csnk2a1

Friendship, Redefined: Two Teens, One Rare Genetic Condition

Wed, 15 Apr 2026 04:15:03 GMT

Both teens are on the autism spectrum and use communication devices, which can make traditional friendship building more complex. But as they sat side by side in a hotel room, baking together, something powerful became clear: connection does not require spoken language.

There is no single way to build a friendship.

When shared interests are present, and when there is a sense of safety and support, connection naturally follows. The room filled with smiles, giggles, and the computerized voice of an iPad repeating one word: “friend.”

There are no perfect words to capture the significance of being in the presence of someone who truly reflects your experience—of knowing you can show up exactly as you are, without judgment, and be fully accepted.

And maybe that’s what friendship is at its core.

A Rare Disease Story from Colorado

Wed, 25 Feb 2026 15:30:01 GMT

By Amber Reynolds

A diagnosis doesn’t change a child, but it changes a family’s ability to hope, to plan, and to move forward. Families deserve that chance.

My name is Amber Reynolds . I am a Colorado mom, educator, and rare disease advocate. My daughter Harper has Okur-Chung Neurodevelopmental Syndrome , an ultra-rare genetic condition caused by a mutation in the CSNK2A1 gene .

Before we had genetic testing, we had no answers.

I knew something was different about Harper from an early age, but no one could tell me why. As a mother, that uncertainty was devastating. I blamed myself. I questioned every decision I had ever made. I spent years wondering what I did wrong, why my child was struggling, and what her future would look like without a diagnosis to guide us.

Our diagnosis came late, not because we were not seeking help, but because genetic testing was not easily accessible and was not covered the way it should have been. That delay cost us time, time for early intervention, time for the right supports, and time to participate in research that could help Harper and others like her.

When we finally received Harper’s diagnosis, everything changed.

I found answers to the “why.” I found language for what our family was experiencing. I found a community of families walking the same road. And where there had once been fear and isolation, there was finally understanding and hope.

Today, 30 million Americans live with a rare disease. Yet families continue to face barriers to basic genetic testing and specialty care. For ultra-rare conditions like Okur-Chung Neurodevelopmental Syndrome, fewer diagnoses mean fewer research opportunities, and without research, there is no path toward treatments or cures.

That is why I am here.

I am asking for increased access to genetic testing and expanded telehealth across state lines so Colorado families can reach rare disease experts wherever they are. Geography should not determine whether a child receives answers. Insurance coverage should not determine whether a family gets hope.

These changes would shorten diagnostic journeys, reduce suffering, and improve lives, not just for Harper, but for thousands of Colorado families still searching for answers.

Thank you for your time, your leadership, and your support.

Research Explained: Identification and functional analysis of a novel CSNK2A1 frameshift variant in stillbirth

Wed, 25 Feb 2026 14:37:04 GMT

Zhang, N. et al.

2025

Research Explained by: Lindsay Bass, CSNK2A1 Foundation Intern

Edited by: Gabrielle Rushing, PhD, CSNK2A1 Foundation Chief Scientific Officer

Reviewed by Parent Advisory Board members

Link to Publication

Content warning: stillbirth

Protein kinase CK2 is expressed in all cell types. As a kinase, it adds a small chemical tag called a phosphate to a protein to impact the protein’s function. CK2 is composed of two activating (CK2α, CK2α’) and two regulatory subunits (CK2β). CK2α is encoded by the gene CSNK2A1, which is highly expressed in the brain. Mutations in CSNK2A1 are associated with Okur-Chung neurodevelopmental syndrome (OCNDS), and mutations/variants can be found along the various functional regions of CSNK2A1.

In this study, a novel mutation in CSNK2A1 was identified in a stillbirth case. A 33-year-old pregnant woman with unremarkable pregnancy history and a non-related partner showed abnormal results on a fetal ultrasound, including abnormalities of the brain and heart. Stillbirth occurred at 35 weeks. Whole genome sequencing was performed on the fetus, and a new frameshift mutation on exon 13 of CSNK2A1 was identified, c.1020_1021delAG (p.Gly342Glnfs*57) . In this case, a deletion of two nucleotides from the DNA sequence (at positions 1020 and 1021) shifts the pattern by which the DNA sequence instructs the subsequent amino acid sequence. This changes the remaining protein sequence following the deletions. This frameshift mutation is distinct from most mutations in CSNK2A1, which are missense mutations that alter a single amino acid. No variants in other genes involved in fetal development were identified. The variant was heterozygous in the fetus but absent in both parents. The variant was located outside functional regions of the protein and was classified as a variant of uncertain significance (VUS), meaning that current evidence is insufficient to determine whether the variant is disease-causing or harmless. Alignment of the variant and wildtype (usual) structures showed that the frameshift mutation replaced the original end of the protein with a novel protein sequence that was six amino acids longer and had a distinct coiled structure.

To assess the functional consequences of this mutation, wildtype and variant CK2α protein were expressed in a human neuroblastoma cell line . Kinase activity of the cells expressing the variant CK2α protein (variant cells) did not differ from the cells expressing wildtype CK2α protein (wildtype cells). Since the kinase function of the protein did not differ between wildtype and variant CK2α, the researchers asked whether the amount of protein differed. The variant cells expressed significantly more mRNA , but significantly less protein than the wildtype cells. Normally, the amount of mRNA correlates with the amount of protein produced. The disconnect between levels of mRNA and protein could be explained by an impairment in the ability to make the protein or increased breakdown of the protein. Cells can add a molecule called ubiquitin to proteins to tag them for breakdown (or degradation). This process is called ubiquitination. Here, the variant cells express higher levels of ubiquitinated CK2α protein, suggesting increased CK2α protein degradation. These findings suggest increased degradation of the mutant CK2α, rather than impaired kinase activity, may lead to the potentially pathogenic impact of this frameshift mutation.

Glossary

Amino acid : the building block of a protein.

c.1020_1021delAG (p.Gly342Glnfs*57): A genetic mutation where the nucleotides adenine (A) and guanine (G) are deleted from positions 1020 and 1021 of the DNA sequence. This frameshift mutation (fs, see definition) changes amino acid (see definition) glycine (Gly) to glutamine (Gln) at position 342 and impacts the remaining protein sequence, which ends 57 amino acids after the frameshift mutation.

Exon : region of DNA that instructs protein production.

Frameshift mutation: an addition or deletion of nucleotide(s) that can change the pattern in which the remaining DNA instructions are read and lead to production of a completely different region of protein.

Heterozygous: expressed in only one copy of the gene. Humans typically have two copies of each gene, one from each parent.

mRNA : a nucleotide sequence that carries genetic instructions from DNA and serves as a template to create proteins.

Neuroblastoma cell line: human cells used for research that were developed from neuron cancer cells. Cell lines are ideal for research because they can be grown continually. CSNK2A1 is expressed in neurons, making this a good model to study the functional consequences of this new mutation.

Pathogenic : describes a gene change that is known to cause disease. It means the variant disrupts normal biological function and leads to health problems.

Stillbirth : A stillbirth is the loss of a baby before birth, usually after 20 weeks of pregnancy. The baby shows no signs of life at delivery, such as breathing, movement, or a heartbeat.

Whole genome sequencing : a research technique that reads a person’s complete DNA sequence (genetic instructions). It can determine if there are any changes from normal which may explain a given medical condition.

Wildtype: the normal version of a gene, protein or organism (often compared to a mutated or modified version).

KK's Story

Sat, 31 Jan 2026 07:42:35 GMT

By Ashley Brown

KK (her real name is Jenesis) is a joyful, determined little girl who teaches us every day what courage and perseverance look like. At just 3 years old, her journey has been filled with hard work, patience, and so many victories worth celebrating.

She’s learned to walk, run, and now proudly ride her tricycle. She sings her ABCs, counts to five (sometimes in her own order), and is learning her letters, numbers, shapes, and colors one step at a time. Each milestone she reaches is the result of effort, support, and her never-give-up spirit.

We’re working toward confidence, communication, independence, and continued growth—celebrating progress over perfection. KK’s story isn’t about being “behind” or “ahead,” but about showing up, trying again, and shining in her own beautiful way.

And we are so proud of her. ��

Sibling Panel Summary: Connect + Collaborate Scientific & Family Conference

Fri, 16 Jan 2026 11:47:09 GMT

Sibling Panel Summary | Saturday, July 19 | Connect + Collaborate Scientific & Family Conference

Summary by Molly Osborne, CSNK2A1 Foundation Intern

On Saturday, July 19, at the 2025 CSNK2A1 Foundation Connect + Collaborate Scientific & Family Conference, young adult and adult siblings came together for a facilitated discussion led by Education Specialist and certified Sibshop facilitator Jessica Ruth. The session focused on the lived experiences of siblings of individuals with Okur-Chung Neurodevelopmental Syndrome, creating space for honest, real-world conversation.

To encourage the greatest possible candor and psychological safety, we made the intentional decision not to record this session. Siblings were invited to speak freely without concern that their words would live on beyond the room, be replayed, or be shared out of context. This allowed participants to be open about deeply personal experiences and emotions that are often difficult to name or share. Instead, we are sharing a thoughtfully prepared summary that reflects the core themes and insights raised, while honoring the privacy and trust of those who participated.

The panel included five siblings ranging in age from the late teens to mid-twenties. Each grew up with one or more siblings, with at least one sibling diagnosed with OCNDS. Family structures varied, and several panelists shared that they had lived with their sibling with OCNDS for most or all of their lives. Many described being deeply involved in their sibling’s daily life and routines.

The session was exceptionally well attended, with participants filling the room and sitting on the floor to take part. From the outset, the conversation was raw, honest, vulnerable, and emotional. We are deeply grateful to the siblings who shared their experiences and to Jessica Ruth for guiding this first-of-its-kind panel, which opened the door to an important and long-overdue dialogue within the OCNDS community.

Summary of Topics and Themes Discussed

What a typical day looked like growing up

Panelists described daily life as highly structured yet unpredictable, with routines shaped around the needs of their sibling with OCNDS. Mornings and transitions were often the most challenging.

Helping siblings wake up, get dressed, eat, and prepare for school
Managing anxiety related to school, sometimes with physical symptoms
Navigating sleep challenges that made mornings and evenings difficult
Long mealtimes due to feeding difficulties, sometimes lasting hours
Gaps in school support requiring tutors, advocacy, or supplemental services
Afternoons and evenings focused on supervision, shared downtime, and ongoing needs

Growing up with many helpers in the home

Many panelists reflected on households with a constant presence of caregivers and helpers, which shaped both family dynamics and their own adaptability.

Families prioritized caregivers who were passionate and caring
Helpers rotated frequently, creating constant change
Poor fits were addressed quickly
Over time, many helpers became like extended family
A strong sense of community formed around caregiving
Siblings learned patience early due to slower pacing and support needs

How their sibling’s needs impacted daily life

Daily life often revolved around the sibling with OCNDS, influencing family relationships, independence, and opportunities.

Plans and activities were frequently adjusted or done independently
Parents’ attention was often focused on caregiving needs
Feelings of loneliness were common
Some opportunities were limited due to supervision needs
Understanding and acceptance grew with age and maturity

How having a sibling with OCNDS shaped who they are

Panelists consistently shared that these experiences deeply influenced their character and worldview.

Increased empathy, patience, and open mindedness
Early caregiving responsibilities that built life skills
Strong adaptability and flexibility
Heightened awareness of others’ emotions and struggles
Deep respect and compassion for individuals with disabilities

Friends, classmates, and inclusion

Panelists discussed navigating friendships and social inclusion, often becoming intentional about who they invited into their homes.

Siblings were often introduced naturally to friends
Friends generally responded with affection and adaptability
Panelists became selective about who entered their home environment
Some friends bonded deeply with their sibling with OCNDS
Inclusion became easier when it was modeled
Bringing people home could feel stressful due to unpredictability

Feeling different from peers

While panelists recognized their family life was different, most described it as simply their normal.

Differences were acknowledged but not seen as wrong
Many viewed their experience as positive
Some limitations were felt when comparing experiences with peers
Challenges were accepted as part of life

Values, personality, and life lessons

Growing up alongside OCNDS shaped panelists’ values and long-term outlook.

Strong emphasis on kindness, respect, and patience
Valuing how people treat others over competence or skill
Career aspirations influenced by helping professions
Habitual advocacy for siblings and others
Learning boundaries, forgiveness, and recognizing triggers

Advice for parents supporting siblings

Panelists offered thoughtful guidance rooted in lived experience.

Communication with siblings should be age-appropriate and honest
Older siblings benefit from more information and involvement
Small amounts of one-on-one attention matter
Ask siblings how involved they want to be
Avoid over-shielding; exclusion can lead to sadness
Create space to talk openly about emotions and challenges
Siblings want to help but also need independence and alone time

Looking Ahead

This discussion underscored the depth, complexity, and importance of the sibling experience within the OCNDS community. The honesty and vulnerability shared by the panelists made clear that siblings carry their own stories, responsibilities, and needs, many of which have historically gone unspoken.

We hope this conversation is just the beginning of many more opportunities to center sibling voices, create space for shared understanding, and build meaningful support for siblings across all stages of life. As our community continues to grow, these perspectives will be essential in shaping more inclusive family support, research priorities, and community programming.

We are deeply grateful to the siblings who bravely shared their experiences and to Jessica Ruth for guiding this conversation with care, intention, and insight. Their willingness to speak openly not only validated the experiences of others in the room but also helped lay the foundation for a more connected and compassionate OCNDS community.

A Year in Review: Highlights of 2025

Tue, 13 Jan 2026 17:29:37 GMT

FOUNDATION OVERVIEW

Fueling Discovery, Built for Impact

OCNDS Discovered : 2016 | Foundation Established : 2018
Mission : Focused on finding a cure for Okur-Chung Neurodevelopmental Syndrome and ensuring affected individuals have the opportunities and supports necessary for happy and full lives.
Vision : A world where OCNDS is recognized, understood & treatable.
Hallmark Symptoms : Speech delay or inability to speak, global developmental delay, intellectual disability, autism spectrum disorder traits, postnatal short stature, brain MRI abnormalities, hypotonia, seizures, and sleep issues.
OCNDS affected every patient differently. The symptoms range from mild to severe.
Global Reach : 377 (+86) individuals from 48 (+6) countries speaking 30 (+5) languages.
All (+) are increases since January 2024
Our team is guided by Governance + Science + Lived Experience: Board of Directors, Parent Advisory Board, Scientific Advisory Board, Regional Ambassadors + Key personnel
6 Key Focus Areas : Research, Advocacy, Awareness, Fundraising, Family Support, and Capacity Building.
How it all connects : OCNDS is complex, and so is the path to answers. That is why our work is intentionally connected across six focus areas. We start by listening to families and collecting real-world data. We translate those insights into research projects and collaborations. We raise awareness so OCNDS is recognized, and we advocate so families have access to care and research stays funded. Fundraising fuels every step. Capacity building ensures we can keep showing up with consistency and strength. Each area reinforces the others, and together they move us closer to treatments while improving quality of life right now.

RESEARCH.

Research, led by our Chief Scientific Officer, Dr. Gabrielle Rushing , is the cornerstone of advancing understanding, treatment, and, ultimately, a cure for OCNDS. Through strategic support of scientific studies, robust data collection, and deep investigator collaboration, the CSNK2A1 Foundation works to uncover disease mechanisms, refine the clinical picture of OCNDS, and identify therapeutic opportunities across multiple time horizons.

Our research strategy intentionally integrates natural history, translational models, and community-informed priorities to ensure progress today while building toward disease-modifying treatments tomorrow. This work is strengthened by our conference convenings, family engagement, and partnerships that expand both participation and scientific readiness.

GRANTS
Applied for 9 highly competitive grants ; received 5 grants totaling $290,194 (some of these grants are in-kind support, including Citizen Health-CZI natural history development grant worth $150,000)
2 ^nd year of Chan Zuckerberg Initiative Rare as One Cycle 3: $800,000 over 5 years
Patient-Centered Outcomes Research Institute (PCORI) CSNK2A1/CSNK2B stakeholder convening grant to build capacity for patient-centered clinical comparative effectiveness research
2 grant applications are pending for in-kind consulting support

RESEARCH PROJECTS & TRANSLATION MODELS
6 New Research Grants Awarded

1) OCNDS Disease Concept Model Study

Primary Researcher: Grace Branger (Vanderbilt University)
Aim: A disease concept model is a tool that helps researchers, doctors, and regulators understand what it’s really like to live with a specific condition. It’s built by gathering information directly from patients, families, and caregivers about the symptoms they experience, how those symptoms affect daily life, and what truly matters most to them.
Significance: This directly help researchers and clinicians determine which outcomes should be prioritized in future clinical trials and healthcare strategies for OCNDS.
Status: 20 interviews have been completed. Dr. Rushing and Grace are working on data analysis. Publication expected in 2026.

2) Investigating CK2-Mediated Phosphorylation of SYNGAP1 and Its Role in Neurodevelopmental Disorders – jointly funded grant with CURE SYNGAP

Principal Investigator: Dr. Heike Rebholz (INSERM, Paris, France)
Aim: Define how CK2 kinase (encoded by CSNK2A1) phosphorylates the synaptic protein SYNGAP1, identify direct CK2 phosphorylation sites, and test how those modifications influence neuronal signaling and behavior in vivo.
Significance and Status: SYNGAP1 plays a key role in synaptic function and plasticity. Mutations in SYNGAP1 cause a neurodevelopmental disorder with overlapping clinical features to OCNDS. Understanding CK2’s regulation of SYNGAP1 may reveal shared biology between these conditions and point toward therapeutic pathways relevant across multiple genetic NDDs.
Status: Initial experiments began in late 2025.

3) Leveraging a Knowledgebase to Enhance Diagnosis, Treatment, and Global Collaboration for OCNDS

Principal Investigator: Dr. Dennis Lal (UT Southwestern)
Aim: Build a centralized, integrated knowledgebase of genetic and clinical data for OCNDS that supports precision diagnosis, genotype–phenotype analysis, personalized treatment insights, and global research collaboration.
Significance: A shared resource of curated variants, clinical profiles, and analytic tools improves diagnostic accuracy and enhances data access for researchers and clinicians. This platform is intended to accelerate discovery and guide care decisions while fostering international collaboration on treatments and outcomes.
Status: Portal build is still under development. We expect the analysis tools to be available to OCNDS researchers mid-2026.

4) Investigating Sleep and Circadian Dysregulation in Okur-Chung Neurodevelopmental Syndrome (OCNDS)

Principal Investigator: Dr. Vishnu Cuddapah (Texas Children's / Baylor)
Aim: Characterize sleep and circadian rhythm disturbances in individuals with OCNDS using clinical questionnaires, develop variant-specific Drosophila models to assess sleep phenotypes, and screen curated compounds that may reverse these disturbances.
Significance: Sleep disruption is a common and medically impactful feature of OCNDS. Better characterization of sleep and circadian dysregulation will deepen understanding of CSNK2A1’s role in neural regulation and may identify candidate therapeutics that improve quality of life and inform preclinical development.
Status: 7 new fly lines representing different CSNK2A1 variants have been generated. Preliminary phenotyping suggests differences which will help us better understand the mechanisms driving OCNDS symptoms. For the clinical questionnaires, some were collected at our July 2025 conference with future questionnaires to be collected via the foundation’s upcoming research portal. Stay tuned for more information about this!

5) Speech and Language Phenotyping in Okur-Chung Neurodevelopmental Syndrome

Principal Investigator: Dr. Miya St. John
Aim: Systematically characterize speech and language abilities in individuals with CSNK2A1 variants using standardized assessments to distinguish between motor-based speech disorders and cognitive-linguistic impairments and to define genotype–phenotype correlations.
Significance: Speech and communication challenges are frequent in OCNDS but poorly delineated. Precise phenotyping will guide accurate diagnoses, inform tailored therapy planning, and establish outcome measures essential for future clinical trials. Data may also clarify how specific variants influence communication development.
Status: this project is still actively recruiting. ~10 families have participated to date. Our recruitment goal is 50 families! Learn more here

6) Non-seizure Phenotypes in OCNDS

Principal Investigator: Dr. Sunanjay Bajaj
The Foundation continued its commitment to building a durable research pipeline by supporting early-career investigators advancing OCNDS-focused science. As part of this effort, we partnered with Uplifting Athletes to co-fund a competitive $20,000 Young Investigator Award to support research led by Sunanjay Bajaj, MD.
Dr. Bajaj is a Resident Physician at UTHealth Houston and a member of the Dennis Lal Lab, where his work focuses on neurodevelopmental disorders.
Aim: The awarded project advances investigation into non-seizure symptoms, an area of growing importance for understanding the full clinical spectrum of OCNDS and improving outcome measures.
Status: Dr. Bajaj has initiated preliminary data analysis using data collected at the 2025 conference will begin the project in January 2026.

Ongoing Investigator-Led Projects Advancing in 2025
Unravel Biosciences – Nasal Swabs from individuals with CSNK2A1 K198R variant
Aim: This project focused on generating primary clinical molecular data from individuals with the CSNK2A1 K198R variant using minimally invasive nasal swabs. RNA sequencing data were generated and analyzed using the BioNAV™ platform to model disease biology and predict potential therapeutic mechanisms, resulting in the first patient-derived transcriptomic dataset for CSNK2A1.
Significance and Status: RNA sequencing datasets were successfully generated from individuals with CSNK2A1 K198R and healthy family controls. Computational analyses identified multiple candidate drug classes and revealed stratified molecular response profiles within the K198R subgroup. Seven predicted drug candidates were advanced into early in vivo screening in tadpole models to inform future translational and clinical planning. This work is ongoing.

Dr. Halim Loukil - Deciphering perturbations of primary cilia in Okur-Chung neurodevelopmental disorder
Aim: This project investigated how pathogenic variants in CSNK2A1 disrupt primary cilia biology. The work was supported through community fundraising via the Million Dollar Bike Ride . Primary cilia are fine, hairlike projections on certain cells that play critical roles in cellular signaling and development, particularly in the nervous system.
Status: The project is advancing mechanistic studies examining how CSNK2A1 variants alter cilia structure and function, with a focus on downstream signaling pathways relevant to neurodevelopment.
Significance and next steps: Insights from this project will inform the Foundation’s broader strategy for prioritizing translational approaches and pathway-focused interventions.

Dr. Clement Chow – Drug Repurposing Using an OCNDS Fly Model
Aim: This project used a Drosophila melanogaster model of OCNDS to identify FDA-approved drugs with potential therapeutic relevance. Using an eye-based CSNK2A1 loss-of-function model and a 1,520-compound drug repurposing library, the team completed a large-scale screen and advanced top candidates into validation studies.
Significance: Multiple candidate drugs demonstrated consistent rescue of the eye phenotype across doses, and several also showed benefit in an independent muscle-specific lethality model, increasing confidence in biological relevance.
Status: Validated hits spanned diverse mechanisms, including anti-inflammatory, antihistamine, and leukotriene-related pathways, with convergence across other rare-disease discovery efforts. These findings informed prioritization of top candidates for further testing across additional fly phenotypes, including behavior, sleep, and survival, to support future translational planning.

Dr. Matt Huentelman – Characterization of CSNK2A1 Variants in Patient-Derived Neurons
Aim: define genotype–phenotype relationships using two-dimensional neuronal cultures derived from patient iPSCs. By working across multiple CSNK2A1 variants, the study focuses on building a rigorous, disease-relevant cellular platform rather than a single-line proof of concept.
Importance: this work is establishing a scalable, patient-relevant neuronal system to support phenotyping, drug repurposing, and future gene-modifying strategies. Ongoing differentiation, maturation, and phenotypic characterization will enable meaningful cross-variant comparisons and guide prioritization of therapeutic approaches as datasets mature.
Status: Patient-derived iPSC lines were received at the Translational Genomics Research Institute and expanded in culture. Several lines are successfully growing and progressing through early differentiation steps.

Dr. Heike Rebholz – Mouse Models of OCNDS
Aim: Characterize four mouse models representing patient-relevant CSNK2A1 variants across behavioral, cellular, and proteomic levels
Status:
K198R model characterized and published
One compound (nutraceutical) is being tested.
Loss-of-function and R47G models under active behavioral and functional analysis. R312W model is being re-made.
Publication comparing phenotypes is expected by the end of 2026.

New Case Report Initiative. In 2025, under Dr. Rushing’s leadership, the Foundation launched a focused case report initiative to address critical gaps in the medical literature and better reflect the lived experiences of individuals with OCNDS.
This effort is currently advancing 5 case reports, with emphasis on :
Genetically complex and ultra-rare presentations, including an in-progress case report on the CSNK2A1 R47G variant , which to date has been observed in only a single individual worldwide.
Therapeutic response in OCNDS, including a case report examining an individual with OCNDS treated with growth hormone who demonstrated positive clinical outcomes , contributing early evidence toward understanding endocrine interventions in OCNDS.
Genetic complexity influencing therapeutic interpretation, including a revised case report involving an individual treated with Epidiolex . The scope of this manuscript was refined following updated genetic testing that identified an additional pathogenic variant in SCN1A, necessitating clarification of genotype–treatment relationships in the context of epilepsy management.
Neuropsychiatric and behavioral features that remain under-recognized in OCNDS, including an in-progress case report focused on catatonia, with submission anticipated in early 2026.
Cross-cutting phenotype characterization efforts, including a planned collaborative case series with UNC clinicians examining immune phenotypes in OCNDS .

Case reports document detailed clinical experiences of individuals with rare conditions and play a critical role in:
Helping clinicians recognize OCNDS
Refining diagnosis and clinical management
Informing future research and clinical trial readiness

Scientific Collaboration & Knowledge Exchange
Scientific Roundtables . Hosted 4 Scientific Roundtables in 2025 to foster cross-disciplinary collaboration and rapid knowledge sharing:
Q1: Dr. Halim Loukil (Sanford Research) — Deciphering Perturbations of Primary Cilia in OCNDS
Q2: Dr. Vishnu Cuddapah, MD, PhD & Angella Zhao (Texas Children’s/Baylor) — Disentangling Sleep and Circadian Dysfunction in OCNDS
Q3: Ashley Anderson, PhD (Zoghbi lab, Baylor) — Convergent Molecular Pathways Linking Rett Syndrome and OCNDS
Q4: Suyeon Kim, PhD (Lal lab, UT Southwestern) - Live demo of OCNDS web tool

Connect + Collaborate conference: Research engagement and alignment were strengthened through the Connect + Collaborate Conference, where 25+ families participated in on-site research activities, helped crowdsource future research priorities, and received direct updates on the OCNDS research roadmap. 60 researchers and clinicians attended the scientific sessions.
We ended 2025 with 122 researchers and clinicians subscribed to the Scientific Roundtable mailing list (+38)
Through our partnership with COMBINEDBrain, we collected 50 different samples from individuals with OCNDS and family controls including blood, stool, urine, and nasal swabs.

Natural History & Longitudinal Data . Simons Searchlight, part of the Simons Foundation Autism Research Initiative , serves as the Foundation’s core natural history study.
The study collects family-reported, medical, developmental, and behavioral information, synthesizes results, and returns findings to participating families.
De-identified data are shared with qualified researchers worldwide.
This study is critical to understanding how OCNDS presents and evolves over time and serves as the primary dataset used by researchers studying the condition.
2025 Participation Snapshot
187 individuals registered ( +40 )
181 individuals fully consented ( +40 )
161 individuals with approved genetic laboratory reports ( +35 )
120 individuals with completed medical history intake surveys ( +28 )
This intake represents the core dataset used by researchers to better understand OCNDS
30 individuals submitted blood samples (+0 )
These samples enable Simons Searchlight to generate induced pluripotent stem cell (iPSC) lines, a critical resource for future cellular and therapeutic research
147 participants completed one or more surveys ( +38 )

Expanded Global Access. Participation is now available in 7 languages - German, Italian, Portuguese, English, Dutch, French, and Spanish - significantly expanding accessibility for international families.

New Data Release. Thanks to 96 participants from the CSNK2A1 community, Simons Searchlight released updated registry data in 2025, offering new insights into the lived experience of OCNDS.
Top reported features included:
96 % language delay
90 % intellectual disability or developmental delay
68 % hypotonia
57 % constipation
27 % autism

Real-World Data & Digital Health . Continued expansion of our partnership with Citizen Health to enable families to securely share real-world health data.
These data help researchers:
Understand lived experience beyond clinic visits
Identify patterns over time
Inform future study design and therapeutic development
Citizen Health is currently available to U.S. residents, with English-speaking international families able to participate by uploading their own records.
2025 Enrollment Status
71 families fully enrolled ( +9 )
5 enrollments in progress, pending completion of consent, provider information, or signatures
4 families opted out

New initiatives within Citizen Health
Participation in AI Working Group: In 2025, Citizen Health launched an initiative to co-design community-specific AI-enabled tools for patient advocacy organizations, and we were selected as one of five Patient Advocacy Groups to partner in this work. As a co-design partner, we are helping shape innovative, ethical AI-enabled solutions such as dynamic knowledge bases and engagement tools grounded in lived experience and built to better support rare disease communities.
Selection for NHS dataset collaboration: In 2025, the Foundation was selected to receive a joint grant from the Chan Zuckerberg Initiative and Citizen Health to support natural history research in OCNDS. The proposal was recognized for its clear research vision, demonstrated track record, and readiness to execute patient-centered data collection.
Through this award, the Foundation is expanding its Citizen Health cohort, building toward a robust natural history dataset, and engaging directly with participating families to ensure high-quality, complete medical records. The grant also provides structured support for data exports and integration into broader research networks, strengthening the Foundation’s long-term clinical and research infrastructure.

OCNDS PUBLICATIONS
2025 ended with 48 (+10) total publications about OCNDS/related to OCNDS.
Publications (linked to the corresponding Research Explained):
OCNDS-Focused Clinical Phenotyping and Case Reports - These papers directly center Okur-Chung syndrome or CSNK2A1 as the primary condition under study.
OCNDS Core Features Are Conserved Across Variants, with Loop-Region Mutations Driving Greater Symptom Burden
This paper was led by Dr. Rushing and interns Elena Bagatelas and Maahin Manzoor Khan and has received over 3,000 views and 350 downloads to date.
A Dual Diagnosis of Okur–Chung Neurodevelopmental Syndrome and Becker Muscular Dystrophy: Inquiry Into the Lower Limits of Neurodevelopmental Functioning Attributable to Muscular Dystrophy
Prenatal Diagnosis of Okur-Chung Syndrome: Ultrasound Findings and Implications of CSNK2A1 and KCNQ5 Variants
Research Explained coming soon!
A Case of CSNK2A1 Gene Variant Causing Okur-Chung Syndrome and Analysis of the Clinical Phenotypic Spectrum

OCNDS-Adjacent Clinical Phenotyping and Case Reports - These are clinically relevant, but OCNDS is secondary, comparative, or incidental rather than the core focus.
Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1
Genetic aetiologies in relation to response to the ketogenic diet in 226 children with epilepsy
Adrenal Hypoplasia: A Diagnostic and Clinical Challenge

Cross-Syndrome Neurodevelopmental Analyses (Including OCNDS) - These analyze shared features across many rare NDDs, with OCNDS as part of a broader landscape.
Motor phenotypes associated with genetic neurodevelopmental disorders
Characterizing Key Correlates of Sleep Problems Across Rare Neurodevelopmental Genetic Disorders
Research Explained coming soon!

Variant Characterization and Methods
Rapid method for evaluation of CK2 enzymatic activity and CK2α/CK2β-interaction in Escherichia coli cell lysates
Research Explained coming soon!

Looking Ahead: Gene Therapy Research. In 2025, the Foundation began investing in gene therapy research as a critical step toward targeted, potentially disease-modifying treatments for OCNDS.
To guide these investments responsibly, we launched our first Gene Therapy Community Poll to understand how families feel about gene-based approaches.
Family input is essential, as different gene therapy strategies involve varying benefits, risks, and timelines.
Insights from this poll help ensure our research strategy reflects both scientific promise and the priorities of the OCNDS community.

Advocacy & Policy Impact.

Advocacy plays a pivotal role in championing the rights and needs of individuals with OCNDS. By engaging with policymakers, healthcare professionals, and the broader rare disease community, we help shape policy, raise awareness, and secure critical resources that improve care, accelerate research, and protect access for families. Advocacy protects the conditions that make progress possible, including research funding, innovation, and access to care for families.

We signed on to 27 federal and state advocacy efforts , ensuring the voices of the OCNDS community were represented in key policy discussions, including:
Federal research and innovation funding , including strong support for NIH, ARPA-H, FDA programs, and rare disease research investment
Epilepsy and seizure safety , advancing seizure awareness, preparedness, and national epilepsy planning
Access to care , including long-term telehealth access and expanded genetic counseling services
Rare pediatric drug development , supporting accelerated approval pathways and the Rare Pediatric Disease Priority Review Voucher Program
Patient protection and affordability , opposing policies that threaten innovation, access to care, or nonprofit sustainability

Elevated OCNDS in the Irish Dáil (main legislative body in Ireland) for the 1 ^st time through parent advocacy
Supported parent testimony in Massachusetts to advance official recognition of OCNDS Awareness Day

AWARENESS.

Awareness is crucial to our mission. Never underestimate the power of knowledge and awareness. With awareness comes social acceptance and kindness, which can mean all the difference to a family struggling with basic daily activities. With awareness comes more funding for research and advocacy. With awareness comes interest from researchers, biotech, and pharma which can lead to a treatment or a cure. And with awareness coupled with action, we are one step closer to understanding and treating OCNDS. When OCNDS is visible and understood, families find community faster, clinicians recognize the condition sooner, and researchers are more likely to engage.

OCNDS Wikipedia Page Launched . Under the leadership of our Chief Scientific Officer, Dr. Gabrielle Rushing, OCNDS now has a dedicated Wikipedia page. Establishing a presence on Wikipedia increases global visibility, improves access to reliable and centralized information, and helps families, clinicians, researchers, and the public more easily find accurate information about OCNDS. This milestone strengthens awareness and reinforces the legitimacy of OCNDS within widely used public and professional reference sources. Explore the page here .

OCNDS Awareness Day | April 5. OCNDS Awareness Day mobilized global visibility for OCNDS through coordinated landmarks and public recognition.
15+ bridges, landmarks, and monuments around the world lit up in the Foundation’s green and blue, including Niagara Falls and the High Level Bridge
5 official proclamations declared April 5 as OCNDS Awareness Day, issued by St. Louis County, the State of Missouri, the City and County of Denver, the Province of Nova Scotia in Canada, and the City of St. Louis

Features and Storytelling. In 2025, storytelling was a core awareness strategy, helping elevate lived experience, expand understanding of OCNDS, and reach new audiences across multiple platforms.
2025 Storytelling and Media Impact
13+ blog posts featuring OCNDS families, advocates, and community voices
5+ intern-authored family stories, each paired with a companion reel to extend reach
8+ short form reels amplifying written stories through visual storytelling, with our Instagram and Facebook accounts averaging 13,500+ views a month .
9+ podcasts, videos, and media features expanding awareness beyond the OCNDS community
3+ national and international awareness campaigns featuring OCNDS families and advocates.
Why This Matters. By pairing authentic family stories with strategic distribution across blogs, video, podcasts, and public campaigns, we increase visibility for OCNDS, help families feel seen and connected, and strengthen support for research and advocacy.

FUNDRAISING.

At the heart of our work is a simple truth: progress requires resources. Every dollar raised fuels research, strengthens family support, and moves us closer to answers for individuals living with OCNDS. From major gifts to grassroots efforts, every contribution matters, and we are deeply grateful to everyone who gave, fundraised, and rallied their communities in support of our mission in 2025. Every event and campaign funds the research, resources, and convenings that move our mission forward.

2025 Fundraising Impact: Over $690,000 raised across events, campaigns, and community-led fundraisers
Signature and Community Fundraisers
Annual Golf Tournament. Our annual golf tournament at El Caballero Country Club in Tarzana, California, remained our largest fundraiser of the year and shattered Foundation records, raising over $530,000 .
This extraordinary success was made possible by 41 volunteers , 123 golfers and sponsors , and the leadership of our dedicated Golf Committee: Jennifer Sills, Michael Kaplan Jr., Joey Behrstock, Mike Greenfeld, J. Michael Grossman, Mike Grossman, Connor Hooper, Mariana Veyna, Avisha Patel, and Tracy Phelps.
Special thanks to our Title Sponsor Pinnacle Contracting Corporation for leading by example.

Run, Walk and Roll. We hosted our 5th annual virtual Run, Walk and Roll, raising over $36,000 with 230 participants across 14 countries, bringing families and supporters together around the world.

Giving Tuesday. Giving Tuesday is our largest online fundraising campaign. In 2025, we released a powerful video featuring OCNDS families and researchers, raising over $130,000 for research. The campaign included a $50,000 matching gift from loyal donors Joan and Charlie Davis , doubling the impact of community generosity.
Community and Facebook Fundraisers. Our community created 32 Facebook fundraisers,
Other Grassroots Fundraisers. Additional community led events raised over $2500, including Courtney Rocha’s Zumba event ($1,902) and Charity Day at BTIG.
Minted Partnership. Our year-round partnership with Minted offers an easy way to give back. Supporters can use the code FUNDRAISECSNK2A1 to save 20 percent at Minted.com, while Minted donates 10 percent back to the Foundation.
In 2025, this partnership raised $58.92 through 3 orders , with continued growth expected.

Get Involved. If you are interested in hosting a fundraising event such as bake sales, garage sales, dine out nights, fitness challenges, or car washes, please contact jennifer@csnk2a1foundation.org . Grassroots fundraisers engage communities, raise awareness, and create meaningful impact one step at a time.

FAMILY SUPPORT.

Supporting individuals and families living with OCNDS is foundational to our mission. We focus on meeting families where they are by building community, sharing trusted resources, and creating pathways for connection, learning, and participation in research. Family support is not separate from research. When families are informed, connected, and empowered, participation grows and progress accelerates.

Global Family Registry. The CSNK2A1 Foundation Contact Registry now includes 377 individuals (+86 this year) across 48 countries (+6) and 30 languages (+5) , reflecting the truly global nature of the OCNDS community.
Our registry is unique in the rare disease landscape, capturing families regardless of geography or language to better understand how OCNDS is diagnosed and experienced worldwide.
Because published literature does not reflect the full diversity of families living with OCNDS, the registry helps create a more accurate picture of the global community, while acknowledging that many families remain unregistered.
Collecting information on the diversity of CSNK2A1 variants is critical, as different mutations may drive different symptoms or severity. This insight informs research priorities and helps guide future studies.
The registry also enables timely, direct communication with families, ensuring they receive relevant updates about research opportunities, educational resources, and community initiatives.

FAMILY MEETINGS
Hosted 3 regional ambassador meetups (Netherlands, England, France)
Our Parent Advisory Board hosted 5 Family Zoom calls powered by Wordly AI to ensure families, regardless of their native language, could participate.
In coordination with Dr. Okur, we hosted 1 Family Zoom call with 16 families from China
At our largest conference to date, families and siblings were supported through dedicated programming, the Connect + Collaborate Conference, including sibling spaces, expert consultations, advocacy training, and storytelling workshops that empowered families to navigate life with OCNDS.

Language Access and Global Education. Access to information should never depend on geography or language. As our global OCNDS community grows, we remain committed to ensuring families can understand and engage with trusted medical information in their native language.
In 2025, we translated our family-friendly, simplified version of the OCNDS GeneReview into 30 languages , up from 22 languages the prior year, reflecting the expanding linguistic diversity of our community.
The original GeneReview chapter on OCNDS was authored by Dr. Okur in June 2022 and is widely regarded as a reference resource for geneticists, outlining the condition’s scope, molecular genetic causes, and surveillance and management guidance.
Recognizing that GeneReviews are written for clinicians, we created a family friendly, simplified version to make this critical information accessible and usable for caregivers.

Dr. Okur’s clinical one-pager is now available in 30 languages, up from 22 languages last year, expanding access to clear, trusted information about OCNDS for families and clinicians worldwide. Visit our website to explore these translations and more.

Hosted an in-person scientific & family meeting July 17-20; YouTube recordings can be found here and are translatable into all languages.

Understanding the Significance of Your Genetic Variant . This guide is now available in all 30 languages spoken by OCNDS families worldwide. It helps families read and understand their genetic test reports and explains why individual OCNDS variants matter. Designed for both newly diagnosed families and those navigating ongoing care. Access the resource here.

Family Planning Resource . Authored by intern Anna Madden from the University of Pennsylvania Genetic Counseling Master’s Program through the Orphan Disease Center’s JumpStart and GCSX Program, this guide helps families better understand family planning considerations related to OCNDS.
The resource explains OCNDS inheritance using clear visuals and examples from genetic test reports, outlines recurrence risks in straightforward terms, and reviews reproductive planning options and what they may mean for families.
Learn more here.

Education Advocacy Tools for Families . Communicating about OCNDS in school settings can be challenging. Connie Johnson, our Parent Advisory Board, and Deanna Heuring, Ed.S., created an informational slide deck, companion script, and hosted a webinar to empower families to confidently communicate their child’s needs and advocate for appropriate services and supports in educational settings. Download the slides, script, and watch the webinar here.

Our “ Science Snapshots ” blog is aimed at simplifying the complex science and healthcare topics surrounding OCNDS and the rare disease community.
12 science snapshot blogs were published on Gene therapy, DNA, Clinical Trials, Pharmacogenomics, Drug Repurposing, CBD & Seizures, growth hormone treatment, biomarkers, Importance of Clinical Research IDs.

We shared 12 webinar opportunities spanning advocacy training, special education law, caregiver mental health and sleep, rare disease policy and newborn screening, epilepsy and seizure detection technology, insurance navigation, catatonia and challenging behaviors, life-stage planning for families, and clinician-focused education on integrating genetic insights into care. webinar opportunities for families.

ICD-10 CODE APPLICATION. An ICD-10 code is crucial for a rare disease because it establishes a standardized method for doctors and hospitals to identify and accurately record the condition. This helps track the disease, improve research, and ensure patients receive the care and insurance coverage they need.
In September 2025, our request was formally reviewed by the ICD-10-CM Coordination and Maintenance Committee, which provided encouraging feedback and raised questions about code placement and labeling. Given the complexity of rare and newly defined conditions, differing perspectives emerged, and the Committee requested a revised response and likely a second presentation to help build consensus. Our legal and clinical advisors are preparing the requested materials, and we will continue to represent the OCNDS community as the process moves forward.

REGIONAL AMBASSADORS. Our Regional Ambassadors help build connection and support within the OCNDS community across different geographic regions. Serving as a bridge between families and the Foundation, they help identify region-specific needs, share resources, and elevate local challenges so families feel supported and heard.
In 2025, we had 12 Regional Ambassadors supporting families worldwide. Learn more about our Regional Ambassadors here .

We featured 12 Milestone Mondays celebrating the achievements and everyday successes of individuals living with OCNDS. Highlighting these moments builds community, honors progress in all its forms, and helps families feel seen, encouraged, and connected .

Global Volunteer Community. More than 70 dedicated volunteers generously contributed their time and expertise to support families living with OCNDS. Our volunteers span the globe, representing communities such as Italy, Brazil, Canada, the United States, the United Arab Emirates, the United Kingdom, Spain, the Netherlands, and Norway, strengthening connection and support for families worldwide.

In the Loop: Kept families informed and connected through 7 issues of our In the Loop community newsletter, reaching families registered with the Foundation with timely updates, resources, and meaningful touchpoints throughout the year.

CAPACITY BUILDING & PARTNERSHIPS.

Capacity building strengthens the internal systems, expertise, and resources needed to grow responsibly and deliver on our mission with impact and sustainability. Strategic partnerships extend our reach, allowing us to work more efficiently, share expertise, and maximize limited resources. Together, these efforts enable collaboration that drives systemic change, advances research, and accelerates progress toward treatments faster than we could achieve alone. Capacity building is what allows our small organization to have outsized impact by pairing strong infrastructure with strategic partnerships.

Building People and Infrastructure
CSNK2A1 Internship Program. Under the leadership of our Chief Scientific Officer, Dr. Gabrielle Rushing, the Foundation continued to invest in a robust internship program as a core capacity-building strategy.
In 2025, we supported 15 interns spanning countries, disciplines, and career stages, including genetic counseling, neuroscience, medicine, communications, research strategy, and conference planning.
Interns contributed across Foundation priorities, including:
Natural history and registry data analysis
Scientific publications and research support
Disease concept modeling and clinical education resources
Family storytelling, awareness content, and Science Snapshots blogs
Conference planning, execution, and post-conference summaries
Several interns returned for extended engagements, reinforcing continuity, mentorship, and institutional knowledge.
Through our partnership with the Orphan Disease Center’s Genetic Counseling Student Exchange Program , we engaged future genetic counselors in rare disease advocacy and research.

Expanding Leadership and Field Engagement
Leadership roles and ecosystem engagement
Jennifer Sills stepped into a new role as Board Member and Treasurer of the Rare Epilepsy Network , supporting its transition to a 501(c)(3).
Jennifer Sills continued as Co-Chair of the CombinedBrain Board of Directors , a consortium accelerating treatments by pooling data across neurodevelopmental conditions .
Jennifer Sills continued her role as a Founding Advisor to the Buffalo Initiative , focused on building infrastructure for patient-led and nonprofit biotech innovation in ultra-rare drug development.
Dr. Gabrielle Rushing continued her service on the Epilepsy Research Benchmarks Stewards Committee .
Dr. Gabrielle Rushing participated in the Milken Institutes Rare as One mentorship program with Michael Andreini, President and CEO at the Multiple Myeloma Research Foundation.

Conference participation and scientific visibility
Dr. Rushing attended 9 conferences spanning neuroscience, patient advocacy, and drug development and received travel awards for 3 conferences.
Dr. Rushing presented the Foundation’s first poster highlighting Simons Searchlight data at the Gatlinburg Conference on Research and Theory in Intellectual and Developmental Disabilities.
Jennifer Sills joined a panel at NINDS on the power of storytelling to drive research, care, and policy.

Strategic Partnerships and Ecosystem Building
CK2 Butterfly Collective . Launched a formal alliance between the CSNK2A1 Foundation and the CSNK2B Foundation, uniting the OCNDS and POBINDS communities around shared CK2 biology.
This collaboration supports coordinated research, data sharing, awareness, and family support across both ultra-rare conditions.

Strengthened the Foundation’s global research and fundraising footprint.
Ongoing collaborations
Continued 27 active partnerships across research, advocacy, and community engagement.
Added 2 new partnerships in 2025: Fondation Maladies Rares (creating a pathway for French families and supporters to directly fund OCNDS research) and We the Action.

Governance and Lived Experience Leadership
We strengthened our Scientific Advisory Board by welcoming 5 new experts across neuroscience, genetics, and clinical research, expanding the breadth of expertise guiding OCNDS research strategy and translational readiness. We welcomed Dr. Danielle Caefer, Dr. Michael Boland, Vanessa Vogel-Farley, Dr. Hilary Eaton, and Dr. Matt Eaton
We held 7 Parent Advisory Board meetings in which 11 members ensured lived experience informed, research priorities, family support initiatives, advocacy strategy
In Q3 2025, we launched our third Parent Advisory Board cohort for the 2025 to 2027 term, welcoming 14 Parent Advisory Board members and expanding representation across North America, Europe, and the Middle East. This growing group continues to ensure that lived experience remains central to our programs, research priorities, and community engagement.

Organizational Development & Training. Foundation leadership participated in the Chan Zuckerberg Initiative Storyteller Workshop Series and the NPL Major Donor Workshop Series, strengthening our capacity for authentic storytelling, strategic donor engagement, and long-term sustainability .

Community Leadership Recognized Beyond the Foundation . In 2025, Claire Whitehill was selected to join the Simons Searchlight Community Advisory Committee (CAC) , a multidisciplinary group of participants, parents, advocates, and researchers helping guide the future of rare disease research. Claire serves as both a CSNK2A1 Foundation Parent Advisory Board member and Regional Ambassador for the United Kingdom , and her selection reflects the growing leadership, expertise, and credibility of OCNDS advocates within the broader research ecosystem. This appointment strengthens the voice of the OCNDS community in shaping research priorities beyond our Foundation.

Recognizing Impact and Leadership: 4 honorees recognized for advancing research, community leadership, and Foundation capacity. In 2025, we launched the CSNK2A1 Foundation Giving Impact Awards to recognize individuals whose expertise, leadership, and partnership are strengthening our infrastructure and accelerating progress across the OCNDS ecosystem. Learn more here.
2025 Researcher of the Year: Dr. David Litchfield recognized for decades of CK2 research and deep collaboration with the Foundation, translating discovery into meaningful progress for the OCNDS community.
2025 Volunteer of the Year: Claire Whitehill honored for exceptional community leadership across the United Kingdom, including organizing regional efforts and submitting 47 landmark light up applications in one year.
2025 Intern of the Year: Elena Bagatelas r ecognized for co-authoring a publication analyzing Simons Searchlight data to advance genotype-phenotype understanding in OCNDS.
2025 Scientific Advisory Board Member of the Year: Dr. Rachel Bailey honored for extraordinary service, including scientific review, conference engagement, and leading the submission of a complex NIH R13 grant.

Advancing Research Capacity and Field Readiness
Celebrating Emerging Investigators . In 2025, OCNDS researcher Dr. Sunanjay Bajaj was named a Young Investigator awardee by Uplifting Athletes , receiving competitive funding to advance his OCNDS-focused research. The foundation co-funded this award. This recognition not only supports Dr. Bajaj’s work, but also signals growing scientific interest and credibility in the OCNDS field, helping attract and retain the next generation of investigators committed to rare disease discovery.

Securing Transformational Engagement Funding . The Foundation was awarded support through the Patient-Centered Outcomes Research Institute (PCORI) Eugene Washington Engagement Award Program , representing a significant investment in shared research infrastructure and community-driven science.
This award supports a first-of-its-kind effort to bring together patients, caregivers, clinicians, and researchers to co-develop a stakeholder-informed comparative effectiveness research agenda for OCNDS and POBINDS .
The project will result in a joint, open-access research agenda and shared lexicon , strengthening alignment across communities, advancing patient-centered research readiness, and creating a durable resource to guide future studies and funding across the field.

Connect + Collaborate Scientific & Family Conference. This year’s Connect + Collaborate Conference brought the Foundation’s mission to life by convening almost 200 people, including families, researchers, clinicians, and advocates in a shared space designed for collaboration, learning, and progress.
Conference Impact Highlights
Families participated in five on-site research activities , including donating biological samples, completing assessments, and sharing lived experiences to directly advance OCNDS research.
Hosted a groundbreaking research crowdsourcing session , where families and researchers sat side by side to help shape future OCNDS research priorities together.
Our Chief Scientific Officer, Dr. Gabrielle Rushing , shared updates on the OCNDS research roadmap and what’s coming next, followed by presentations from investigators actively enrolling families in studies.
A Storytelling Workshop , led by Effie Parks , empowered families to speak their truth. Four parents bravely took the stage to share three-minute stories that inspired connection, understanding, and action.
A Sibling Panel , led by Jessica Ruth , featured five siblings who shared candid reflections on growing up alongside a rare diagnosis.
Hosted a Sibshop for siblings ages 9 to 13, offering a joyful and supportive space to connect and feel seen.
Offered 1:1 expert meetings , giving families rare access to medical geneticists, IEP and transition specialists, and genetic counselors for personalized guidance.
Facilitated sessions on:
State and federal advocacy
IEPs, transition planning, and post-secondary options
Fundraising strategy and nonprofit sustainability
A dedicated family videographer captured powerful moments throughout the weekend, documenting the voices and leadership of families living with OCNDS

Removing Barriers to Participation. Recognizing the real challenges families face when attending rare disease conferences, the Foundation prioritized accessibility and inclusion.
Thanks to the generosity of Joan & Charlie Davis , 100% of hotel rooms for families and researchers were fully covered.
Awarded $10,000 in travel scholarships to families needing financial support.
Provided childcare for every family and researcher who needed it .
All meals were included, removing logistical and financial barriers.
These supports allowed families to fully engage, connect, and contribute to the research shaping their loved ones’ futures.
Conference sessions were recorded, published on YouTube, and made translatable into multiple languages to ensure ongoing global access.

Measuring Impact: What Families Told Us. To understand the conference’s impact, we administered a post-event survey. The results were clear and affirming:
100% of families strongly agreed they felt more empowered to talk about OCNDS after the conference.
100% strongly agreed or agreed they felt better equipped to advocate for their child or loved one.
100% strongly agreed or agreed they felt their voice was heard and valued by the Foundation and or researchers.

CONCLUSION: Looking Ahead to 2026

As we close 2025, one thing is clear: the CSNK2A1 Foundation is no longer building momentum, we are carrying it. This year reflected what our community makes possible when families, researchers, clinicians, volunteers, and donors move in the same direction. We expanded globally. We deepened our data. We strengthened our research pipeline. And we showed, again, that lived experience is not adjacent to science, it is what makes science matter.

In 2026, we will keep doing what we do best: connecting the dots on purpose. We will grow participation in Simons Searchlight and Citizen Health so our datasets become even more powerful and usable for researchers. We will advance our research portfolio across multiple models and time horizons, while expanding clinical phenotyping work that improves care today and supports trial readiness tomorrow. We will continue to close gaps in the medical literature through case reports that help clinicians recognize OCNDS sooner and treat families with more confidence.

We will also lean into what comes next. With the OCNDS knowledgebase and research portal expected to come online, we are building infrastructure that will make collaboration faster, data more actionable, and research more scalable. Our early investments in gene therapy strategy will continue with careful, community-informed planning, ensuring that as new opportunities emerge, we are ready to evaluate them responsibly and move with intention.

Beyond research, we will keep showing up for families with language access, trusted education tools, meaningful connection points, and programs that reduce isolation. We will continue advocacy efforts that protect funding, access, and innovation because progress does not happen in a vacuum. And we will keep growing our capacity, so this work remains sustainable, consistent, and strong.

None of this happens without the people who believe that rare does not mean impossible. To every family who shared their story, every researcher who pursued a hard question, every volunteer who gave their time, and every donor who invested in what is still unfolding, thank you. You are helping transform OCNDS from newly recognized to deeply understood, and from deeply understood to treatable.

Fueling Discovery. Built for Impact. And headed into 2026 with bold breakthroughs in our sights.

Project: Disease Concept Model

Thu, 08 Jan 2026 09:19:30 GMT

Primary Researcher: Grace Branger - Vanderbilt University Medical Center

Grant Details

Project funded for 1.5 years for a total of $5,000, supported through a partnership with COMBINEDBrain.

Aims of Grant

A Disease Concept Model (DCM) is a foundational research tool used to systematically capture what it is truly like to live with a specific condition. For Okur-Chung Neurodevelopmental Syndrome (OCNDS), there is a critical need to center the lived experiences of individuals and families to ensure that future research, clinical trials, and care strategies reflect outcomes that matter most to the community. The primary aim of this project is to develop an OCNDS-specific Disease Concept Model by directly engaging individuals with OCNDS and their caregivers. This model will inform researchers, clinicians, industry partners, and regulators about the most meaningful symptoms, daily-life impacts, and priorities for therapeutic development and clinical decision-making.

Project Description

This study will involve 60–90 minute, semi-structured interviews with individuals diagnosed with OCNDS and/or their caregivers. Interviews will explore symptom experiences, functional challenges, and quality-of-life impacts across the lifespan.

Insights gathered will be systematically analyzed to identify core disease concepts and outcomes of highest relevance to the OCNDS community. These findings will directly support future clinical trial endpoint selection, natural history studies, and patient-centered care strategies.

Eligibility

Individuals worldwide with a confirmed diagnosis of OCNDS
All ages welcome
Participants must be English-speaking

Contact

Grace Branger

�� grace.e.branger@vanderbilt.edu

Research Explained: Prenatal Diagnosis of Okur-Chung Syndrome: Ultrasound Findings and Implications of CSNK2A1 and KCNQ5 Variants

Thu, 08 Jan 2026 08:22:02 GMT

Kratochwila et al.

Research Explained by: Lindsay Bass, CSNK2A1 Foundation Intern

Edited by: Gabrielle Rushing, PhD, CSNK2A1 Foundation Chief Scientific Officer

Reviewed by Parent Advisory Board members: Michelle Proctor-Simms and Miranda Finn

Please be aware that this article includes sensitive subject matter.

Link to Publication

Okur-Chung Neurodevelopmental Syndrome (OCNDS) is a rare disease caused by heterozygous mutations in the CSNK2A1 gene. This means that only one copy of the altered gene is required for OCNDS to occur. OCNDS is typically characterized by neurodevelopmental delay, distinct facial characteristics, and speech and language issues. Mutations in a different gene, KCNQ5 (which regulates neuron function), were identified in patients with severe epilepsy leading to cognitive impairment.

A report by Kratochwila et al. described a 37-year-old pregnant South American woman with a non-related partner. The woman regularly consumed cannabis and tobacco throughout her pregnancy. She had a history of voluntary pregnancy terminations and uncomplicated deliveries. The first trimester was uneventful, and prenatal screening showed a lower risk for various chromosomal abnormalities . However, at 21(+3) weeks, an anatomy scan showed cerebellar hypoplasia (an under-developed cerebellum ) and other brain malformations, as well as fetal growth impairment. At 23(+4) weeks, a detailed ultrasound revealed further brain abnormalities, including the presence of a Blake’s pouch cyst (which normally resolves with fetal development) and vermis rotation (turning of the central part of the cerebellum). Facial abnormalities were also observed, including a short nasal bone.

A genomic hybridization array showed no chromosomal abnormalities. However, whole exome sequencing, which analyzes all exons (the protein coding regions) in the human genome, identified novel de novo (new and not inherited) mutations in CSNK2A1 and KCNQ5 . CSNK2A1 had a probable pathogenic substitution ( missense variant ) c.118C>G (p.Gln40Glu), affecting a conserved loop structure of the protein. KCNQ5 had a heterozygous nonsense mutation (p.Ser429Argfs*8), classified as pathogenic. A multidisciplinary clinical team advised the parents of the poor prognosis due to the fetal brain abnormalities and genetic findings. The couple chose to terminate the pregnancy at ~26 weeks. Sequencing of the parents’ DNA did not detect either of these mutations; therefore, risk of recurrence in future pregnancies is low but not zero. Further studies are needed to confirm whether the fetal brain malformations observed here were due to mutations in CSNK2A1 , KCNQ5 , or both genes. This is the first report of a CSNK2A1 mutation detected before birth.

Research Explained: Rapid method for evaluation of CK2 enzymatic activity and CK2alpha/CK2beta-interaction in Escherichia coli cell lysates

Thu, 08 Jan 2026 07:42:12 GMT

Gast, A. et al.

2025

Research Explained by: Lindsay Bass, CSNK2A1 Foundation Intern

Edited by: Gabrielle Rushing, PhD, CSNK2A1 Foundation Chief Scientific Officer

Reviewed by Parent Advisory Board members: Michelle Proctor-Simms and Jessica Wilfong

CK2 is a protein kinase that adds phosphate groups to various proteins to impact their function. CK2 consists of two activating CK2α or CK2α’ subunits and two regulatory CK2β subunits. Mutations in the gene that encodes the CK2α subunit can lead to Okur-Chung Neurodevelopmental Syndrome (OCNDS). Of the 68 different mutations associated with OCNDS described currently, many have shown an impact on CK2 kinase activity (or the ability to add phosphates to proteins, also called phosphorylation); yet it is not known how these mutations impact the interaction of CK2α with CK2β, which could provide insight into future treatment strategies.

Gast et al. developed an efficient method to evaluate the impact of CK2α mutations on binding interactions with CK2β and kinase activity using bacterial E. coli cells to express CK2α protein. The function of CK2α mutant proteins (or variants) can be studied by breaking open the bacterial cells and testing the unpurified CK2α in the cell contents (or lysate). However, the amount of CK2α present must be accounted for. To do so, Gast et al. fused a red fluorescent protein called mScarlet to a fully functional shortened version of CK2α (called CK2α ^1-335 ) to measure the amount of CK2α ^1-335 present during analyses. Gast et al. confirmed that the CK2α ^1-335 -mScarlet protein maintained the same functional capacity as the non-labeled (normal) CK2α ^1-335 . Two CK2α variants described in individuals with OCNDS, CK2α ^R47G and CK2α ^R191Q , were expressed with the fluorescent mScarlet, and CK2α ^1-335 activity was determined. Briefly, wildtype and variant CK2α ^1-335 were respectively combined with a substrate peptide (a small protein fragment that the phosphate can be added to) and ATP (the source of phosphate). The amount of phosphorylated and non-phosphorylated protein was determined by a process called capillary electrophoresis . The results showed that CK2α ^{1-335, R47G} and CK2α ^{1-335, R191Q} exhibited decreased kinase activity when evaluated on their own and in complex with the regulatory subunit CK2β ^1-193 , compared to the wildtype CK2α.

Measurement of the increased activity of CK2α ^1-335 with increasing amounts of CK2β ^1-193 was used to calculate the binding strength of CK2α to CK2β, as determined by the dissociation constant (KD) . A lower KD value indicates stronger binding of CK2α to CK2β. Modeling was used to evaluate the uncertainty of the determined KD values. Through this method, the CK2α ^R191Q variant showed decreased kinase activity and decreased binding strength to CK2β compared to wildtype.

This method to study CK2α activity in E. coli cell lysates is time- and cost-effective and limits potential background signal, as E. coli does not express its own CK2 protein. One substrate peptide was tested here, but this method could be used to evaluate phosphorylation of other protein substrates especially since CK2 is known to have many substrates. Additionally, other protein-protein or small molecule interactions with CK2α could be tested using this method in the future. Using this method to understand the functional impact of CK2 mutations could provide insight into treatment strategies, whether that be identifying potential drug candidates for mutations with shared functional impacts, or even grouping OCNDS individuals that might be more or less likely to respond to a specific treatment based on how their mutation impacts CK2 function.

Glossary

Adenosine triphosphate (ATP): a major energy source for all living cells that transfers energy by donating a phosphate group

Capillary electrophoresis: a lab method that separates molecules (such as DNA or proteins) based on how fast they move through a tiny tube, which is determined by their size and electric charge.

Link: Figure 4, https://www.technologynetworks.com/analysis/articles/an-introduction-to-capillary-electrophoresis-theory-practice-and-applications-378737

CK2α ^R47G: a CK2α variant. The amino acid (building block of a protein) arginine (R) is at position 47 of the CK2α protein structure, but in some individuals with OCNDS, this amino acid is changed to glycine (G). This change (or mutation) can impact the function of the CK2 protein.

CK2α ^R191Q : a CK2α variant. The amino acid arginine (R) is at position 191 of the CK2α protein structure, but in some individuals with OCNDS, this amino acid is changed to glutamine (Q). This change (or mutation) can impact the function of the CK2 protein.

Dissociation constant (KD): a number that explains how strongly one molecule binds or sticks to another. A lower KD value indicates stronger binding.

E. coli : a type of bacteria, or single cell living organism. Some types of E. coli are harmful to humans, but other types are not harmful and are often used in scientific research because the cells are easy to grow, can survive in various conditions, and are easy to manipulate. These cells are often used to produce genes or proteins of interest for research use.

Fluorescent protein: a special kind of protein that glows a specific color under a certain type of light which can be used to detect or track a protein of interest in research experiments.

Substrate peptide: a protein fragment that is modified by an enzyme (protein that makes a process go faster). In this case, the CK2α enzyme adds a phosphate group from ATP (see definition) to the substrate peptide.

Wildtype: the normal version of a gene, protein or organism (often compared to a mutated or modified version).

Science Snapshot - Gene Therapy Delivery to the Brain

Wed, 10 Dec 2025 15:33:58 GMT

Author: Michael Dryzer, PhD

Editor: Gabrielle Rushing, PhD, CSNK2A1 Foundation Chief Scientific Officer

CSNK2A1 Foundation Parent Advisory Board Reviewers: Connie Johnson, Katie Keiser

Gene therapy has been gaining traction in recent years as more treatments become available for previously incurable diseases affecting various parts of the body, including the central nervous system (CNS) . Now, scientists are capable of designing therapies to treat the root genetic cause of diseases like sickle cell, spinal muscular atrophy, and more (see this Science Snapshot article for more in depth information on the mechanisms for gene therapy). However, an ever-present issue in this field is the question of delivery, especially to the brain and spinal cord. Despite this difficulty, researchers have made significant breakthroughs in recent years that will allow them to deliver gene therapies along several avenues to the brain.

The Blood-brain Barrier: The Guardian of the Central Nervous System

The difficulty in administering gene therapies to the brain is due to a unique nervous system defense called the “ blood-brain barrier ” (BBB). The BBB is a shield made up of specialized cells surrounding all blood vessels that make contact with the brain. Its purpose is to restrict the movement of most substances from the blood to the brain. For the most part, this is advantageous; however, this does make it difficult to deliver vectors , the microscopic carriers of gene therapies, to the brain where they can correct the genetic cause of disease. Fortunately, researchers working on ways to circumvent the BBB have discovered several promising methods of delivering gene therapy vectors to where they are needed.

Methods of Delivery

There are a variety of methods for gene therapy delivery to the brain, each of which comes with its own collection of advantages and disadvantages. Generally, the predominant methods can be divided into three categories: direct injection, intravenous injection, and intranasal delivery.

Direct injection

As its name implies, direct injection aims to deliver a given gene therapy directly to one of several parts of the CNS rather than through the blood or other pathways. This completely avoids the BBB, prevents blood-filtering organs like the spleen and liver from absorbing vectors before they reach their targets, and reduces the chance of the gene therapy unintentionally affecting other parts of the body. All direct injection methods involve opening a path to the CNS in order to inject the therapy with a needle. Currently, this is the most common method of delivery, but it also comes with the most risks and limitations.

Into the brain tissue

Of all the delivery methods mentioned in this article, intraparenchymal delivery is one of the most common methods currently being used in preclinical and clinical studies for treating brain diseases. For this method, a path for a needle is opened by boring a hole into the skull under which the target brain area is located. The needle can then be inserted through the hole into the brain tissue for direct delivery. Direct access to the brain is what makes this method simultaneously advantageous and dangerous. On one hand, direct access means it is possible to precisely target a particular brain region and use a lower therapeutic dose since the target region is readily available. On the other hand, an invasive surgical procedure such as this comes with the risk of infection, hemorrhaging, and loss of nerve cells at the injection sight (particularly if the dose is too high). Furthermore, this method can only influence the limited number of brain regions at or adjacent to the injection site; this is acceptable for conditions like Parkinson’s disease where the damage is at a specific location in the brain, and less so for conditions with more diffuse effects on the brain like Alzheimer’s disease and lysosomal storage diseases.

Into the cerebrospinal fluid

The other type of direct injection involves insertion into the cerebrospinal fluid (CSF) and can be split into three subtypes depending on the injection site: intracerebroventricular injection (ICV), intra-cistern magna injection (ICM), and intrathecal injection (IT). This method takes advantage of the fact that the brain and spinal cord are immersed in a special, nutrient-rich fluid called the CSF. The CSF circulates throughout the inside of the brain via chambers called ventricles that are placed at specific locations to allow for efficient uptake by nerve cells. It also flows around the outside of the brain and spinal cord in a region called the subarachnoid space, which is enclosed between two of the three protective layers surrounding the CNS.

Each of the three subtypes of this method choose a different part of the CNS where the CSF flows as injection sites. ICV injects into the ventricles, the spaces located within different regions of the brain. ICM targets the subarachnoid space lying behind the cerebellum at the base of the brain and at the top of the spinal cord. IT disregards the brain altogether, instead injecting into the spinal cord’s subarachnoid space via a lumbar puncture at the base of the spine. Although the injection sites are different, the mechanisms of these methods are the same: after injection, the vector for the gene therapy is carried by the flow of the CSF to the rest of the CNS where it can deliver its cargo.

Like the intraparenchymal method, the three CSF injection methods bypass the BBB. But unlike the intraparenchymal method, the CSF methods take advantage of the CSF’s access to the spinal cord and brain, allowing for delivery to more regions beyond the injection site. However, these methods also come with their disadvantages. For ICV and ICM, surgical procedures are still required to grant access through the skull to the injection sites. Also, while the CSF flows to many parts of the brain, some of the more inaccessible parts deeper inside the brain remain untouched. Finally, the CSF provides its own set of challenges: while not being as restrictive as the BBB, the ependymal barrier that sits between the CSF and the brain can block vectors from entering brain tissue. Furthermore, the CSF is constantly being circulated and cleared from the CNS, so any vectors that don’t reach their targets in time are flushed away.

Intravenous injection

The methods mentioned above are the most common and effective ways we have today to deliver gene therapies to the brain, but they come with high risk and can result in harmful outcomes. Fortunately, researchers are developing more effective and safer processes for gene therapy delivery. Intravenous (IV) injection is a much safer method by which a therapy is injected into the bloodstream (via a vein in the arm for example), which carries it to the blood vessels supplying the CNS. To get around the BBB, scientists have come up with ways to alter the vector or the BBB itself to allow the passage of the therapeutic agents.

Using engineered vectors

There are a variety of vectors capable of carrying a gene therapy and moving to a specific location in the body for delivery. The most popular vector right now is a viral vector called an adeno-associated virus (AAV) vector . With our current knowledge of how genes work, scientists have removed the part of the genetic code in the AAV that tells it to “make virus” and replaced it with snippets of code containing a gene therapy and instructions for where to go in the body. Until recently, scientists had to rely on finding naturally occurring AAVs (like a type of AAV called AAV9) that were already capable of passing through the BBB. But now, by modifying the viral shell of an AAV, they’re able to develop new AAVs readily able to pass through the BBB.

In lieu of using viral vectors like AAVs, scientists have developed other types of vectors that serve the same purpose. A new kind of vector being developed is the lipid nanoparticle (LNP) , a very small sphere made up of lipids, the same fatty material that normally encases our cells. Like a viral vector, genetic code for a gene therapy can be inserted into an LNP for delivery. Also, the fatty shell of the LNP can be modified with markers that enable it to cross the BBB and only interact with certain types of cells. LNPs can be injected intravenously where they will travel to the brain and be taken up by the target brain cells. Upon doing so, the genetic cargo is released into the cell where it will modify existing genetic code and correct any errors.

Using focused ultrasound

Besides modifying the vector, another way to get an intravenously injected vector past the BBB is to change the permeability of the BBB itself. There is ongoing research studying how focused ultrasound in combination with microbubbles can open the BBB to let a vector pass into the CNS. Ultrasound is the same technology used to image fetuses as they grow in the womb; it involves using high-frequency sound waves (higher than our ears can pick up) to noninvasively and safely deliver energy through the skull to the underlying brain tissue. Microbubbles are microscopic bubbles of gas that can be injected intravenously alongside a vector. Once both are carried to the BBB, the microbubbles are collapsed with focused ultrasound; this causes the BBB to temporarily become more permeable, allowing for the transfer of vectors into the brain.

Both IV methods come with a unique set of advantages and disadvantages. First, both methods are noninvasive and can be repeated. Because they are injected into the bloodstream, these approaches can circulate throughout the whole body (and later into the CNS) and are more suitable for conditions like ALS where both peripheral and CNS tissue need to be treated. Similarly, when it comes to the CNS itself, the diffuse nature of these methods allows for the treatment of Alzheimer’s disease, Huntington’s disease, and other diseases that spread throughout the brain. Unfortunately, there are also disadvantages. Since the treatments are delivered intravenously, vectors run the risk of being absorbed by the liver and spleen or unintentionally releasing their cargo onto the wrong organs. Due to this, injections usually have higher dosages to make sure that at least some vectors reach their target, but this can cause problems with toxicity. For AAVs, their viral nature might provoke an immune response, which could compromise the ability of the vector to deliver the gene therapy. Furthermore, most people have already been exposed to AAV, so their immune systems might have antibodies that can neutralize AAV vectors, preventing them from reaching the brain and delivering their cargo. Notably, this applies to LNPs as well; although they are not made of virus, they can be recognized as foreign agents by the body and can provoke an immune response.

Intranasal delivery

The final method of note is the intranasal delivery of gene therapy. This approach exploits the fact that two parts of the brain, the optic nerves in the eyes and the olfactory nerve in the nose, are exposed to the external world. A vector can be sprayed into the nose, where it can travel up to the olfactory nerve and into the brain. This is a desirable method as it is noninvasive like the IV methods, easy to perform, and can be done repeatedly, even by the patients themselves, to increase delivery amounts. There are also some issues with this method. First, only a limited volume of material can be administered through the nose each time. Second, the vector might inadvertently affect nerves along the delivery pathway into the brain. Third, this method could be compromised by disease conditions like upper respiratory tract infections. Finally, researchers are uncertain of whether both the vector and the gene product can enter the brain via the olfactory nerve; right now, it seems like only the vector can proceed while the gene therapy is left behind in the olfactory nerve.

Future Directions

These are the prominent methods being used and researched at this time. Each has its own set of pros and cons that make it better or worse at treating certain conditions. Yet, researchers are working to improve methods for therapeutic delivery. For example, to prevent delivery to the wrong organs, brain-specific identifiers are being added to vectors like the AAV to ensure that its cargo can only be taken up and released in the brain. Also, for the direct injection methods, new imaging techniques including real-time imaging of the brain are being used to make sure the right injection sites are being targeted. Widespread adoption of gene therapy for all brain diseases is still far from being realized, but advances are being made every day. It will soon be possible to finally cure many of the diseases previously thought to be untouchable.

Author Bio

Michael Dryzer is a postdoctoral researcher at Johns Hopkins University where he completed his PhD in Biomedical Engineering. As a graduate student, Michael studied how fatigue and disease influence how humans make decisions about effort and reward. Currently, he is investigating the effectiveness of low-dose ketamine infusions to alleviate fatigue symptoms in patients with multiple sclerosis. Outside of the lab, Michael enjoys reading science fiction, playing video games, and being outdoors.

Glossary

Adeno-associated virus: Small viruses that infect humans and can be modified to deliver gene therapies

Blood-brain barrier: A highly selective semi-permeable membrane that separates the blood in the circulatory system from the brain

Central nervous system: A subsection of the human nervous system that is composed of the brain and spinal cord and manages functions like thought, memory, and reflexes

Cerebrospinal fluid: A clear, colorless fluid that circulates around the brain and spinal cord, providing protection and nourishment

Focused ultrasound: A non-invasive medical procedure that uses high-intensity ultrasound waves to target and treat specific tissues deep within the body

Lipid nanoparticles: Very small spherical particles composed of fatty lipids made to deliver drugs and gene therapies

Vector: A delivery system in the form of a virus or small particle that contains genetic information and can transport it to the inside of a cell

Ventricle: One of the four connected fluid-filled cavities located in the brain

References:

Viveros, A. (2022, November 22). Gene-delivering viruses reach the brain in a step toward gene therapy for neurological diseases. Broad Insitute. https://www.broadinstitute.org/news/gene-delivering-viruses-reach-brain-step-toward-gene-therapy-neurological-diseases .

Lee, Y., Jeong, M., Park, J., Jung, H., & Lee, H. (2023, October 2) Immunogenicity of lipid nanoparticles and its impact on the efficacy of mRNA vaccines and therapeutics. Experimental & Molecular Medicine. 55: 2085-2096. https://doi.org/10.1038/s12276-023-01086-x.

DiCorato, A. (2024, May 16). New gene delivery vehicle shows promised for human brain gene therapy. Broad Institute. https://www.broadinstitute.org/news/new-gene-delivery-vehicle-shows-promise-human-brain-gene-therapy .

Ye, D., Chukwu, C., Yang, Y., Hu, Z., & Chen, H. (2024, August) Adeno-associated virus vector delivery to the brain: Technology advancements and clinical applications. Advanced Drug Delivery Reviews. 211: 115363. https://doi.org/10.1016/j.addr.2024.115363 .

National Ataxia Foundation. (2024, September 5). All about gene therapy [Video file]. https://www.youtube.com/watch?v=rqqTemH-1XQ&t=537s .

Wang, C., Xue, Y., Markovic, T., Li, H., Wang, S., Zhong, Y., Du, S., Zhang, Y., Hou, X., Yu, Y., Liu, Z., Tian, M., Kang, D.D., Wang, L., Guo, K., Cao, D., Yan, J., Deng, B., McComb, D.W., … , Dong, Y. (2025) Blood-brain-barrier-crossing lipid nanoparticles for mRNA delivery to the central nervous system. Nature Materials. 24: 1653-1663. https://doi.org/10.1038/s41563-024-02114-5 .

Milestone Monday: Look Out, World—He’s Rising

Wed, 10 Dec 2025 13:36:03 GMT

By Terri Jordan

There’s a moment parents like me don’t talk about enough—the moment after high school when the world seems to shrink for our children. Opportunities disappear. Programs end. And it feels like our kids “fall off a cliff” with nowhere to belong, expected to fade quietly into the background. It’s heartbreaking, and it’s real.

But sometimes… You find a place where your child doesn’t fall off a cliff.

They climb.

They grow.

They belong.

And they remind you just how much is possible when someone believes in them.

For us, that place is the local food bank distribution center. For over two years, one morning a week, this has been more than volunteer work—it has been a lifeline of purpose and possibility.

My child has taken on tasks that many never imagined he could do.

He’s broken down boxes and loaded the compactor.

He’s pulled cans from donation bins and helped pack them.

He’s assembled boxes with the box machine—more than 600 in less than 3 hours recently.

He’s worked the assembly line, filling senior boxes with care.

He’s stacked finished boxes onto pallets for distribution, helping feed our community.

He’s scooped fruit and vegetables from huge crates into smaller milk crates so that other volunteers can sort and bag them for distribution.

And then there’s the moment that still brings tears to my eyes:

It took him 42 minutes to learn how to assemble a vegetable box. Forty-two minutes of struggling, trying, wanting to quit, pushing forward, and believing—because I believed in him. I could have stepped in. I could have redirected him. But I knew he could do it.

And he did.

Once it clicked, he and two other volunteers went on to assemble 212 boxes.

This is why we don’t give up.

This is why we don’t accept limits placed on our children.

This is why we keep searching for places where they can grow, contribute, and be seen for all they can do.

It isn’t easy to find opportunities. It isn’t easy to fight for them, either. But when you do—when your child finds their place and begins to soar—The world better be ready, because here they come. ��✨

From Pakistan to Global Partnership: How One Medical Student Helped Inspire a Growing Rare Disease Internship Program

Thu, 20 Nov 2025 13:15:56 GMT

In 2022, the CSNK2A1 Foundation’s Founder and President, Jennifer Sills, joined the Global Genes RARE Compassion Project, the first international educational program designed to pair medical students with rare disease families to deepen understanding and empathy. Through this initiative, she was matched with Maahin Manzoor Khan, a medical student at Shifa College of Medicine in Islamabad, Pakistan. Over the course of three months of virtual meetings, the two discovered a shared mission: to bridge the gap between the medical community and families affected by rare diseases. Their partnership became the spark for what would grow into the CSNK2A1 Foundation Internship Program, led by Dr. Gabrielle Rushing, the Foundation’s Chief Scientific Officer.

A Conversation with Maahin Manzoor Khan

Early Inspiration

Q: Can you share a bit about your educational journey and what drew you to rare diseases?

Maahin: I completed my Bachelor of Medicine and Surgery degree from Shifa College of Medicine in 2024. My interest in rare diseases grew as I learned how easily these conditions can be overlooked. It isn’t about a lack of compassion. It’s about the limits of our training and how diverse symptoms can appear unrelated when the underlying connections aren’t yet established. Working with this organization helped me see that more clearly. It showed me how essential it is for future clinicians to think beyond traditional symptom categories and to approach medicine with the curiosity of a physician-scientist. That perspective is what draws me to this field and keeps me committed to improving rare disease awareness.

Connecting Through Global Genes

Q: What was it like meeting Jennifer through the RARE Compassion Project?

Maahin: Meeting Jennifer through the RARE Compassion Project was eye opening. Hearing her story. The uncertainty, the misdiagnoses, and the years spent searching for answers. It all underscored how essential it is for physicians to listen carefully to families. In Pakistan, limited access to genetic testing means many rare diseases hide behind symptom-based treatment. What stayed with me most was the emotional commitment Jennifer and her daughter brought to every conversation. Their dedication became a source of inspiration for me and pushed me to support this cause with even greater purpose.

Joining the Foundation

Q: How did this connection lead to your internship with the CSNK2A1 Foundation?

Maahin: Jennifer and I stayed in touch after the program ended. I wanted to continue learning about OCNDS and rare disease research. She introduced me to Dr. Gabrielle Rushing, and I joined as one of her first interns.

Working with Dr. Rushing was a great experience. She brings deep expertise and a strong commitment to mentorship. I helped with patient data analysis, early-stage research discussions, and now am working on clinical case reports. It was the first time I saw how patient stories directly shape research priorities.

The Power of Global Mentorship

Q: What was it like collaborating with a U.S. based foundation from Pakistan?

Maahin: Collaborating with a U.S.-based foundation from Pakistan came with real hurdles. Time zones, internet limitations, and restricted access to some databases all made the work harder. But having leadership and mentorship that stayed accessible made the transition surprisingly smooth. What also stood out to me was the diversity within the internship program itself. Interns come from many countries, cultures, and backgrounds, yet we’re all working toward the same goal. That sense of shared purpose made the distance feel smaller and the experience far more meaningful.

On Access and Opportunity

Q: Do you think you would have had the same opportunity if you had just reached out to a U.S. foundation directly?

Maahin: Honestly, probably not. The Global Genes program opened a door that wouldn’t have existed otherwise. As a student in Pakistan, there’s often no clear path to reach U.S. organizations, not because of lack of talent, but because of limited access, funding, and visibility.

That’s why I think programs like Global Genes, and now the CSNK2A1 Foundation’s internship program under Dr. Rushing, are so important. They make it possible for students like me to engage with researchers and, more importantly, with the real families who inspire it.

Looking Ahead

Q: How has this experience shaped your future goals?

Maahin: This experience clarified the path I want to pursue. I hope to train as a clinician in the United States and become a strong advocate for rare disease awareness, especially in Pakistan. During my internship, I also encountered a unique neurodevelopmental case outside of the Foundation’s work. Navigating that situation showed me how tightly connected the rare disease world is and how often families struggle to find the right pathways on their own. It made me even more committed to building global bridges, raising awareness, and helping families reach the organizations that can support them. I want to be part of a future where ‘rare’ feels seen, understood, and never isolated.

Why Dr. Rushing Believes in Mentorship

For Dr. Gabrielle Rushing, the Foundation’s Chief Science Officer, the decision to build an internship program was deeply personal. Her own scientific journey began as an intern, a formative experience that gave her the mentorship, exposure, and confidence to pursue a career in neuroscience and rare disease research. She knows firsthand how a single opportunity can ignite a lifelong passion for discovery.

That early experience shaped her belief that mentorship is one of the most powerful tools for accelerating science. When Dr. Rushing joined the CSNK2A1 Foundation, she wanted to pay that forward by creating a space where students could learn the “why” behind the science, not just the methods. She envisioned a program that would give students hands on exposure to translational research while keeping them grounded in the stories of the families driving that work.

Under her leadership, the Foundation’s internship program has flourished, welcoming students from across the globe, from California to Pakistan. We shape every internship around the individual - what they’re curious about, the time they can commit, and where their skills fit within our current priorities.

“Being an intern changed the course of my career,” Dr. Rushing often says. “If we can offer that same spark to someone else, especially students who might not otherwise have access, then we’re not just mentoring researchers, we’re training future advocates.”

A Legacy of Collaboration

What began as a single pairing through Global Genes has blossomed into a robust internship program at the CSNK2A1 Foundation, has now welcomed 19 interns and counting from around the world. Under Dr. Rushing’s leadership, the program provides hands-on experience in research, patient engagement, and science communication, empowering the next generation of rare disease leaders.  Dr. Rushing reflects, “Our work with Maahin showed us what’s possible when we connect across borders and backgrounds. His dedication helped shape the vision for our internship program, one that gives students the chance to contribute meaningfully to the future of OCNDS research, no matter where they live.”

Closing Thought

Maahin’s journey is a reminder that innovation often begins with empathy, and that when global collaboration meets shared purpose, boundaries fade and hope grows.

Making a Difference Through Advocacy: My Journey to the Dáil

Wed, 05 Nov 2025 12:54:24 GMT

By Elizabeth McNamee

My name is Elizabeth, and I live in Ireland. As a mom to a child with OCNDS, I’ve learned that sometimes the most powerful way to create change is to raise your voice. Advocacy wasn’t something I ever expected to do, but I knew if I wanted to see real improvements for families like mine, I had to step up.

I began by reaching out to a councillor in my area for advice. I asked how I might get our issue brought into the government building for the upcoming budget. He suggested contacting the five sitting TDs (that’s what our parliamentarians are called here in Ireland) and asking them to raise a “topical issue.”

Out of the five, two agreed to help. I chose to move forward with the one I had seen advocate strongly on previous issues. We spent a couple of days going back and forth on the details, and once he put in the request to bring the issue to the Dáil, it was approved. That same night, he raised OCNDS in the chamber. To my amazement, the Minister agreed that it should be considered in the context of the national budget. It all happened so fast, one minute I was drafting words at home, and the next, the halls of government were echoing with our concerns.

For me, advocacy is about persistence, clarity, and knowing that even one person can move the needle when the cause is urgent and just.

I chose advocacy because while we are also fundraising for the CSNK2A1 Foundation, we need answers now for Leo. Doctors here don’t seem too concerned about looking into his muscle issues because it isn’t a “noted” symptom of OCNDS, but when I speak to other mothers, they’ve seen exactly what I’m seeing in their children. We need to know why his muscles are deteriorating. We need answers for him and for every other child and adult suffering with OCNDS.

Hearing OCNDS mentioned in the Dáil for the first time was incredibly moving. Having it spoken about so publicly is desperately needed for such an unheard-of syndrome. To have Leo’s needs recognized by the people who have the power to help felt like such a positive step in a time of uncertainty and worry.

What surprised me most was how kind and compassionate TD Paul Murphy was when I reached out to him, and how quickly he moved from the first email to having the issue addressed in the Dáil.

My hope is that this vote will mean better access to genetic testing for OCNDS. I hope it brings forward research here in Ireland, so that we can begin to understand what the future looks like. I hope it means doctors will receive training on OCNDS, so that parents are no longer handed an outdated printout or put in the position I was in, where when I asked about life expectancy, the doctor simply googled it in front of me. Parents deserve better than that.

To other parents who want to bring their child’s needs to government: research the process in your country, and go to your representatives knowing exactly what you’re asking for. The clearer and more direct you are, the more likely they are to help.

Now that I’ve taken this first step, I’m waiting to see what the budget decides. Whatever the outcome, I know this is only the beginning. I believe if you make enough noise, eventually you will be heard.

The Wait is Worth It!

Thu, 30 Oct 2025 19:11:14 GMT

By Kirsten Kline

I quickly realized that in the realm of raising a special needs child there is a game that must be played and it’s The Waiting Game. There are endless versions of this game, each with its own “exciting” challenges. A few versions that I have recently beta tested include:

waiting for the doctor’s scheduling team to call you back;
waiting on hold with the insurance company;
waiting for approval from the insurance company;
waiting for the appointment;
waiting for the “doctor will see you now”;
waiting for the test results;
waiting for the meltdowns to subside;
waiting for your child to hit that next milestone that we so desperately want them to reach;
waiting for the bedtime reprieve after a long day of meltdowns and mishaps

The list is endless. Each day you get to partake in a waiting game whether you want to play or not.

They say that patience is a virtue and it’s one that I, admittedly, struggle with especially when it comes to getting my three year old son, KV, the services he needs and deserves.

One of the more recent waiting games that I begrudgingly partook in was with KV’s therapist and insurance.

Over the summer, my wife, Annie, and I attended the OCNDS Conference in Denver. While we were there we had the opportunity to sit down, one-on-one, with Dr. Okur and ask him all of our burning questions. One of our concerns was how could we help our non-verbal son find his “voice”. He told us to give him every outlet and option imaginable to communicate with us, this included the use of an Augmentative and Alternative Communication (AAC) Device.

My wife and I were a little surprised by the AAC device suggestion. His speech therapist had been telling us to just wait, he wasn’t ready for the device. He hadn’t mastered the gentle touch of the iPad and would struggle with the AAC device. I mean, I didn’t think his therapist was wrong. I had sat in on his sessions. I had watched my son bang away at the iPad unable to navigate it, especially with the same ease and precision his peers seem to so effortlessly possess. So sure, I thought, maybe we should wait. However, armed with this new knowledge I received from Dr. Okur, I decided that this waiting game was over.

The day after we returned from the Denver trip, KV had a therapy session, I marched in overflowing with new information that I had gleaned from the conference. I offloaded all of the information onto his therapist and requested we help KV acquire an AAC device. Turns out the waiting game I was playing was not over. Again, she said she thought he wasn’t ready. I took that as a “no” but over the following weeks continued to push for the AAC device. His therapist finally gave us some options to try to acquire the device, but all of the options came with just a “little” caveat. Because of insurance red tape we would have to wait six to eight months to receive the device.

Beaten down and disheartened from playing this particular waiting game, I thought my energy levels were fully depleted and that this waiting game might be one that I never beat. Like all parents, there is some type of internal ether of life that we all eventually have to pull from to level up, replenish and to continue on our journey. Knowing that my son’s “voice” depended on my wife and I, I drew from this sacred ether within and found my second wind. “No!” I decided that six to eight months wasn’t a good enough answer. So I took matters into my own hands.

One thing I have learned over the years while navigating this life with our son, is that the more you seem to talk about and put things out into the universe, that more often than not the right people seem to find you. After exhausting all of my options and spending countless hours on the phone with insurance, I finally, in passing, casually mentioned to my son’s BCBA therapist that we were struggling mightily to acquire an AAC device for KV. It turns out she had a solution and mentioned a company I had not heard of before. Upon arriving home that afternoon I contacted the company expecting to be shot down again. I was pleasantly surprised when we were approved the very same day. They said it would be shipped to our home within the next 5 business days. I waited anxiously for days, anticipating the usual Boss Character to pop out at the very last minute. You know the type, the fire-breathing Bowser, there to engage you in some epic battle, their one and only goal - to stop you from achieving your quest. The days slowly passed, to my shock and surprise the main Boss Character never arrived. No fire-breathing lizard came knocking on my door, instead *Ding* a notification - the AAC device has been delivered. This waiting game was over. I had beaten this quest.

My son is now in his 90 day trial period with the device. It took him a few weeks to get acclimated but he finally got the hang of it. He is able to navigate the device and seemingly with ease. It turns out he had a lot to say and he knows what he wants and needs. My wife and I were shocked to learn that one of his favorite treats is bananas dipped in ketchup. He is constantly requesting this combo and downs this tasty treat with a big smile on his face. Our son is working so hard to learn all of the exciting things the AAC device has to offer him. He is now able to communicate simple requests and even tell us when he needs to go potty. The AAC device has given our son his “voice” and it is the most beautiful sound we have ever heard.

As one waiting game comes to a close, I know another game will start very soon. My rest period will be over before I know it. I now realize that I will forever be a player in The Waiting Game. There are no winners or losers, just endless levels, some more challenging than others. Some with big victories and some that make you question if you even know how to play this game at all. At the end of the day I can say with 100% certainty that the wait is worth it! To see your child grow, develop and flourish from the services you have fought so hard to acquire for them is a victory like no other. So you know what, I take it back, there is a winner and that winner is our children!

Nicki’s Journey to an OCNDS Diagnosis

Fri, 10 Oct 2025 07:31:27 GMT

By Aryana Adeline Valle-Portela

Nicki’s journey to an OCNDS diagnosis for her son, Silas, began the moment he was born. As the youngest of six children, Silas faced challenges early on, born prematurely after Nicki developed preeclampsia, he struggled with feeding and was soon diagnosed with hypotonia. Encouraged to seek early intervention, Nicki pursued evaluations that led to physical, occupational, and speech therapy. By the time Silas turned one, he was receiving eight hours of in-home therapy each week, but as he grew, his developmental delays became more pronounced.

Determined to find answers, Nicki embarked on a long journey of medical referrals, testing, and consultations with specialists. An MRI and microarray test revealed little, but the persistent gaps in Silas’ development signaled that something more was at play. In September, he was approved for Whole Exome Sequencing (WES), and within a month, the results confirmed an OCNDS diagnosis. The moment brought both relief, finally having an explanation, and worry, as Nicki grappled with the reality that Silas’ challenges were part of a lifelong condition.

Despite the emotional weight of the diagnosis, Nicki found solace in the CSNK2A1 Foundation. The community offered immediate connection and guidance, allowing her to learn from other parents navigating similar experiences. From medical advice to emotional support, the foundation became a lifeline, reinforcing that she wasn’t alone.

While Silas remains nonverbal, Nicki continues to advocate for his needs, confronting the unique challenges of OCNDS, particularly in communication. She hopes for greater awareness, research advancements, and more tailored support systems for families like hers. To those newly facing an OCNDS diagnosis, her message is clear: the diagnosis changes everything and nothing at the same time—your child is still the same, and with the right support, they will be okay.

Terri’s Journey to Diagnosis

Fri, 10 Oct 2025 06:10:14 GMT

By Aryana Adeline Valle-Portela

Terri’s journey to an OCNDS diagnosis for her son Cody was long and challenging, taking 16 years of persistence and advocacy. From the start, Cody displayed developmental delays and health challenges. He struggled to swallow, a condition so severe that medical professionals were unsure whether he would survive without a feeding tube. Instead of giving up, Terri worked tirelessly to teach him how to swallow. Cody’s milestones came much later than expected—he began crawling at 2.5 years old, walking at 3.5, and talking at age 9 after years of using a communication device and American Sign Language.

Throughout these years, Terri and her family were navigating uncharted territory, searching for answers to Cody’s symptoms while grappling with the daily demands of his care. They underwent three different genetic tests with no clear results, leaving them in a frustrating state of limbo. The uncertainty was emotionally taxing, as they had to address each symptom individually without the guidance of a cohesive diagnosis. Despite setbacks, Terri sought out various therapies to help Cody develop—speech therapy, music therapy, horse therapy, and more—while also adapting his school environment to meet his needs.

When the diagnosis finally came at age 16, it was both a relief and a turning point. The OCNDS diagnosis brought clarity to their journey, enabling Terri to understand the root of Cody’s challenges. However, it also marked the beginning of a new phase—educating doctors and school staff about the condition and advocating for Cody’s needs in a system unfamiliar with OCNDS.

Terri’s experience underscores the resilience required of families navigating rare diagnoses. She reflects on the strength it took to persevere during those 16 years of uncertainty and how the OCNDS community has provided a sense of understanding and connection that was missing for so long.

Our Special Homecoming Ask

Thu, 25 Sep 2025 14:21:21 GMT

By Amber Reynolds

One of the things I’ve learned as a parent raising a child with Okur-Chung Neurodevelopmental Syndrome (OCNDS) is that joy and grief often live side by side. There are moments when I’m bursting with pride over Harper’s growth and happiness, and then there are times when my heart quietly aches for the milestones and experiences that may never come.

As Harper has entered high school, I’ve found myself facing new stages of this journey. Recently, homecoming season arrived. My social media feeds filled with pictures of teenagers holding cute posters, smiling, and saying “yes” to being someone’s date. I loved seeing those moments for my friends and their children, it truly made me smile, but it also stung. Deep down, I knew that Harper would likely never have that traditional “homecoming ask.”

Instead of sitting in that sadness, Brian and I decided to create our own version of the experience. We asked Harper to homecoming ourselves. Since we’re chaperoning the dance, it felt like the perfect opportunity to make her feel included and celebrated. We made it special, just like all the other kids get to experience, and the best part is, she said YES with the sweetest smile. ❤️

For us, this moment was more than just about homecoming. It was about reclaiming a milestone in a way that fits Harper’s journey. It was about showing her that she deserves all the joy, all the celebration, and all the love. And it was about reminding ourselves that while our path looks different, it can still be filled with meaningful and beautiful moments.

To my fellow OCNDS families: I know how hard it can feel to see your child miss out on milestones that the world defines as “normal.” But I also know how much power there is in creating new traditions, finding joy in unexpected places, and celebrating the milestones that are uniquely ours.

This weekend, I get to go to homecoming with my daughter, and I couldn’t be prouder. ��✨

Science Snapshot - Understanding Side Effects from Medications

Tue, 16 Sep 2025 05:14:46 GMT

Author: Ingrid Vallee, PharmD, PhD, CSNK2A1 Foundation Volunteer Writer

Editor: Gabrielle Rushing, PhD, CSNK2A1 Foundation Chief Scientific Officer

CSNK2A1 Foundation Parent Advisory Board Reviewers: Penelope Gatlin, Eric Finn, and Claire Whitehill

In this blog, we break down what “side effects” really mean, how they differ from adverse effects, and how to assess the risk-benefit balance of a treatment.

Introduction

When starting a new treatment—especially one that may affect the brain—it’s normal to have questions about safety and what kinds of effects to expect. Whether a treatment is appropriate is defined by two major criteria ¹ :

Safety: is the drug safe to take? These studies are meant to determine the risks associated with taking the drug and the acceptable level of side effects. What is considered “acceptable” is usually defined by regulatory agencies (such as the FDA) in consultation with medical experts and is weighed against the potential benefits of the drug for patients. However, what feels “acceptable” can also differ for each person or family, depending on their individual circumstances, values, and tolerance for risk.
Efficacy: does the drug work and reduce expected symptoms? This evaluates the capacity of a drug to produce a particular benefit under ideal conditions.

These questions guide how medications are tested, approved, and monitored over time. When a drug is under consideration to be put on the market, both criteria are thoroughly studied in controlled groups of selected individuals, where the safety trials are conducted first. Safety and efficacy are then considered together under a common criterion called risk-benefit assessment : does the benefit of the drug outweigh the risk? Are the side effects acceptable considering that benefit?

After a drug is put on the market and becomes available to the public, this risk-benefit criterion is still updated regularly. Effectiveness is measured as the “real life” risk-benefit assessment, meaning how effective the drug is at targeting major symptoms versus causing side effects.

*Important Note: Health professionals and patients are encouraged to report side effects through the FDA’s online portal MedWatch which also provides safety alerts.

Definitions:

A Side effect is defined as an unintended effect of a drug, occurring in addition to its desired or primary therapeutic effect. These effects can range in severity from minor annoyances to severe, life-threatening complications. Side effects are expected and can be beneficial or harmful ² . They are often tolerable and can be used therapeutically. When a drug is approved to be put on the market, side effects may be known and they are tracked throughout the life cycle of the drug. For example, antihistamines such as Benadryl are intended to treat allergies, but one of their side effects is drowsiness. This drowsiness can also be harnessed therapeutically as a sleep aid. Side effects are expected to resolve on their own or to be tolerable, thus not requiring any intervention. When we consider side effects of certain drugs, two main effects can be described: adaptation effects and side effects. We discuss the details below.

Adverse events/effects are harmful, unintended, and undesired responses that occur during its appropriate use. They are not predictable, harmful (ranging from mild to severe), and can even be life threatening. Due to the potential severity and the unpredictability of the effects, they typically require immediate attention and management. An example of an adverse effect is an allergic reaction leading to anaphylaxis (severe allergic reaction that blocks the ability to breathe), which is life threatening. Different types of adverse effects can occur, depending on the cause, manifestation, and outcomes. More details can be found here ³ .

Real World Example: side effects and psychotropic agents

Psychotropic agents are drugs or other substances that affect how the brain works and may cause changes in mood, awareness, thoughts, feelings, or behavior ⁴ . The main types include antidepressants, anti-anxiety medications, stimulants, antipsychotics, and mood stabilizers. A common example is diazepam (brand name Valium®).

Like many medicines, psychotropic drugs can cause side effects. Since they act directly on the brain, these drugs are more likely than others to produce noticeable side effects. Broadly, these effects can be grouped into two categories:

Persistent side effects : These occur throughout the full course of treatment and are usually well known and documented. One example is diazepam, which is typically used to treat anxiety, alcohol withdrawal, muscle spasms, and seizures. As a benzodiazepine, it works by calming abnormal overactivity in the brain. Diazepam is known to cause drowsiness in some people and this persists as long as the drug is being used ⁵ .
Initial or transient side effects (also called adaptation effects) : Initial/transient side effects occur during the first few days to weeks starting the drug and often improve as the body adjusts to the drug. This happens when taking medicines that are intended to be taken over the course of a longer treatment, such as Fluoxetine (Prozac®). Prozac® is a selective serotonin reuptake inhibitor (SSRI) used to treat a wide range of mental health conditions. It is one of the most commonly prescribed antidepressants. Prozac® is known to cause nausea at the beginning of the treatment for some people, which usually goes away over time ⁶ .

It is important to remember that these categories are not always clear-cut. Some symptoms may overlap, and it can be hard to predict whether they will persist or improve. Every medication carries both benefits and risks, so discussing side effects with a healthcare professional before and during treatment can help families know what to expect.

What should families know?

Tracking symptoms before and after starting a new medication can help patients, families, and healthcare providers decide whether the benefits outweigh any side effects and if the treatment remains acceptable over time.

Here is an example flow chart of how the process of trying a new drug may work:

This table summarizes the different types of side effects discussed:

References:

Evaluating Drug Efficacy and Safety - Clinical Pharmacology. Merck Manual Professional Edition https://www.merckmanuals.com/professional/clinical-pharmacology/concepts-in-pharmacotherapy/evaluating-drug-efficacy-and-safety .
Sanchez, K. Adverse Reaction vs. Side Effect: What Are the Differences? GoodRx https://www.goodrx.com/drugs/side-effects/vs-adverse-reaction .
Adverse Drug Reactions - Clinical Pharmacology. Merck Manual Professional Edition https://www.merckmanuals.com/professional/clinical-pharmacology/concepts-in-pharmacotherapy/evaluating-drug-efficacy-and-safety .
Definition of psychotropic substance - NCI Dictionary of Cancer Terms - NCI. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/psychotropic-substance (2011) .
Diazepam: MedlinePlus Drug Information. https://medlineplus.gov/druginfo/meds/a682047.html .
BCPS, S. P. B., PharmD. 12 Prozac (Fluoxetine) Side Effects: Insomnia, Nausea, and More. GoodRx https://www.goodrx.com/prozac/prozac-side-effects .

Project: Investigating CK2-Mediated Phosphorylation of SYNGAP1 and Its Role in Neurodevelopmental Disorders

Fri, 29 Aug 2025 05:57:17 GMT

Principal Investigator: Heike Rebholz, PhD

Laboratory of Signaling Mechanisms in Neurological Disorders

Institut de Psychiatrie et Neuroscience de Paris (INSERM)

Co-funded by the CSNK2A1 Foundation and Syngap Research Fund (SRF)

Overview

This collaborative grant brings together two rare disease communities, Okur-Chung Neurodevelopmental Syndrome (OCNDS) and SYNGAP1-related disorders, to investigate a shared biological mechanism that could help explain overlapping symptoms such as seizures, learning difficulties, and autism spectrum features. The project focuses on CK2-mediated phosphorylation of SYNGAP1.

Scientific Background

SYNGAP1 is a critical postsynaptic protein that regulates neuronal signaling and plasticity. Its proper function depends on phosphorylation, a chemical “switch” that modifies how proteins behave. Dr. Rebholz’s team has discovered that phosphorylation of SYNGAP1 is markedly reduced in brain tissue from mouse models of OCNDS, where mutations in the CK2α subunit (CSNK2A1) lead to reduced kinase activity. By identifying how CK2 regulates SYNGAP1, this project aims to uncover a convergent mechanism between OCNDS and SYNGAP1 disorders, providing insight into why these syndromes share clinical features and pointing toward possible therapeutic strategies that could benefit multiple neurodevelopmental disorders.

Specific Aims

Aim 1: Identify phosphorylation sites. Determine which SYNGAP1 sites are directly phosphorylated by CK2 and whether OCNDS-linked CK2 variants impair this activity.

Aim 2: Define biological consequences. Examine how phosphorylation affects SYNGAP1 localization in neurons, its role in synaptic signaling, and regulation of Ras/Rap pathways.

Aim 3: Assess in vivo effects. Introduce phospho-mutant SYNGAP1 into wildtype mice to test impacts on seizures, repetitive behaviors, and memory.

Significance

By bridging two gene communities, this study embodies the Foundation’s mission to accelerate research and therapeutic development through collaboration. If CK2-mediated phosphorylation of SYNGAP1 proves to be a shared pathogenic mechanism, it could open the door to cross-disorder treatment strategies that target common pathways rather than individual genes.

Funding

This project is supported with a total of $160,000 in funding over two years (2025–2027), with 85% funding by SRF and 15% funding from CSNK2A1 Foundation.

Research Explained: Clinical and molecular results in 15 Turkish patients with Wiedemann‑Steiner syndrome

Fri, 29 Aug 2025 05:46:37 GMT

Research Explained: Clinical and molecular results in 15 Turkish patients with Wiedemann‑Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1 gene

Authors: Maahin Manzoor Khan, MBBS, CSNK2A1 Foundation Intern

Written by: Gabrielle Rushing, PhD, CSNK2A1 Foundation Chief Scientific Officer

Research Explained Summary

Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder that affects multiple systems of the body, primarily characterized by its impact on development and growth. It is inherited in an autosomal dominant pattern, which means that a single altered copy of the responsible gene is sufficient to cause the condition. However, it is crucial for families to understand that the vast majority of individuals diagnosed with WSS are the first and only members of their family to have the condition (called a de novo genetic change). This is the same inheritance pattern observed in OCNDS. Changes in the KMT2A gene were discovered to be disease-causing in 2012, just 4 years prior to the discovery of OCNDS.

In this study, the clinical and molecular characteristics of 15 unrelated Turkish WSS patients with 8 novel KMT2A variants were evaluated, expanding on the molecular spectrum of the syndrome with new clinical diversity. Additionally, in one patient they found a de novo pathogenic variant in the CSNK2A1 gene associated with Okur-Chung Neurodevelopmental Syndrome (OCNDS) in an individual with WSS.

The individual with OCNDS had a novel frameshift variant in the KMT2A gene, confirming a diagnosis of WSS as well as a pathogenic splice site variant (c.510+1G>A) in the CSNK2A1 gene, confirming a second diagnosis of OCNDS.

The diagnostic challenge emerges due to significant symptom overlap between WSS and OCNDS as many neurodevelopmental disorders have overlapping clinical presentations. The dual diagnosis patient exhibited a mosaic of features characteristic of both conditions, including developmental delay, microcephaly, hypotonia, and many shared facial traits like hypertelorism , ptosis , and a broad nasal bridge. This makes a distinction based on physical examination alone nearly impossible.

This case emphasizes the power of modern genetic diagnostics in determining two diagnoses for a patient that would not be feasible based on symptom presentation alone.

Given the broad phenotypic variability in such genetic disorders, making a diagnosis based solely on clinical features is often challenging. In this context, whole exome sequencing (WES) significantly facilitates the diagnostic process. Serving as the ultimate testament to the indispensable role of comprehensive genetic testing in modern medicine.

Science Snapshot – How Drug Repurposing Can Help Rare Disease Communities

Wed, 27 Aug 2025 10:37:20 GMT

Author: Monica Strain, CSNK2A1 Foundation Intern

Edited by: Gabrielle Rushing, PhD, Chief Scientific Officer, CSNK2A1 Foundation

Reviewed by: Elisabeth Mellinger, Parent Advisory Board Member, CSNK2A1 Foundation

In this Science Snapshot, we look at drug repurposing – a promising strategy that may help bring treatments to rare disease communities faster, including those affected by OCNDS. We’ll explore what drug repurposing is, how it works, and why it holds unique potential for rare disease research and patient outcomes.

What is drug repurposing?

Drug repurposing – also known as drug repositioning - is a strategy for using an existing drug for a new treatment or medical condition for which it was not indicated before. In other words, it’s giving a known drug a new therapeutic purpose. This approach offers several benefits:

It’s often safer. Since the drug has already been found safe in preclinical models and humans, scientists already understand its safety profile, which lowers the risk of unexpected side effects or failures.
It saves time. Many of the early stages of drug development - such as testing in animals and safety studies in humans - have already been completed, allowing scientists to progress faster into studies focused on the new indication.
It can be more cost effective. Developing a brand-new drug can take over a decade and cost billions of dollars. Repurposing an existing drug can significantly reduce both time and expenses – although the savings depends on the specific case.
It may lead to new scientific discoveries . Repurposing a drug may reveal new targets or biological pathways that can be further explored by scientists, which can accelerate progress towards future therapies.

To summarize, drug repurposing can offer a safer, faster, and more cost-effective option to deliver treatments, which is important for rare diseases, where approved treatments are limited and urgently needed.

How do scientists identify drug repurposing opportunities?

Scientists use a variety of methods to identify existing drugs that might be effective for new conditions. Some common approaches include:

Computational screening : Scientists use computer based methods to rapidly analyze large datasets and uncover connections between approved drugs and disease-related genes, proteins, or pathways using specialized bioinformatic tools such as software designed to manage, analyze, and interpret biological data
High throughput screening : In laboratory settings, scientists systemically test a wide variety of existing drugs on disease models (such as cultured cells and animals) to see if any produce beneficial therapeutic effects. This method allows for rapid evaluation of many candidates at once.
Clinical observations : Sometimes patterns observed in clinical data (e.g., data from medical records) can provide valuable information about new therapeutic uses for that drug. For example, if patients taking a drug for one condition show unexpected improvements in unrelated symptoms, researchers may explore whether the drug can be repurposed for that new indication.
Mechanism-based approaches : If an existing drug is known to target a specific biological process that is also involved in a different disease, scientists may investigate whether the drug could be effective in that context. This is useful when the underlying biology of two conditions overlaps.

Once a promising drug candidate is identified, it still needs to undergo clinical studies to assess its effectiveness and safety in the new indication.

Why does drug repurposing matter in rare diseases?

There are over 7,000 known rare diseases, yet fewer than 5% have an approved therapeutic agent by the U.S. Food and Drug Administration (FDA). For many families, this means often waiting years or even decades for therapeutic options.

Drug repurposing offers real promise for rare diseases for several reasons:

Scientific benefits : Many rare diseases are complex and often poorly understood, with limited research into their underlying mechanisms. Repurposed drugs can help scientists uncover new insights into disease mechanisms by observing how known compounds interact with lesser-known conditions.
Regulatory support : Agencies like the FDA offer special incentives to encourage rare disease drug development, including Orphan Drug Designation. These incentives such as tax credits, reduced fees, and market exclusivity–make drug repurposing more appealing and feasible for researchers and companies. Market exclusivity means that there is a set period of time when no other company can sell the same drug for the same condition, even if their version is approved. For rare diseases, this helps encourage companies to develop treatments by giving them a limited time to recover their costs without competition.
Faster translation to patients : Since repurposed drugs have already passed safety testing for other uses, they can often move more quickly into clinical trials for new indications. This accelerates the timeline for potential treatments, providing hope for patients and families who have waited too long.

In the case of OCNDS, where the disease mechanisms are still being explored, drug repurposing allows researchers to build on existing knowledge from similar conditions that may share overlapping molecular or cellular features.

Real-World Examples

1. Rett Syndrome

At Vanderbilt University Medical Center, researchers are exploring the potential of three repurposed drugs – ketamine, vorinostat, and donepezil – for treating Rett syndrome, a rare neurodevelopmental disorder. These FDA approved drugs were originally treated for other conditions such as depression, cancer, and Alzheimer’s disease, but additional preliminary research suggests they may offer therapeutic benefits for Rett syndrome patients as well.

2. MAN1B1-CDG (congenital disorder of glycosylation (CDG)

Another example comes from MAN1B1-CDG. Research led by Dr. Clement Chow at the University of Utah has highlighted ibuprofen (Advil), a common over-the-counter pain reliever, as a potential therapy for MANB1-CDG through a drug-repurposing screen. With guidance from medical professionals, three MAN1B1-CDG families tried ibuprofen and carefully recorded changes. Within weeks, parents reported that their children’s keratosis pilaris (“chicken skin”) cleared up, social engagement increased, and communication improved - such as saying new words, using more speech, pointing to objects, and expressing themselves more. Some children also developed new skills, such as writing letters and brushing their teeth without help. When ibuprofen treatment was stopped, these improvements faded, suggesting the medication may have contributed to symptoms improvement. Stories like this provide hope that similar strategies could one day benefit families affected by OCNDS and other rare diseases.

Challenges to drug repurposing:

While drug repurposing offers many advantages, it also presents several challenges. Some key hurdles to this approach include:

Choosing the correct disease target : Not every drug will work in every condition, even if the biology overlaps. A drug might act on a shared pathway, but how the pathway functions can vary depending on the disease. Scientists need a deep understanding of the disease’s underlying mechanisms to predict whether a drug will have a beneficial effect.
Clinical trial design : Even if a drug is already approved for another use, scientists must still show that the drug is safe and effective in the new condition. This requires carefully designing new clinical trials to evaluate safety, dosing, and effectiveness in a different group of patients and requires funding to support the trial.
Intellectual property and investment hurdles : Many repurposed drugs are off patent, meaning companies can’t exclusively sell them. This limits the potential profit and can make it difficult to justify the high cost of new clinical trials. Without a clear financial return, some companies may not invest in developing the drug for a new use. In these cases, public funding, nonprofit support, and rare disease advocacy are critical to advance the research forward.

Looking ahead:

Although drug repurposing comes with its own set of challenges, it remains a hopeful and practical approach in the search for rare disease treatments. By leveraging existing knowledge and previously approved therapies, this approach can accelerate progress, reduce development risks, and most importantly, bring new treatment options to patients faster.

For the OCNDS and rare disease community, drug repurposing represents a promising step forward in the journey toward effective and accessible therapies. Ongoing research efforts are currently exploring this approach for OCNDS. A study led by Dr. Vishnu Cuddapah (Baylor College of Medicine) is working to identify drugs that may help treat sleep and circadian rhythm disturbances associated with the disorder. In parallel, Dr. Clement Chow (University of Utah) is screening compounds to find candidates that could improve a broader range of OCNDS-related symptoms. Additionally, Unravel Biosciences is conducting a pilot study using RNA sequencing from individuals with OCNDS to identify potential therapies, focusing on the most common mutation, K198R.

Together, these studies reflect a growing commitment to advancing therapeutic options for the OCNDS community through the strategic use of drug repurposing.

References

Pushpakom, S., Iorio, F., Eyers, P. A., Escott, K. J., Hopper, S., Wells, A., Doig, A., Guilliams, T., Latimer, J., McNamee, C., Norris, A., Sanseau, P., Cavalla, D., & Pirmohamed, M. (2018). Drug repurposing: Progress, challenges and recommendations. In Nature Reviews Drug Discovery (Vol. 18, Issue 1). https://doi.org/10.1038/nrd.2018.168

Roessler, H. I., Knoers, N. V. A. M., van Haelst, M. M., & van Haaften, G. (2021). Drug Repurposing for Rare Diseases. In Trends in Pharmacological Sciences (Vol. 42, Issue 4). https://doi.org/10.1016/j.tips.2021.01.003

https://www.prnewswire.com/news-releases/unravel-announces-collaboration-with-vanderbilt-university-medical-center-to-support-upcoming-multicenter-us-clinical-study-in-rett-syndrome-that-includes-rvl-001-302144431.html

https://news.vumc.org/2024/01/09/vumc-receives-13-million-grant-to-coordinate-multisite-clinical-trial-for-rett-syndrome-treatment/

https://www.csnk2a1foundation.org/project-drug-repurposing-screen-using-ocnds-fly-model

https://www.csnk2a1foundation.org/copy-of-project-investigating-ck2-activity-across-ocnds-mutations-and-disease-models

https://www.csnk2a1foundation.org/project-investigating-sleep-and-circadian-dysregulation-in-okur-chung-neurodevelopmental-syndrome-ocnds

https://www.saintjohnscancer.org/translational-research-departments/current-research-topics/introduction-to-drug-repurposing-for-rare-diseases/

https://perlara.substack.com/p/n-of-3-study-of-ibuprofen-for-man1b1?utm_source=publication-search

Figure made using BioRender

Science Snapshot – Gene Therapy

Sun, 24 Aug 2025 15:25:08 GMT

Author: Tierney Baum, PhD, CSNK2A1 Foundation Strategic R&D Consultant

Edited by: Gabrielle Rushing, PhD, CSNK2A1 Foundation Chief Scientific Officer & Alison Kujawski, MPH, Director of Outreach, American Society of Gene + Cell Therapy (ASGCT)

For many disorders the common treatments like medications or surgeries focus on managing symptoms or improving the effects of the condition on a person’s life. Gene therapy, however, is an approach that aims to tackle the root cause of genetic disorders by targeting a gene variant with the goal of slowing or stopping disease progression. The field of gene therapies has seen a growing number of FDA approved treatments in recent years, with hundreds of clinical trials underway. The research is moving quickly, offering hope for treating many disorders that were once considered untreatable.

What Should Parents Know?

Currently, there are no approved or trial-stage gene therapies specifically developed for patients with OCNDS. However, since OCNDS is caused by just one gene, it’s possible that gene therapies could be developed in the future to potentially improve symptoms or slow or stop disease progression. Participating in natural history studies and other OCNDS research initiatives is vital to help researchers better understand OCNDS so that future treatments such as gene therapy can be developed in the future. Learn more about participating in OCNDS research here .

ASGCT Glossary

To learn more about the different types of gene therapies you may hear about, the American Society of Gene & Cell Therapy (ASGCT) offers a Gene Therapy Glossary. This resource explains key terms in plain language and can help you better understand how each approach works, where it fits in the broader field of genetic medicine, and how it may relate to current or future treatments. You can explore the glossary here: ASGCT Gene Therapy Glossary .

What is gene therapy?

Gene therapy works by changing the genes inside a patient’s cells either by replacing, inactivating (silencing), or repairing faulty genes. Currently, we do not have sufficient information to know whether all variants in the CSNK2A1 gene that cause OCNDS would benefit from gene therapy. It is likely that each of these approaches could work depending on the type of variant and which part of the gene is affected.

1. Replacing a gene

Gene replacement therapy involves introducing a working copy of a gene to the person’s cells to restore proper cell function. This approach can be used to treat genetic disorders where the variant causes a specific protein to not be produced or function as it should.

2. Inactivating a gene (gene silencing)

Inactivating gene therapies, or gene silencing, is where the delivered genetic material prevents or inhibits the activity of a gene that is already present in a cell. Gene silencing often decreases the amount of a specific protein being made. For example, most cardiovascular diseases are caused by high LDL-cholesterol and lipoproteins; by inactivating genes that have an important role in the production of lipoproteins it is possible to significantly reduce their levels.

3. Repairing a gene

Repairing a gene, or gene editing, corrects pieces of DNA by changing or deleting the information within the affected gene. Genetic material is sent to directly edit or change pieces of DNA already located within a cell to correct the protein being made by that DNA. Gene editing uses technology that is highly precise to make these types of changes. After cutting the DNA, the cell naturally repairs itself leading to permanent genetic changes that allow the cell to function normally. Learn more about Gene Editing .

Genes cannot be easily inserted into cells and require a mode of delivery using a carrier called a vector . Vectors are usually viruses because they can recognize specific cells and transfer genetic material into cells. Viruses can be modified to carry disease therapeutic genes rather than viral genes that would normally cause disease. This new genetic material, such as a working gene, is delivered into the cell using a vector . A vector is like a package used to deliver a specific message. Viruses can be used as vectors because they have evolved to be very good at getting into cells. Scientists have learned how to remove the viral genes and use this same ability to treat or prevent disease. In this case, their goal is to insert the new genetic material into the cell. All viral vectors are tested many times for safety prior to being used in humans.

The vector can be delivered in one of two ways:

ex-vivo treatment removes the person’s own cells and delivers the genetic material to these cells outside the body. The modified cells are then returned to the body.
in-vivo treatment means the genetic material is delivered directly into the person, such as through an injection.

Why Gene Therapy Matters for Rare Disorders

Many rare genetic disorders are caused by a mutation in a single gene. By fixing the gene, gene therapy could be potentially curative for some disorders, which often have no other treatment options. Rare diseases don’t usually attract the same attention from pharmaceutical companies compared to more common conditions, because they affect fewer people. To encourage research and development, some government programs offer incentives to make it easier to develop treatments for these diseases.

Here are two examples of gene therapies used in rare disorders:

Spinal Muscular Atrophy [gene replacement]

Spinal Muscular Atrophy (SMA) is a genetic disorder that affects the spinal cord and nerves in children, resulting in muscle wasting and weakness that is often fatal. SMA is caused by a disruption in the function of the SMN1 gene. An FDA-approved gene therapy delivers a new, working copy of the SMN1 gene administered one time to children under 2 years old. This gene infusion makes up for the missing or nonfunctional SMN gene and helps motor neurons begin to work properly. This breakthrough therapy has been shown to be very effective in treating SMA.

Duchenne Muscular Dystrophy [gene replacement using a shorted, functional version of the gene]

Duchenne Muscular Dystrophy (DMD) is a disorder that affects children leading to fatigue, weak muscles, and difficulty with movement. DMD typically becomes more severe as children get older and most do not survive past age 30. While there is no cure for DMD, gene therapies have greatly improved symptoms. The injection of AAV vectors is used to deliver dystrophin-producing genes directly into cells in the muscle. The dystrophin helps protect and strengthen muscle fibers, thus improving DMD symptoms.

Challenges & Risks of Developing New Gene Therapies

Even though some gene therapies have been approved by the FDA, many others are still in clinical trials. Developing new therapies is challenging because:

Getting genetic material into cells : It’s difficult to deliver genes into the right cells in the body.
Targeting the correct cells or gene : Ensuring that the gene reaches the right location and works properly can be tricky especially when the brain is a desired target due to the blood-brain-barrier .
Minimizing side effects : Any treatment can come with risks, and gene therapy is no different.

Blood-brain-barrier – a layer of cells that acts as a filter to the brain keeping harmful substances and pathogens out while allowing essential nutrients and oxygen to pass through. It also limits the entry of immune cells to the brain which is why we refer to the central nervous system as ‘immune privileged’.

Immune system reactions : The body’s immune system might react to the new genes, or the viral vector used to deliver them. The American Society of Gene + Cell Therapy (ASGCT) has a short Q&A on this topic .
Targeting the wrong cells : If the therapy targets the wrong cells, it could cause unwanted effects.
New genetic errors : In rare cases, gene editing could introduce new mistakes in the DNA.
Long-term effects are unknown: This is why gene therapies are monitored in a person for years following treatment.
No guarantees: There is always a chance that the investigational treatment may not work or may have unexpected side effects.

Because gene therapy is still new, we don’t yet know all the potential risks or how long a treatment may last. However, depending on the severity of the disorder, the benefits might outweigh the risks. Before gene therapy clinical trials begin, they must be reviewed and approved by an Institutional Review Board (IRB), a group of experts who make sure that safety is a priority. The FDA’s Center for Biologics Evaluation and Research (CBER) also regulates gene therapy products to ensure their safety and effectiveness. ASGCT has an overview of the clinical trials process you can review here .

For more information about gene therapy and answers to common questions, check out this video from the National Organization for Rare Disorders (NORD): Gene Therapy: Your Questions Answered and a talk from our 2024 OCNDS Virtual Symposium by our Scientific Advisory Board member, Dr. Rachel Bailey . The American Society of Gene + Cell Therapy also has a Gene Therapy 101 resource .

References

FDA https://www.fda.gov/vaccines-blood-biologics/cellular-gene-therapy-products/what-gene-therapy

Mayo Clinic https://www.mayoclinic.org/tests-procedures/gene-therapy/about/pac-20384619

National Human Genome Research Institute https://www.genome.gov/genetics-glossary/Gene-Therapy

ASGCT Glossary: https://patienteducation.asgct.org/gene-therapy-101/glossary?utm_source=chatgpt.com

Research Explained: OCNDS core features are conserved across variants, with loop-region mutations driving greater symptom burden

Wed, 20 Aug 2025 14:12:30 GMT

Authors: Elena Bagatelas, Maahin Manzoor Khan, and Gabrielle V. Rushing

Written by: Elena Bagatelas, CSNK2A1 Foundation Intern and Gabrielle Rushing, PhD, Chief Scientific Officer, CSNK2A1 Foundation

Link to Publication: https://www.frontiersin.org/journals/human-neuroscience/articles/10.3389/fnhum.2025.1589897/full

Helpful Definitions:

Phenotype : The traits or symptoms you can see or measure in a person.
Missense variant : A change in a gene that swaps one building block in a protein for another. This can change how the protein functions.

Disclaimer:

This study focuses specifically on individuals with missense variants in the CSNK2A1 gene. These are changes that alter a single building block in the resulting protein. Other types of variants (such as nonsense, deletions, frameshift, or splice-site changes) were not included in this analysis, so the findings may not apply to all individuals with OCNDS.

Research Explained Summary

In this study, researchers at the CSNK2A1 Foundation looked at 48 people with OCNDS to understand how changes in different parts of the CSNK2A1 gene (called missense variants ) affect symptoms. This gene makes a protein called CK2α, which helps regulate many important processes in the brain and body.

The researchers grouped individuals based on where their genetic changes occur in the protein’s structure. Some were in special “loop” regions which are important for protein function and others were outside those regions. They found that over half of the group had changes in two specific loops: the P+1 loop and the Glycine-rich loop , which have been shown to be critical structures for the protein in other studies. This figure shows the CK2 protein with the segments labeled:

People with changes in the loop regions tended to have more symptoms reported by families and doctors, reported as a higher symptom burden . For example, they were more likely to have low muscle tone (hypotonia) and were often diagnosed with OCNDS at a younger age.

However, a higher symptom burden does not always mean a person is more severely affected meaning that everyone with OCNDS is different, and having more symptoms doesn’t always mean they’re more affected. We also still don’t fully understand how symptoms change over a person’s lifetime. That’s why it’s so important to keep studying OCNDS, especially as individuals grow into adolescence and adulthood. Across the whole group, there were several common features:

Speech and language delays were present in all 100% of the individuals.
About ≥50% had trouble sleeping , neurological symptoms , constipation , global developmental delay , hormone-related (endocrine) issues , and vision problems .
82% met the cutoff for a pediatric sleep disorder , showing how serious and common sleep difficulties are in OCNDS.

This study helps researchers define a “core set” of symptoms such as sleep issues, constipation, and speech and language delays , that are especially important to target in future treatments. It also shows that we need better tools to measure how OCNDS affects everyday life, such as clinical severity and quality-of-life scales made specifically for this condition.

This paper was possible using data from Simons Searchlight. Your participation in the Simons Searchlight natural history study is what makes studies like this possible. The more individuals who take part, the more robust and meaningful the findings become. Each person’s experience helps build a clearer picture of OCNDS and brings us closer to discovering the best ways to support and treat this condition.

An Open Letter about OCNDS

Wed, 06 Aug 2025 08:18:22 GMT

By Carley Faith Callahan

Okur-Chung Neurodevelopmental Development Syndrome, also known as OCNDS, is a rare genetic disorder that brings a unique set of challenges to the children diagnosed with it and their families. These challenges can look like speech impairment, delay in brain development, and physical movement abilities. It might be easy for you and I in this room can do a situp, but their brains might not connect, making it harder for them to complete this task. This can span over a lifetime, impacting development, learning, and behaviour. While OCNDS is rare, this does not mean it is not important to research and help find a solution. Having a kid with OCNDS can be overwhelming, but also very rewarding at the same time.

Children with OCNDS often require a more needing approach when it comes to care, including many different doctors, speech therapists, occupational therapists, physical therapists, and behavioural therapists. Accessing these specialised services can be financially tough for some, especially when considering the frequency needed to maximise a child's full potential. Funding can directly eliminate these financial burdens, ensuring that families can afford the necessary therapies and medical care without facing financial hardship.

Beyond direct therapies, funding is important for research into OCNDS. As a rare condition, research efforts are often underfunded compared to more common disorders like autism, speech and hearing impairments, ADHD, and more. However, research is the key to understanding OCNDS and ultimately improving the lives of those affected. Funding can fuel important scientific research, leading to new diagnoses, treatments, and long-term management strategies.

The impact of OCNDS goes far beyond the individual child. Families often face significant emotional and social challenges. Parents may need to take time off work or even change careers to provide the care their child needs. Siblings may experience their own unique set of emotions and adjustments. Funding can support families providing support groups, respic care, and educational resources fitting the specific needs of OCNDS families. Parents may face challenges in not seeing their kids have friends come over and play or hang out.

My best friend has OCNDS and autism. I see her shine every single day, inside and outside of school. But just like everyone, she has her struggles. Every one of us in this room can express our feelings in a way that just comes naturally to us. But her brain functions a little differently than ours. If we get mad, we can easily show that in a way that is easy. But it is harder for her to express how she is feeling. Some days, she will act physically towards others just so that she can express how she is feeling, not with the intention to hurt others. With donations, we will be able to do more research. With that research, maybe she would be able to walk into class one day without a fidget toy in her hand. And maybe she will be able to do a proper jumping jack while still having a smile on her face. This would not only change her, it would change me and her family as we watch her grow.

Investing in the OCNDS community is not just an act of compassion; it's an investment in human potential. Donations can significantly impact the developmental research of children with OCNDS, allowing them to reach their fullest abilities. By providing funding for research, we can empower these children to thrive and ensure that their families are not left to face challenges alone. The rarity of OCNDS should not change the urgency of our support; rather, it should encourage us to work harder in our commitment to ensuring that every child, regardless of how rare their condition is or no condition at all, has the opportunity to live a meaningful and fulfilling life.

Project: Speech and language phenotyping in Okur-Chung neurodevelopmental syndrome

Mon, 04 Aug 2025 14:54:23 GMT

Lead Investigator: Dr. Miya St. John, BSc, MAppLing, MSpPath, PhD

Grant Details:

Project funded for 1 year starting in 2025 for a total of $33,735.05.

Aims of Grant:

Speech and language challenges have been reported in individuals with OCNDS, including delayed communication milestones, atypical oral-motor skills, significantly delayed literacy development, and non-specific ‘impaired speech ability’ as well as autism and autistic-features (see Chiu et al 2017; Okur et al 2016; Owen et al 2018). However, the communication profile remains poorly characterised. No studies to date have sought to examine speech and language in a systematic manner, nor used standardised or formal assessments to delineate between speech and language diagnoses (which is an often misunderstood but clinically important distinction). Currently, our understanding of this condition lacks a clear delineation between motor-based speech disorders (e.g., speech apraxia) compared to cognitive-linguistic impairments. These distinctions are critical for patient care, as without accurate diagnoses, parents and clinicians remain unsure about what therapies to implement, or further may implement incorrect therapies, resulting in wasted time, resources, and money and without positive outcomes.

Our research aims to characterise the speech and language abilities of individuals with CSNK2A1 variants, and in doing so will:

provide a definitive diagnoses, prognoses and treatment planning guide for families and clinicians,
investigate whether there are clinical differences corresponding to variant location (i.e., genotype-phenotype correlation) to more specifically inform prognosis, and
use collected data to delineate optimal speech and language outcome measures to be used in future clinical trials

Research Explained: Genetic aetiologies in relation to response to the ketogenic diet in 226 children with epilepsy

Wed, 07 May 2025 14:34:40 GMT

Authors: Maria Dahlin, Tommy Stödberg, Elin Ekman, Virpi Töhönen, and Anna Wedell

Written by: Gabrielle Rushing, PhD, Chief Scientific Officer, CSNK2A1 Foundation

Link to Publication: https://pmc.ncbi.nlm.nih.gov/articles/PMC12022961/

Research Explained Summary

This study explored how children with different genetic diagnoses responded to the ketogenic diet. The ketogenic diet is a special high-fat, low-carbohydrate eating plan that changes the way your body gets energy. Instead of using sugar from carbs, your body starts using fat for fuel, which can help reduce seizures in some people with epilepsy.

Out of 226 children in the study, only one had a pathogenic (disease-causing) variant in CSNK2A1—the gene associated with Okur-Chung Neurodevelopmental Syndrome (OCNDS). This individual carried the p.S194F variant, located in the activation segment of the CK2 protein—the same region where the most common OCNDS variant, p.K198R, is found. Remarkably, this child became completely seizure-free just three months after starting the ketogenic diet.

Although this is only a single case, it offers real hope and raises important questions: Could dietary therapies like the ketogenic diet benefit others with OCNDS-related epilepsy? Are there specific features of CSNK2A1 that make individuals more responsive to metabolic treatments?

The study as a whole found that responses to the ketogenic diet varied depending on the gene involved. Some mutations were associated with better outcomes than others. The positive result in the child with CSNK2A1 reinforces why it’s essential to include individuals with rare diseases in clinical research and to document single-patient outcomes that might otherwise be overlooked.

If your child with OCNDS has epilepsy and you’re considering the ketogenic diet, this study might be a conversation starter with your neurologist. As always, decisions about treatment should be made with your healthcare team—but we’re here to help empower those discussions with the best science available.

Science Snapshot – Clinical Research IDs – What are they and why do they matter for OCNDS research?

Fri, 11 Apr 2025 04:10:20 GMT

Why You Should Sign Up for a Clinical Research ID (CRID)?

At the CSNK2A1 Foundation, we aim to drive progress in understanding and treating Okur-Chung Neurodevelopmental Syndrome (OCNDS). One of the most powerful ways we can achieve this is by partnering with families like yours to advance research. In this Science Snapshot, Dr. Rushing shares how signing up for a Clinical Research ID (CRID) can make a significant impact for OCNDS research.

What Is a Clinical Research ID (CRID)?

The Clinical Research ID (CRID) is a secure and unique identifier that helps connect patients with research opportunities while protecting their privacy. The CRID makes it easier for researchers to identify eligible participants for clinical studies, collect critical data, and accelerate discoveries—all without compromising your personal information.

Why Does the CRID Matter for Rare Diseases?

Rare diseases, including OCNDS, often face unique challenges in research:

Limited Data: Researchers need as much information as possible to understand these conditions better.
Small Patient Populations: Finding eligible participants for clinical studies can be difficult.
Privacy Concerns: Families are understandably cautious about sharing sensitive information.

The CRID addresses all these challenges. By creating a unique identifier for you or your loved one, the CRID streamlines the process of matching participants with studies. It allows researchers to access de-identified data to make meaningful advances while ensuring your privacy is safeguarded.

How the CRID Enhances Data Sharing Across Studies

One of the most valuable features of the CRID is its ability to enable the use of research data across multiple studies. When you or your loved one participates in a study, the data collected is linked to your CRID. This means researchers can access this data—in a de-identified and secure manner—for other approved studies without needing additional input from you.

This interconnected approach:

Maximizes Impact: Data from a single study can contribute to numerous research efforts, amplifying its value.
Eliminates Redundancy: Researchers can avoid duplicating efforts by using existing data, saving time and resources.
Drives Collaboration: By sharing data across studies, researchers can uncover broader patterns and insights, leading to breakthroughs that might not be possible in isolated studies.

This streamlined data sharing not only accelerates the pace of discovery but also ensures that every contribution you make has a far-reaching impact on the rare disease research landscape.

How Signing Up Helps

When more families sign up, researchers gain access to a larger, more diverse pool of data, helping them uncover patterns and insights faster. Additionally, by signing up for a CRID, you’ll be notified about studies that match your profile, giving you the chance to participate in groundbreaking research.

Your Role in Advancing Science

You might wonder: Does one person really make a difference? The answer is a resounding YES. In the world of rare disease research, every single data point matters. By signing up for a CRID, you’re contributing to a collective effort to advance knowledge, develop treatments, and improve outcomes for families just like yours.

How to Sign Up

Getting started with a CRID is simple:

Visit the CRID website at https://thecrid.org/ .
Follow the step-by-step instructions to create your unique identifier.
Keep your CRID handy to share with your healthcare provider or when signing up for a study.

What happens during sign up?

First, the patient/caregiver will create an account using their email address as their login name and a password that must meet a certain level of complexity (password must be at least 8 characters in length and contain at least one upper letter, one lowercase letter, a number and a special character). Once their account has been created, the patient can create CRID identifiers for up to 5 patients (i.e. for themself and/or their children). The CRID ‘card’ contains basic patient information and the CRID identifier (8 alphanumeric characters and a QR Code). The patient/caregiver can also exercise their right to delete their account at any time. The application currently supports 8 different languages, including English (US and UK), Spanish, French, Portuguese, Italian, German, Dutch and Irish.

Example of the CRID ‘card’:

Together, We Can Make a Difference

The journey to better understanding and treating OCNDS is a marathon, not a sprint. But with tools like the CRID and the unwavering support of families like yours, we’re making incredible strides every day. Your participation drives the discoveries of tomorrow.

Want to learn more?

You can read the CRID publication here: https://www.sciencedirect.com/science/article/pii/S2352914822001186

You can also share your CRID with Simons Searchlight:

Questions?

Please email research@csnk2a1foundation.org

From Diagnosis to Advocacy: Michelle Proctor-Simms' Journey with OCNDS

Thu, 03 Apr 2025 04:28:19 GMT

By Aryana Adeline Valle-Portela

When Michelle’s daughter, Claire, was diagnosed with OCNDS at the age of 10 through the Care for Rare research study, it was both a relief and a challenge. After years of uncertainty, the diagnosis provided answers, but it also introduced new obstacles—managing behavioral issues, finding effective treatments, and adjusting to a new reality. However, Michelle found solace and strength in the CSNK2A1 Foundation, where she connected with other families navigating similar experiences.

Motivated by the support and knowledge she gained, Michelle became an active member of the foundation. She joined the Parent Advisory Board in 2020, just two years after Claire’s diagnosis, eager to give back to the community that had been a lifeline for her own family. Her involvement quickly deepened as she embraced opportunities to support other parents, share resources, and foster a sense of belonging for those new to the OCNDS journey.

As the foundation’s regional ambassador for Canada, Michelle has played a key role in uniting families across the country. She has helped parents navigate the complexities of an OCNDS diagnosis, organized family gatherings, and contributed to strengthening the foundation’s mission of building a robust, informed community. Michelle treasures the close relationships she’s developed with other parents, whom she describes as compassionate, resilient, and inspiring.

For Michelle, the CSNK2A1 Foundation represents more than just a support network; it’s a pioneering movement driving change and advancing research. She remains motivated by the opportunity to contribute to something greater, ensuring that new families feel the same sense of hope and community she experienced. Through her efforts, Michelle has helped the foundation grow while empowering others to face the challenges of OCNDS with strength and optimism.

Looking ahead, Michelle dreams of a future with better management strategies for OCNDS symptoms and an expanded natural history study to inform care standards. She is committed to fostering a supportive environment for families navigating this rare condition, ensuring they never feel alone on their journey.

Through her dedication, Michelle has not only helped shape the foundation’s impact but has also strengthened the bonds within the OCNDS community. Her journey from seeking support to leading and advocating for others is a testament to the power of connection, resilience, and hope.

From Diagnosis to Advocacy: Claire’s Story & the Power of Community

Mon, 31 Mar 2025 09:25:32 GMT

By Aryana Adeline Valle-Portela

Parent, Claire Whitehill's Journey (UK)

Claire’s journey with her youngest daughter Kirsty, who was diagnosed with OCNDS, is a testament to perseverance and the power of community. From the beginning, Claire noticed developmental delays in Kirsty, such as not walking or talking on time and difficulty eating. Born prematurely, Kirsty was referred to a pediatrician at one year old, beginning a series of tests to identify potential syndromes. Initial genetic tests revealed no answers, but Claire’s determination led to a referral to a geneticist. In 2016, Kirsty was enrolled in the 100k Genome Project, and three years later, Claire received the diagnosis of OCNDS. The news brought relief, but also uncertainty due to the condition’s rarity and lack of resources.

Kirsty’s challenges include profound learning disabilities, delayed speech, and small physical stature, leaving her developmentally behind her peers. Finding suitable educational resources has been particularly difficult, as many programs are unable to accommodate Kirsty’s unique needs. These gaps have forced Claire to become an advocate, working tirelessly to secure appropriate support for her daughter.

The CSNK2A1 Foundation became a lifeline for Claire. From the moment she discovered the foundation, she felt less isolated. She joined the parent advisory board and engaged in monthly Zoom calls with families who shared similar experiences. Through resources like blogs, webinars, and clinician videos, Claire gained practical knowledge to navigate Kirsty’s education and medical challenges. The foundation also provided invaluable strategies for developing education plans, helping Claire address systemic barriers in the UK.

Claire has taken her advocacy further, becoming the regional ambassador for the UK and serving on national health panels. She has shared her story widely, raising awareness about OCNDS and advocating for better support and research. Inspired by the foundation’s leadership and community, Claire remains dedicated to helping other families feel welcomed and supported as they navigate similar challenges.

Rare Disease Day 2025: The Power of Genomics

Mon, 24 Mar 2025 11:41:13 GMT

The keynote speech by Ashley Dalton, Parliamentary Under-Secretary of State for Public Health and Prevention, was about the launch of the England 2025 Rare Disease Action Plan.

It was a very crowded and lively event with many members of the Rare Disease community coming together to celebrate our collective achievements on the eve of Rare Disease Day.

On Rare Disease Day itself I attended ‘The power of genomics to inform and transform therapies for people with rare genetic conditions: raising awareness for Rare Disease Day’ event. This event was hosted and funded by both the NHS South East Genomic Medicine Service and the Genomics Clinical Academic Group, which includes both St. George’s University of London and St. George’s Hospital. The event was aimed largely at medical professionals and I attended as a member of the South East Genomic Medicine Service People and Communities Forum.

The medical presentations were very informative and interesting and included:

Gene Therapies and achieving cures for Sickle Cell Anaemia and Haemophilia: Are we there yet? By Prof Mickey Koh
Hypophosphatasia: the role of Enzyme replacement therapy in adults by Dr Katie Moss
New therapies for Lymphovascular disorders by Prof Sahar Mansour

This was followed by a round table discussion about the challenges in accessing and developing therapies for rare disease with patients, families and charities, including another fellow member of the Genomics England Participant Panel, Mel. I found the round table presentations uplifting and inspirational, they included:

Mel Dixon from Cure DHDDS. Mel is working to create a treatment pathway for her children’s ultra rare genetic condition
Pooja Takhar from The Tuberous Sclerosis Association is working in partnership to advance rare disease drug development and new therapies
Emma Heslop from Duchenne Muscular Dystrophy Hub is establishing a clinical trial accelerator network

Finally, NHS England shared our story on their social media channels: LinkedIn, X, Facebook and Instagram, where the combined total of their followers across all 4 platforms is 1,740,395.

It was a busy and rewarding day reminding me how grateful I am to be part of such a wonderful and supportive community.

The Power of Support & Community

Mon, 24 Mar 2025 10:25:26 GMT

Written by Aryana Adeline Valle-Portela from her interview with Jacquie Lopez

Reflecting on her journey, Jacquie described the difficult and prolonged journey to an OCNDS diagnosis for her daughter Madison Rose Solar. From the start, her daughter exhibited signs that something was different, but years passed before they received a clear answer. Each year brought new challenges, from the difficulties of finding informed clinicians to the overwhelming responsibility of daily care with limited resources. A definitive diagnosis didn’t come until age 12, leaving the family in a state of prolonged uncertainty and frustration. The absence of answers and support left them feeling isolated as they navigated the complexities of raising a child with an undiagnosed condition.

For Jacquie, the most valuable lesson learned through her journey with Madison's OCNDS diagnosis was the importance of support. The CSNK2A1 Foundation’s sense of community and unity has been a lifeline for her family. What started as a small and isolated community became a family, with members who shared their experiences and provided invaluable knowledge. This personalized support has been a blessing, allowing families to come together and navigate challenges in ways they never could have on their own. Jacquie described the foundation as a source of existential support, where every member is both knowledgeable and empathetic. Her connection with the foundation has given her the strength to continue fighting for her daughter’s future, with renewed hope for the growth of research and a potential cure for OCNDS.

Looking to the future, Jacquie is hopeful for tremendous progress in OCNDS research. She dreams of a potential cure, especially for younger generations, and hopes that with ongoing advancements in research, such as studies with mice and zebrafish—the future will bring more effective treatments, and that one day, OCNDS will no longer be as mysterious or misunderstood. As a dedicated member of the CSNK2A1 Foundation, Jacquie stays involved because she believes in the power of community and is motivated by the collective mission to improve the lives of those affected by OCNDS.

Science Snapshot – Pharmacogenomics Tests

Tue, 11 Mar 2025 07:22:17 GMT

Author: Ingrid Vallee, PharmD, PhD Student, Scripps Research, CSNK2A1 Foundation Volunteer

Edited by: Gabrielle Rushing, PhD, Chief Scientific Officer, CSNK2A1 Foundation

Note: We suggest reading our Pharmacogenomics overview blog first.

What is PGx testing?

Pharmacogenomic (PGx) tests aim to tailor drug prescriptions by improving efficacy and/or limiting adverse side effects by screening for DNA variants that could modify the body’s response to a drug. A strong association between a variant and a drug response is needed for a test to be relevant. In a previous blog, we discussed the challenges of pediatric testing and PGx due to lack of information (see: https://www.csnk2a1foundation.org/science-snapshot-pharmacogenomics ). PGx testing is a rapidly growing field and is constantly updated, thus increasing availability of testing for children and adults. Many PGx tests are already available via home tests, clinical trials, and for research purposes from both public and private initiatives. In this blog, we will review the different kinds of PGx tests available and in which contexts they can be most useful.

PGx testing aims to identify correlations between genetic variants and the way the body processes certain drugs. Many patients with rare diseases are initially diagnosed by whole genome/exome sequencing, theoretically making their entire DNA sequence readily available to interpret for any variant. For privacy purposes, current laws protect patients by preventing sharing of DNA sequencing data with unauthorized parties. As a result, somebody who already had their whole DNA sequenced may have to take a PGx test to gather specific information about how their particular gene variant may affect their response to a particular drug.

Note: many PGx tests are available for various indications. Here we focus mostly on tests relevant in pediatric diseases with neurological symptoms.

Point-of-Care versus Large panel testing

Two types of PGx testing currently exist:

Point-of-Care testing is used to determine the body’s reaction to a particular drug in order to adapt the dosage or substitute a different drug to enhance efficacy and/or limit adverse side effects. This testing is used for a specific clinical need and short-term decisions. For example, antidepressants can be processed differently by each individual, partly due to the genetic variants they carry for the gene responsible for breaking down certain antidepressants. If this drug is not adapted to the patient, PGx tests can be conducted to try to identify the cause and adapt the treatment accordingly. The test is targeted towards one gene for one drug and is informative for this specific situation.

This can also help in urgent, one-time prescription situations where the correlation between the drug and risk of adverse side effects/ dosage issue is well documented. One time testing is cheaper than larger panel testing, but costs can add up if multiple targeted tests are required. For example:

Carbamazepine is a drug that can alleviate neurological symptoms including seizures. There is a well-known hypersensitivity to this drug that can cause severe reactions in people carrying the specific variants for the HLA-B*15 gene, mostly found in populations of Asian ancestry (HLA-B*15:02 and HLA-B*15:11) ² . Getting tested for these variants before starting treatment can limit the risk of severe reaction. It can also explain severe unlisted reactions after starting the treatment.
Tramadol and other Opioid-derived drugs are prescribed as pain relievers. There is a confirmed association between CYP2D6 variants and processing speed of the drug, putting different variant carriers at different risks ^3,4 . Getting tested for variants can avoid over or underdosing.

Large panel PGx testing is a proactive approach where a large panel of variants are tested, and results are kept for future reference in patient care. Sometimes these results are stored in electronic medical records. It is most helpful for patients with chronic diseases taking multiple medications. Instead of targeting one gene/variant, the goal is to test a set of variants that are known to be associated with families of drugs given for medical indications. Note: The tests mentioned below include testing for carbamazepine interaction.

Within larger panel tests, some are to guide drug prescription, while non-therapeutic tests are for research purposes to increase PGx knowledge. (Note: Non-therapeutic clinical trials are important because they increase general knowledge in an unbiased way; linked are a few examples of ongoing programs for long-term patients in these clinics ^5–7 ). We will cover some of the tests meant to guide drug prescription. Many tests exist and selecting the right test can be done collaboratively with a health provider. Below are a few examples:

Example 1: the GeneSight Psychotropic pharmacogenomic test specifically evaluates the impact of one’s genetic signature on certain medications commonly prescribed to treat depression, anxiety, ADHD, and other mental health conditions. The goal is to help alleviate the trial-and-error process of finding the best medication while avoiding side effects for antidepressants and more. The genetic information collected from the test can give insights into dose adjustment, probable efficacy of a drug, and potential side effects ⁸ .

Example 2: the OneOme RightMed panel covers hundreds of medications to treat a wide range of medical conditions, including cancer, psychiatric conditions, chronic pain and more ⁹ .

Example 3: The Admera PGxOne Plus panel can be only ordered by healthcare providers and covers multiple therapeutic areas such as psychiatry, pain management and cardiology ¹⁰ .

Summary

References

Clinical Annotation Levels of Evidence. PharmGKB https://www.pharmgkb.org/page/clinAnnLevels.
Clinical Annotation for HLA-B*15:02, HLA-B*15:11; carbamazepine; drug reaction with eosinophilia and systemic symptoms, Epidermal Necrolysis, Toxic, Maculopapular Exanthema, severe cutaneous adverse reactions and Stevens-Johnson Syndrome (level 1A Toxicity). PharmGKB https://www.pharmgkb.org/clinicalAnnotation/981419263.
Annotation of CPIC Guideline for tramadol and CYP2D6. PharmGKB https://www.pharmgkb.org/guidelineAnnotation/PA166228101.
Dean, L. & Kane, M. Tramadol Therapy and CYP2D6 Genotype. in Medical Genetics Summaries (eds. Pratt, V. M. et al.) (National Center for Biotechnology Information (US), Bethesda (MD), 2012).
PG4KDS: Clinical Implementation of Pharmacogenetics. St. Jude Care & Treatment https://www.stjude.org/care-treatment/clinical-trials/pg4kds-pharmacogenetics.html.
Center for Individualized Medicine - Pharmacogenomics: RIGHT 10K Study. Mayo Clinic https://www.mayo.edu/research/centers-programs/center-individualized-medicine/research/clinical-studies/right-10k.
Center for Pharmacogenomics and Precision Medicine » Precision Medicine Program » UF Health » University of Florida. https://precisionmedicine.ufhealth.org/research/center-for-pharmacogenomics-and-precision-medicine/.
For Patients. GeneSight https://genesight.com/for-patients/.
Welcome to OneOme - OneOme.com. https://oneome.com/home-international/.
Admera Health PGxOneTM Plus - Clinical Genetic Test - GTR - NCBI. https://www.ncbi.nlm.nih.gov/gtr/tests/567653/.

Image created in BioRender

Research Explained: Adrenal Hypoplasia: A Diagnostic and Clinical Challenge

Thu, 06 Mar 2025 06:48:17 GMT

Authors: Sara Geraldes Paulino, Alice Porto Guerra Vasconcelos, Sofia Ferreira, Carla Costa, Rita Santos Silva, Cintia Castro-Correia

Written by: Tierney Baum, PhD, Strategic R&D Consultant

Edited by: Gabrielle Rushing, PhD, Chief Scientific Officer, CSNK2A1 Foundation

Link to Publication: https://www.cureus.com/articles/334386-adrenal-hypoplasia-a-diagnostic-and-clinical-challenge#!/

Research Explained Summary

This study presents the case of a 17-year-old male patient that had a complex diagnosis of two different rare disorders, OCNDS and congenital adrenal hyperplasia, which were initially misdiagnosed during infancy. The patient had a normal birth but quickly developed signs of adrenal insufficiency (AI), with abnormally low sodium and high potassium levels in his blood, as well as high blood acidity. AI is a potentially life-threatening condition with low secretion of specific hormones (glucocorticoid and/or mineralocorticoid) by the adrenal cortex. The patient was subsequently diagnosed with congenital adrenal hypoplasia (CAH) – a genetic disorder caused by deficiencies in various enzymes. This is the most common type of AI, accounting for about 95% of cases in children.

By 22 months of age, the patient had symptoms that did not align with a CAH diagnosis, including hyperpigmentation of the skin and mucous membranes. Genetic sequencing of the patient found no variants in the gene associated with CAH (CYP21A2); however, by 15 years of age repeat genetic testing discovered a heterozygous deletion of the entire CSNK2A1 gene and a pathogenic variant in the NROB1 gene (c.1273A>G, Arg425Gly). The CSNK2A1 deletion was found to be inherited from the patient’s father and the NROB1 variant was de novo. Due to the presence of these variants the patient was diagnosed with both OCNDS and X-linked adrenal hypoplasia congenita (OMIM #300200).

The deletion of the CSNK2A1 gene is likely the cause of the patient’s short stature, two-year delay in bone age, mild intellectual development disorder, and facial dysmorphisms including a broad nasal bride, upturned nose, and epicanthal folds. The variant in the NROB1 gene is associated with the AI and low sex hormone levels in the patient resulting in delayed onset of puberty. At 15 years of age the patient started on treatment with testosterone and steroids typically used to treat AI. By 17 years of age the patient had started puberty and had a significant increase in growth rate with no symptoms of AI.

This study highlights the complexity of diagnosing a patient that shows symptoms from multiple disorders. The clinicians in this study advocate for comprehensive clinical, biochemical, and genetic assessment for complex endocrine disorders to avoid the misdiagnosis of patients.

Science Snapshot – Biomarkers

Wed, 05 Mar 2025 06:19:01 GMT

Author: Tierney Baum, PhD, CSNK2A1 Foundation Strategic R&D Consultant

Edited by: Gabrielle Rushing, PhD, CSNK2A1 Foundation Chief Scientific Officer

Identifying new biomarkers for disease has become a bit of a buzzword in research and drug development in the last decade, but what exactly is a biomarker? A biomarker , which is a shortened form of ‘biological marker,’ is any biological molecule that is an objective measure of a biological process happening in a cell or organism at a given moment. Biomarkers help us improve our ability to monitor, diagnose, and predict disease risk. In this Science Snapshot we will explore different categories of biomarkers and how they can be beneficial in drug development and rare disease research.

What is a biomarker?

Biomarkers are typically found in blood, other body fluids, or tissues as a sign of a normal or abnormal process, or of a condition or disease. They can serve as early warning systems for your health. Some biomarkers can be measured during doctor’s visits (such as blood pressure or weight), others need to be tested in the lab (such as in blood, urine, or tissue), while other biomarkers take a closer look at our molecules and cells by analyzing genes and proteins.

The most important criteria for classification as a biomarker is if it can be measured with precision , reproducibility , and accuracy . A biomarker must be an objective and quantifiable measure. Qualified biomarkers undergo a regulatory process called the Biomarker Qualification Program to ensure they are reliable.

What types of biomarkers exist?

The FDA recognizes seven types of biomarkers: Susceptibility/risk, diagnostic, prognostic, monitoring, predictive, response, and safety. Below we provide descriptions of each type and the graphic provides specific examples.

Susceptibility/risk – predicts the likelihood that an individual will develop a particular disease or medical condition
Diagnostic – detects or confirms the presence of an existing disease or medical condition; can provide information about the characteristics of the disease
Prognostic – in patients who already are diagnosed with a disease, predicts the likelihood that a clinical event in the disease will come back or progress
Monitoring – a repeated measurement that assesses the status of a disease or condition
Predictive – helps identify individuals who may experience a favorable or unfavorable effect from a specific treatment or drug
Response – shows if a biological response has occurred in a patient after a treatment or drug
 Safety – shows if there are levels of drug toxicity in an individual

Types of Biomarkers

Susceptibility/Risk

Genetic test for mutations in BRCA1/2 genes increasing risk for breast cancer

Diagnostic

Measuring Prostate- specific Antigen to diagnose prostate cancer

Prognostic

Presence of Ki-67, a measure of cell proliferation, in breast cancer

Monitoring

Blood test to measure blood sugar levels (hA1C) in diabetes patients

Predictive

HER2-positive breast cancer tumors grow more quickly and can be harder to treat

Response

Increase in protein levels in response to gene therapy for spinal muscular atrophy

Safety

Kidney or liver function tests to measure if a drug is toxic

Biomarkers & Drug Discovery

Drug development is very challenging and resource intensive, with most clinical drug trials not making it to FDA approval. One common reason is that many diseases have highly heterogeneous patients with multiple subtypes. For example, breast cancer tumors can have high morphological (structural) and molecular diversity despite patients receiving the same diagnosis.

Biomarkers are an essential tool for identifying subpopulations of patients within a disease. By identifying biomarkers more drugs can be developed that target a specific subpopulation of a disease where they are most effective. Biomarker development helps move medicine toward personalized health care by finding the right treatment for each patient.

To date, few reliable biomarkers exist for mental disorders. One reason for this is that typical biomarker measurement requires invasive procedures such as blood or tissue collection, which would be high risk in the central nervous system (CNS). Another reason is the general complexity of the brain’s structure and function, which makes identifying relevant biological markers challenging.

Biomarkers and Rare Diseases

A major challenge of identifying biomarkers for rare diseases is that patients are few in number and geographically dispersed. It is therefore necessary for researchers to collaborate globally to advance knowledge of certain rare diseases. A successful example of international collaboration is from a study focused on identifying biomarkers for the ultra-rare disease called mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), where 20 investigators collaborated across ten countries (Mencias et al., 2021). These researchers were able to identify microRNAs as a possible biomarker that circulates in patient’s blood that could help identify patients with MNGIE.

Rare diseases can be difficult to diagnose due to the underlying biology not being well understood and/or clinicians not being familiar with the disease symptoms. Developing biomarkers for rare diseases that can be easily tested removes subjectivity and increases the accuracy of a diagnosis. Identifying reliable biomarkers can also be a way to speed up research for rare diseases because they can be used to monitor progression, prognosis, and responses to drug treatment.

References

Kraus VB. Biomarkers as drug development tools: discovery, validation, qualification and use. Nat Rev Rheumatol. 2018 Jun;14(6):354-362. doi: 10.1038/s41584-018-0005-9. PMID: 29760435.

Mencias M, Levene M, Blighe K, Bax BE, On Behalf Of The Project Group. Circulating miRNAs as Biomarkers for Mitochondrial Neuro-Gastrointestinal Encephalomyopathy. Int J Mol Sci. 2021 Apr 1;22(7):3681. doi: 10.3390/ijms22073681. PMID: 33916195; PMCID: PMC8037498.

https://www.atlasantibodies.com/knowledge-hub/blog/7-types-of-biomarkers/?language=en

https://www.fda.gov/drugs/biomarker-qualification-program/about-biomarkers-and-qualification

Project: Investigating Sleep and Circadian Dysregulation in Okur-Chung Neurodevelopmental Syndrome (OCNDS)

Mon, 03 Mar 2025 10:03:44 GMT

Lead Investigator: Vishnu Cuddapah, MD, PhD, Assistant Professor, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Baylor College of Medicine

Grant Details:

Project funded for 1 year starting in 2025 for a total of $70,025.

Aims of Grant:

Sleep and circadian rhythm disturbances are common in individuals with Okur-Chung Neurodevelopmental Syndrome (OCNDS), yet their underlying mechanisms remain poorly understood. Studying these phenotypes can provide critical insights into the role of CSNK2A1 in neurodevelopment and offer potential therapeutic targets to improve sleep-related symptoms in individuals with OCNDS.

This project aims to further characterize sleep and circadian phenotypes in individuals with OCNDS through ongoing clinically relevant questionnaires, developing Drosophila (fruit fly) models harboring 7 distinct CSNK2A1 variants to assess their impact on sleep and circadian rhythms, and screening a curated list of compounds to identify drugs that may reverse sleep and circadian phenotypes. By validating drug candidates in a high-throughput system, we aim to accelerate the path toward preclinical studies, complementing ongoing research in mouse and iPSC models. The findings will contribute to a deeper understanding of OCNDS pathophysiology and inform future therapeutic strategies.

Research Explained: A Dual Diagnosis of Okur–Chung Neurodevelopmental Syndrome and Becker Muscular Dystrophy

Mon, 17 Feb 2025 12:31:27 GMT

Research Explained: A Dual Diagnosis of Okur–Chung Neurodevelopmental Syndrome and Becker Muscular Dystrophy: Inquiry Into the Lower Limits of Neurodevelopmental Functioning Attributable to Muscular Dystrophy

Authors: Victoria Liu, Eva Hanson, Joshua W. Owens, Robert J. Hopkin, Amelle Shillington

Author: Gabrielle Rushing, PhD, CSNK2A1 Foundation Chief Scientific Officer

Edited by: Tierney Baum, PhD, Strategic R&D Consultant

Link to Publication: https://pmc.ncbi.nlm.nih.gov/articles/PMC11802274/

Research Explained Summary

A recent case study published in Brain and Behavior describes a 3-year-old male with global developmental delay, growth failure, and dysmorphic facial features. Initially, genetic testing identified a duplication within the DMD gene, typically associated with Becker Muscular Dystrophy (BMD). Muscular dystrophies are disorders that cause progressive weakness and degeneration of skeletal muscle. However, the child’s significant neurodevelopmental impairments exceeded what is usually observed in BMD, prompting further genetic analysis. Whole-exome sequencing revealed a heterozygous CSNK2A1 variant, c.593A>G (p. Lys198Arg also referred to as K198R), confirming a dual diagnosis of Okur–Chung Neurodevelopmental Syndrome (OCNDS) alongside BMD.

OCNDS is an autosomal dominant disorder caused by pathogenic variants in CSNK2A1, which encodes the αlpha1 catalytic subunit of protein kinase CK2, an essential enzyme involved in neural development, regulating gene expression, and cell signaling. The identified K198R variant affects a key lysine residue known to be crucial for the stability and function of the CK2 protein. Changes to CK2’s protein function within humans caused by the K198R variant is currently not fully understood.

Researchers found that the patient’s IQ scores were significantly lower than typically found with only a BMD diagnosis, prompting further investigation into other contributing factors. They conclude that unexplained symptoms in similar patients should prompt further diagnostic workup. This case underscores the importance of considering dual diagnoses in patients with neuromuscular conditions who present with unexpected neurodevelopmental challenges. The combination of BMD and OCNDS in this patient highlights the need for comprehensive genetic testing when a single diagnosis does not fully explain the clinical presentation. The findings also contribute to the growing understanding of CSNK2A1 variants, emphasizing the necessity for further research into the molecular and functional consequences of specific mutations, including K198R, to refine genotype-phenotype correlations and improve clinical management.

Rare, Resilient, Radiant: A Tribute to Harper and Rare Disease Day 2025

Sun, 16 Feb 2025 15:54:39 GMT

By Amber Reynolds

Today, we celebrate and honor all the incredible individuals living with rare diseases, including our amazing Harper. 

Harper was born with an ultra-rare syndrome, Okur-Chung Neurodevelopmental Syndrome (OCNDS) . She is 1 in 300 in the world diagnosed with this condition—a true gem among us. But what makes her truly rare goes far beyond her diagnosis.

Harper is a light in this world, seeing life through her own beautiful, rose-colored glasses. She is pure joy wrapped in sass and smiles. Harper doesn’t just live life—she embraces it with courage and a spirit for adventure:

She skis with fearless determination.
She’s always on the move—never sitting down, ready to conquer whatever comes next.
She loves her friends deeply, sharing moments of laughter and connection.
Baths? They’re her ultimate happy place!
She is empathetic, athletic, and absolutely unstoppable.

Harper doesn’t watch TV or movies—she’s too busy soaking in life and showing the world what true happiness looks like. Her energy, love, and unstoppable spirit remind us every day that rare is beautiful.  

To Harper and the entire rare disease community: today, we see you, honor you, and stand with you.

#RareDiseaseDay #OCNDS  #RareIsBeautiful 

Beyond the Diagnosis: Finding Hope and Miracles in Everyday Moments

Sun, 16 Feb 2025 15:47:25 GMT

Rare Disease Day 2025

By Keri Ninness

Our beloved boy with a rare disease will be 13 this year. It’s been 9 years since I fell to the floor of our preschool bathroom during a call from Emory genetics. That first mystery was solved, yet so many lay lurking, usually presenting right when we feel we have a good handle on things.

Those early years were consumed with accessing every therapy and resource available. We spent hours in the car each week and tens of thousands of dollars on doctors, specialists, physical, occupational, speech, and behavioral therapy. Thomas’s younger siblings learned to crawl on therapy waiting room floors.

After 11 years, Thomas has graduated from all therapies. He defied what that first (unkind, pessimistic, short sighted…) developmental pediatrician predicted. He did, in fact, learn to walk, talk, jump, learn. And he did so much more.

Thomas learned to ride a bike. He learned to swim. He learned to run and play flag football and basketball and frisbee golf. He learned to play ping pong and memorize Spanish vocabulary words and knows every part and detail of the Mass in our Catholic faith. He just made A/B honor roll in 6th grade. He has made friends who knock on our door for him to play and knows more about college football and major league baseball than most adults.

Those who walk alongside our family know that he has very, very hard days. Out of respect for him, I won’t elaborate on what hard looks like. But suffice it to say, it is a hard that no one would ever wish for their child or their family. He suffers. We suffer. Rare disease is unrelenting, unpredictable. Many days it is undeniable agony.

And yet. If choosing Thomas means choosing Okur-Chung Neurodevelopmental Syndrome, we choose it every, single minute. He asked me one day if I wished he didn’t have OCNDS and was surprised when I said I did not wish this hard, hard disease away. Because the day I saw that child learn to swim after YEARS of him playing on the side of the pool while his same age peers played sharks and minnows in the deep end? That day I watched a miracle. And the day he finally stepped off the curb of First Presbyterian Weekday school after insisting on practicing every day for years? another miracle. And watching him walk across a stage today earning honor roll in 6th grade- two of those grades being in honors level classes? Miracle. People go lifetimes never having the honor and privilege to witness even one. Our family watches them over and over and over again.

These precious, innocent, wanted, valued, beloved children miraculously climb invisible mountains every day. To the families and caregivers, maybe your miracle was a first word after years of speech therapy. Maybe it was your child making their first real friend. Maybe it was a day without horrible dysregulation or a medical event. Maybe it was the look in their eyes as you put them to sleep that let you know they see all your work and all your fears and all your silently shed tears. There is so much hard to navigating life for and with a child with rare disease. But there are also constant miracles, glimmers of hope and joy. Noticing those, honoring those, will be the fuel you need to help your babe and your family climb that next mountain. You are doing SUCH a good work fighting for them, with them, and yes, sometimes even against them. Your child is a miracle, but so are you.

To the doctors and scientists studying the CSNK2A1 gene, thank you for using your gifts to help our son. Please keep learning.  To the members of the CSNK2A1 foundation, we are endlessly grateful for your tireless commitment and perseverance in this fight. To the PTs, OTs, SLPs, special education teachers and mainstream teachers who put in extra work for our son, you are the real heroes in our story. To Mary Kate, Timothy, Elizabeth and Baby David, your love for your brother and resulting compassion for others is my life’s joy to see. To Ross, your constant pursuit of your son’s heart is your most attractive quality. And to Thomas. OCNDS is a miniscule part of you. We acknowledge it on rare disease day and will treat you to chick-fil-a fries. But then we go back to living life. You’ll take out the recycling and read your brother a bedtime story and bore us at the dinner table with stats on University of South Carolina defensive ends. Besides wanting you to put your 18th pair of crocs in the actual shoe bin, we don’t wish for a single thing different. Our life with you is a gift and a joy. Thank you for fighting battles we can’t even see every day. You are a miracle.

Science Snapshot - CBD treatment for epilepsy

Mon, 10 Feb 2025 05:22:26 GMT

Author: Tierney Baum, PhD, Strategic R&D Consultant

Editor: Gabrielle Rushing, PhD, Chief Scientific Officer

The last decade has seen a surge in the use of cannabis-derived products for the treatment of everything from aches and pains to anxiety and even heart issues. One such use is taking cannabidiol (CBD) to help improve seizure severity in individuals with epilepsy and other seizure disorders. A growing cultural and political acceptance in the United States has made these products easier to acquire and has increased their widespread use. However, there still lacks sufficient clear, quantitative data to help potential users understand how cannabis products might be used for different disorders.

In this Science Snapshot we will dive into what CBD is and current clinical evidence for its use in children with neurodevelopmental disorders.

Cannabis Terms Explained

Cannabis for Pediatric Epilepsy

Though there is currently little information on the effects of CBD for OCNDS patients, there are several published studies in patients with other neurodevelopmental disorders with seizure activity.

In a 2017 study of patients with Dravet syndrome, 43% of individuals had a 50% reduction in monthly seizures after daily CBD administration (Devinsky et al., 2017). In a similar 2018 study, researchers reported a 41.9% reduction in atonic seizures in patients with Lenox-Gastaut Syndrome (LGS) treated with daily CBD for the treatment period (Thiele et al., 2018). The results of these studies led to FDA approval of prescription CBD, called Epidiolex, in 2018 for patients with Dravet syndrome, LGS, and Tuberous Sclerosis Complex patients over one year of age. Epidiolex is a CBD-only medication with no THC (Abu-Sawwa et. al, 2020).

A systematic review published in 2018 of 17 clinical trials of CBD treatment in children with epilepsy found that overall CBD treatment was more effective than placebo. In these trials CBD treatment resulted in 48.7% of patients having a 50% reduction in seizures. There were also few adverse events reported in these trials (2.2% of patients) (Stockings et al., 2018). An adverse event is considered an unfavorable or unintended symptom from taking the study treatment; more details on possible side effects from CBD treatment in children are listed in the next section.

Placebo is often a sugar pill, water or saline injection, or something similar that is meant to have no medical effect in a patient. A placebo is used in a study because it is well documented that it is possible for a patient's symptoms to improve after only taking placebo; this is known as the placebo effect . It is not fully understood what causes the placebo effect, but including a placebo in study design is important to understand the true effects of the medical treatment.

Though these reports are very promising, there are a couple of important considerations. Firstly, in the studies on Dravet and LGS, there were significant placebo effects on untreated patients. It is therefore difficult to conclude how effective CBD treatment alone was in these studies. Furthermore, patients in all studies mentioned received pharmaceutical grade CBD, which is highly pure and difficult to acquire outside of clinical research.

Risks and Other Considerations

Most of the CBD products available to consumers come in the form of extracts or artisanal products with the following concerns:

High variability in CBD purity even from the same supplier
Possible THC contaminants (most products are found to have some THC)
Poor regulation

These issues create roadblocks for new research studying the effects of over-the-counter CBD products in children with neurodevelopmental disorders. However, studies conducted using these products on children still suggest an overall improvement in seizure activity (Tzadok et al.,2016; Huntsman et al., 2020).

Some studies have reported the following possible side effects/risks in using these products:

Potential THC intoxication (with possible developmental risks)
High rates of mild side effects
Sleepiness, nausea, diarrhea, fatigue, decreased appetite
Rare but serious side effects
Increased liver enzymes, blood dyscrasias (disease that affects the blood, bone marrow, or lymph tissue, e.g., anemia), and worsened seizures

The Takeaway Message

While studies using both pharmaceutical-grade and over-the-counter CBD show overall promising results, parents are encouraged to consult with their doctor to ensure safe and informed use of these products. There are still many questions about dosage, effects on different seizure types, long term adverse effects, and other cannabinoid contaminants in each product.

Currently, CBD is shown to be likely effective in treating seizures in children but not necessarily more effective than conventional anti-seizure medications. Overall, the potential developmental risks to using CBD products should be weighed against the potential developmental harm of chronic seizures in these children (particularly in children who do not respond to anti-seizure medications).

More studies are needed to fully understand the effects of cannabinoids on children and no studies have been conducted to date on children with OCNDS and seizures. Anecdotally, the foundation has had 2 families report using this medication.

In 2022, President Biden signed the Medical Marijuana and Cannabidiol Research Expansion Act into law. This law will continue to make it easier to conduct medical research on cannabis in the US. This law also makes it easier for doctors to discuss the benefits and risks with patients without violating the Controlled Substances Act.

* A Schedule 1 substance is a category of drugs that the U.S. government has classified as having a high potential for abuse, no currently accepted medical use in treatment, and a lack of accepted safety for use under medical supervision. This classification is part of the Controlled Substances Act, which regulates certain drugs and chemicals. Examples of Schedule 1 substances include heroin, LSD, and ecstasy. Because of this classification, these substances are illegal to manufacture, possess, or distribute in the United States, except for very limited research purposes with special permission from the government. The conflict between state and federal law arises because drug classification under federal law is slow to change, often due to political, regulatory, and societal factors. States, however, have been quicker to adapt to changing public attitudes toward cannabis, recognizing both its potential medical benefits and its economic advantages through taxation and regulation.

References

Abu-Sawwa R, Stehling C. Epidiolex (Cannabidiol) Primer: Frequently Asked Questions for Patients and Caregivers. J Pediatr Pharmacol Ther. 2020 Jan-Feb;25(1):75-77. doi: 10.5863/1551-6776-25.1.75. PMID: 31897080; PMCID: PMC6938286.

Devinsky O, Cross JH, Laux L, Marsh E, et al. Trial of cannabidiol for drug-resistant seizures in the Dravet syndrome. N Engl J Med 2017;376:2011–2020.

Huntsman, Richard J.*; Tang-Wai, Richard†; Shackelford, Alan E.‡. Cannabis for Pediatric Epilepsy. Journal of Clinical Neurophysiology 37(1):p 2-8, January 2020. | DOI: 10.1097/WNP.0000000000000641

Stockings E, Zagic D, Campbell G, et al. Evidence for cannabis and cannabinoids for epilepsy: a systematic review of controlled and observational evidence. J Neurol Neurosurg Psychiatry 2018;89:741–753.

Thiele EA, Marsh ED, French JA, Mazurkiewicz-Beldzinska M, et al. Cannabidiol in patients with seizures associated with Lennox-Gastaut Syndrome (GWPCARE4): a randomized, double blind, placebo controlled phase 3 trial. Lancet 2018;391:1085–1096.

Tzadok M, Uliel-Siboni S, Linder I, et al. CBD enriched medical cannabis for intractable pediatric epilepsy: the current Israeli experience. Seizure 2016;35:41–44.

Source: <a href="https://www.flaticon.com/free-icons/cannabidiol" title="cannabidiol icons">Cannabidiol icons created by bsd - Flaticon</a>

Research Explained: Phenotypic effects of genetic variants associated with autism

Sun, 09 Feb 2025 17:30:30 GMT

Research Explained: Phenotypic effects of genetic variants associated with autism

Authors: Thomas Rolland, Freddy Cliquet, Richard J. L. Anney, Clara Moreau, Nicolas Traut, Alexandre Mathieu, Guillaume Huguet, Jinjie Duan, Varun Warrier, Swan Portalier, Louise Dry, Claire S. Leblond, Elise Douard, Frédérique Amsellem, Simon Malesys, Anna Maruani, Roberto Toro, Anders D. Børglum, Jakob Grove, Simon Baron-Cohen, Alan Packer, Wendy K. Chung, Sébastien Jacquemont, Richard Delorme & Thomas Bourgeron

Written by: Gabrielle Rushing, PhD, Chief Scientific Officer, CSNK2A1 Foundation

Link to paper: Rolland, T., Cliquet, F., Anney, R.J.L. et al. Phenotypic effects of genetic variants associated with autism. Nat Med 29 , 1671–1680 (2023). https://doi.org/10.1038/s41591-023-02408-2

[LINK TO: https://www.nature.com/articles/s41591-023-02408-2 ]

Research Explained Summary

This study looked at how certain genetic changes linked to autism might affect thinking skills, education, and life outcomes. The researchers found that people who carry these genetic variants tend to have slightly lower problem-solving abilities, are less likely to complete higher levels of education, and may earn less money on average. They were also more likely to receive disability benefits, suggesting these genetic factors can have a broader impact beyond autism itself.

This study doesn’t mean that everyone with these genetic changes will experience these challenges, but it highlights how genes can shape different aspects of life. Understanding these connections can help researchers and doctors better support individuals with autism and related traits, while also challenging stereotypes—many people with autism have unique strengths that aren't captured by traditional measures of intelligence or success.

What did the study find related to OCNDS?

OCNDS is caused by variants in the CSNK2A1 gene. The study included the CSNK2A1 gene as one of the autism-associated genes analyzed for rare loss-of-function (LoF) variants. Here are the key findings related to CSNK2A1:

CSNK2A1 was identified among genes carrying rare variants that are more frequent in individuals with autism compared to undiagnosed individuals.

The study estimated an autism odds ratio (OR) for CSNK2A1, which quantifies how strongly the variants in this gene are associated with autism.

What is an odds ratio? An odds ratio is a way of comparing how likely something is to happen in one group versus another. If the odds ratio is greater than 1, it means the event is more likely in the first group; if it's less than 1, the event is less likely in that group.

CSNK2A1 had an odds ratio (OR) of ~20.

An odds ratio (OR) of ~20 means that individuals who have a LoF mutation in the CSNK2A1 gene are 20 times more likely to be diagnosed with autism compared to individuals who do not have a mutation in this gene.

The study showed that genes linked to synaptic function and transcription regulation , including CSNK2A1, tend to have higher autism ORs.

Project: Deciphering perturbations of primary cilia in Okur-Chung neurodevelopmental disorder

Fri, 07 Feb 2025 03:08:22 GMT

Lead Investigator: Abdelhalim Loukil, PhD, Sanford Research Institute

Grant Details:

Project funded for 1 year starting in 2025 for a total of $60,013. This grant was funded in collaboration with the Orphan Disease Center at the University of Pennsylvania Perelman School of Medicine's Million Dollar Bike Ride . The CSNK2A1 Foundation raised $30,013 and the Orphan Disease Center contributed a $30,000 match.

Aims of Grant:

The proposed project aims to investigate how mutations in the Csnk2a1 gene contribute to a rare genetic disorder called OCNDS, which causes speech difficulties, motor impairments, and cognitive issues. We will look at how these mutations affect the function of primary cilia, which are tiny hair-like structures in cells that play an important role in cell communication and brain development. By studying both mouse models and patient cells, we will identify the specific molecular changes in cilia caused by the gene mutation and their effects on brain development. This proposal will help us better understand how ciliary malfunction contributes to developmental difficulties in OCNDS. Additionally, we hope to uncover novel therapeutic targets by identifying the molecular pathways affected by the mutation. Our ultimate goal is to provide insights that could lead to potential treatments for the neurological challenges seen in OCNDS.

Project: Leveraging a Knowledgebase to Enhance Diagnosis, Treatment, and Global Collaboration for OCNDS

Wed, 05 Feb 2025 04:01:53 GMT

Lead Investigator: Dennis Lal, PhD, UT Southwestern

Grant Details:

Project funded for 1 year starting in 2025 for a total of $67,593.

Aims of Grant:

This project aims to develop a centralized knowledgebase to advance the diagnosis, treatment, and care of CSNK2A1 disorders, including Okur-Chung Neurodevelopmental Syndrome (OCNDS). By aggregating and integrating genetic and clinical data, the knowledgebase will serve as a vital resource for researchers, clinicians, and families, offering tools for precision medicine, insights into genotype-phenotype correlations, and personalized treatment recommendations. It will also establish a collaborative platform to share best practices and treatment outcomes globally. The knowledgebase will include a comprehensive repository of genetic variants and clinical data (from Simons Searchlight), include tools to facilitate genotype-phenotype analyses, and establish a collaborative platform for data sharing and best practices for researchers.

Science Snapshot - The Basics of Clinical Trials

Wed, 05 Feb 2025 03:21:21 GMT

Author: Tierney Baum, PhD, CSNK2A1 Foundation Strategic R&D Consultant

Edited by: Gabrielle Rushing, PhD, CSNK2A1 Foundation Chief Scientific Officer

A clinical trial is a lengthy process of testing out new treatments or devices to see how safe and effective they are in humans. They follow strict protocols and are conducted in phases, starting with small groups assessing safety and expanding to larger populations to determine how well the treatment works.

All drugs and medical treatments that we use have been through the rigor of clinical trials so they could eventually become approved by the Food and Drug Administration (FDA) to be used on patients for specific purposes (e.g., to treat a specific symptom or disorder). Before treatments become approved, there is a long path starting in non-human or ‘preclinical’ models; if these studies are successful, then they can move on to the multiple stages of clinical trials. In this Science Snapshot we will be breaking down these steps so you can understand how a treatment goes from an idea to reality.

Preclinical Studies

Preclinical studies are research experiments conducted in laboratories to test the safety, effectiveness, and biological activity of new drugs or treatments before they are tested on humans. These studies help scientists understand potential risks and benefits, guiding the development of therapies for human clinical trials. Before a treatment is ever considered to be used in a human it needs to be tested in animal models. These studies are most often designed using mice, which helps us understand their in vivo effects, or in vitro using human cells to help us understand biological effects.

In vivo – a process that takes places inside a living organism

In vitro – a process that takes place outside a living organism in a test tube, culture dish, etc.

These studies often help researchers understand how a treatment works rather than just its safety and overall effects. If there are favorable results in these studies, researchers can submit an Investigational New Drug (IND) application to the FDA to request permission to conduct clinical trials.

Clinical Trial Stages

This outline describes the process for a standard clinical trial process. A future science snapshot will address clinical trials for rare disorders.

Phase I Trial – drug or treatment is tested in a small group (~20-80 people) for the first time. The purpose is to study the drug or treatment to learn about its safety and identify any side effects.
Usually last several months; 70% chance of moving on to Phase II

Phase II Trial – drug or treatment given to a larger group of people (~100 – 300 people) to further understand its safety and effectiveness.
Usually last several months to 2 years; 33% chance of moving on to Phase III

Phase III Trial – drug or treatment given to large group of people (~1000-3000 people) to further confirm its effectiveness, monitor side effects, and compare to other current treatments.
Usually last 1-4 years; 25-30% chance of moving on to FDA approval

Clinical Trial Design

To ensure a clinical trial is unbiased and effective, a lot of time is spent on study design. Bias in a clinical trial happens when the study is designed or conducted in a way that unfairly favors one outcome over another. This can make the results misleading and could put patients at risk. Unbiased means being fair and impartial, without letting personal opinions, feelings, or preferences influence decisions or outcomes. It involves evaluating facts and evidence objectively, ensuring that judgments or actions are not swayed by prejudice or preconceived notions.

For example, if a trial only includes certain types of people, like those who are healthier or younger, the results might not apply to everyone. Similarly, if researchers know who is getting the treatment and who isn’t, they might (even unintentionally) influence the results based on their expectations.

The following terms outline some essential parts of unbiased study design:

Placebo – an inactive treatment that resembles the test treatment (sugar pills, saline injection, etc.). It can be the fastest and most reliable way to show a new treatment’s effectiveness.

Randomization - the process by which treatments are assigned to a patient group by chance or randomly. This helps avoid bias in selecting which patients receive a specific treatment.

Blinding (or masking) – a study designed such that either researchers and/or participants are not aware of the specific treatment that the participants are receiving. This helps avoid bias during the collection of scientific data, ensuring it is accurate and not influenced by the patients or research team. When both researchers and participants are unaware it is called ‘ double-blinded’ .

Inclusion/Exclusion Criteria - metrics that help determine if a patient is suitable for a study. These may include age, biological sex, stage of disease, treatment history, medications, and other medical conditions.

Study protocol – the study plan outlining the following:

Who qualifies
How long the study will last
How many people will participate
What type of controls exist to limit bias
How the drug is given and at what dose
What assessments will be given
What type of data will be collected and when
How the data is reviewed and analyzed
Which measure is considered the primary outcome measure*
What type of compensation (if any) that participants will receive
What plans are in place if something goes wrong

*The choice of outcome measure in a clinical trial is important. The primary outcome measure in a clinical trial is the main result that researchers focus on to determine if the treatment being studied is effective. It’s a specific, clearly defined goal that helps evaluate how well the treatment works. The primary outcome measure is chosen before the trial begins, during the planning phase, to ensure the study is focused and unbiased. Researchers select it carefully based on what is most important to understand about the treatment and its potential impact on patients.

For example, in a trial for a new cancer drug, the primary outcome might be whether the drug increases survival rates or reduces tumor size. This measure is important because it drives the entire study design, including how many participants are needed and how long the trial will last. A well-chosen primary outcome ensures the study answers the most important question about the treatment, providing clear and reliable information for doctors, patients, and regulatory agencies (e.g., FDA).

FDA Approval

Once a clinical trial is concluded, researchers will examine the data collected and decide whether the drug should move forward. If a treatment has proceeded through all stages with positive results and low risk to patients, they can submit a New Drug Application (NDA) to the FDA.

An unbiased team of experts reviews the data from the trials and determines if the study evidence shows that the drug is safe and effective. In these reviews the committee will often weigh risks against benefits, as well as the current available treatments and how this treatment improves options for the greater patient community. For example, if no other treatment options exist or if the disease is life-threatening, the FDA may be more inclined to approve the treatment. From start to possible approval, clinical trials often take around 6 years to complete. The overall success rate for clinical trials is low, with only 7.9% of trials reaching FDA approval. This means that over 90% of clinical trials fail, which represents a large financial burden and risk for pharmaceutical companies. Stay tuned for our next Science Snapshot focused on rare disease clinical trials!

Reference used for graphic:

FDA. Step 3: Clinical Research. U.S. Food and Drug Administration. Published January 4, 2018. https://www.fda.gov/patients/drug-development-process/step-3-clinical-research‌

Better Together

Wed, 22 Jan 2025 16:39:08 GMT

As an early childhood special education teacher, I took a college course last year to increase my knowledge and improve my teaching skills and strategies. Throughout the course, I have been reading a book titled “An Introduction to Young Children With Special Needs: Birth through Age Eight” by Richard M. Gargiulo and Jennifer L. Kilgo (2019). While reading this book, I came across a section in chapter 3 about family-centered approaches to early childhood education. One part that particularly stood out to me is as follows,

“Families of young children with delays or disabilities in the 21st century remain an instrumental force in moving the field of early childhood special education forward. Many parents are involved in professional and parent organizations and provide support to other families. Families have a strong voice in advocating for legislation and service for their children and other children and families.” (p. 59)

After reading this, my mind instantly thought about the CSNK2A1 Foundation that focuses on finding a cure for Okur-Chung Neurodevelopmental Syndrome (OCNDS) and the effect families, medical professionals, and teams of individuals have on bringing awareness to this rare syndrome. Because OCNDS affects individuals and families in countries throughout the world, it is essential to work together. For six years, our family was not able to find a diagnosis for our son and his delays. Professionals that worked with him kept telling us to continue what we were doing (OT, PT, speech, and vision therapy) because we would still need to do all of that even if we had a diagnosis. In 2016, Dr. Okur and Dr Chung used their knowledge and skills to discover OCNDS. Although we did not receive Cam’s diagnosis until 2019, we are grateful to them for using their knowledge, skills, and experience to discover OCNDS and also for their constant research of the syndrome. We are incredibly grateful to Jennifer Sills, founder of the CSNK2A1 Foundation, for consistently working tirelessly to bring knowledge and information to families in need, all while meeting her own child’s needs. She is a strong and incredible advocate and voice to bring about awareness in our own states, provinces, and countries, and using our voice to encourage legislatures to bring about policies that will benefit children with rare syndromes.

From attending the CSNK2A1 Foundation bi-monthly family calls and parent advisory board Zoom calls, I have met many incredible families who navigate life's physical and emotional challenges that come from raising a child with a rare syndrome(s). Each parent, guardian, and caretaker truly has a strong voice and advocates not only for their own child, but for children with delays and disabilities. Many of them use their time to raise awareness by having monuments light up on OCNDS Awareness Day. Despite our cultural differences, language barriers, family dynamics, and other differences and backgrounds, families, medical and education professionals, and scientists truly work better together when we use our collective “voice” to raise awareness and bring about changes, policies, and research that affects children and young adults with OCNDS. As we collaborate with each other and other organizations, many individuals with delays and/or disabilities will benefit and grow. While living within our own spheres of influence and communities, parents and families will continue to advocate for their child to receive the support and resources that will help their child(ren) grow and develop, and overcome obstacles and challenges that are in their life. In the 21st century, families and professionals truly are an instrumental force in helping each other become better, move forward together, and bring about changes and positive progress for those who are rare! Each individual is special in their unique way!

Monday Milestones

Wed, 22 Jan 2025 15:43:00 GMT

When our last son, Cam, was born, we knew our family was complete. He was an easygoing little guy and slept through the night at 3 months old (such a blessing!). When Cam was around 1 year old, Cam had his well-check visit. At this visit, our pediatrician noticed his eyes were not tracking. From that point on, our lives became filled with worry, concern, therapy sessions, and specialists appointments. Nobody could explain to us why he had these delays, just that he had them. As a mom, although professionals told me differently, I was filled with guilt that I did something wrong or that I could have prevented it.

Cam did not walk until he was around 2 years old and even at that time, he had to wear specially made orthotics and use a toddler-size walker to attempt to walk. After we moved to Macau, China S.A.R., we found incredible therapists (PT, OT, speech, and vision), specialists, and teachers in Macau and Hong Kong who supported Cam with his growth and development. Although Cam has a passion for sports, we did not think he would ever be able to participate in sports like his older brothers, especially American football and basketball. Fast forward to now, and after years of therapy and finally a diagnosis in 2019 of Okur-Chung Neurodevelopmental Syndrome (OCNDS), he participates in sports and no one would ever know he had these physical delays.

For the past two years, he reached a milestone and has been attending middle school. One day, out of the blue, Cam came to me and told me he was going to try out for the school basketball team. In my mind I was thinking “ok, but you probably won’t make it”, but he was determined to try. Thanks to an incredible coach who recognized Cam’s ambition and desire, he was put on the team. During games, when the team was far ahead, Cam was put in the game. There were a couple of times he would start to shoot and the entire team would continue to pass the ball to him and let him shoot until he made it. Even the kids on the other team and referees noticed what they were doing and stood back. After he made a basket, all the students and parents in the bleachers erupted with cheering and clapping. These were amazing and special moments! During this past year, Cam was also chosen as “Student of the Month” from his Specific Learning Disability (SLD) teacher and received straight “O’s” for outstanding citizenship. We are so proud of him and his perseverance and diligent efforts and hope it continues into his next school year. Update: this current school year, Cam is on the basketball team again. Unlike last year, when Cam is in the court now, his coach expects him to try his hardest to play. Nobody gives him “free” shots anymore. At his first game, he made 2 shots while being guarded by the players on the other team.

As a parent, these past two school years has made all the hours of therapy, monthly ferry trips from Macau to Hong Kong and vice versa, and constant worry completely worth it. We are so grateful for a community that is inclusive and sees a child’s potential and who they truly are. In moments of despair, we as parents can be concerned and full of worry, but I know as we strongly advocate for our “rare” children, those living with disabilities, and early intervention, amazing things will happen and these unique individuals will become more than we, or others, thought they could ever become. They will give others, even middle school, pre-teen/teenage boys, opportunities to develop compassion, kindness, understanding, respect, and inclusiveness.

Each of our “rare” children’s future is so bright!!

Science Snapshot - Pharmacogenomics

Fri, 10 Jan 2025 14:25:07 GMT

Author: Ingrid Vallee, PhD student, Scripps Research

Introduction

Pharmacogenomics (PGx) is the study of how the gene sequence of a particular individual influences their response to drugs. This is part of an ongoing effort called precision medicine aiming to limit drug side effects, increase efficacy, and adapt treatments to each patient to the best of our abilities.

Although 99.9% of the human genome is identical in humans, the remaining 0.1% varies amongst individuals equating to roughly 3-4 million “letter” or base pairs scattered throughout the genome, contributing to defining the differences between individuals. Some of these variations do not cause diseases but can affect how the body reacts to certain drugs. For example, most of the drugs taken orally (through the mouth) are digested through the liver where enzymes break down and metabolize (process) these drugs before they enter the bloodstream to reach their targets. These liver enzymes are reported to have different efficacies in metabolizing certain drugs depending on the variant carried by an individual on the gene coding for the enzyme. Using PGx, we can sequence one’s genome to identify these variants and predict how well this individual will metabolize certain drugs. Different drugs can be metabolized by different enzymes, meaning that a variant in one enzyme metabolizing one specific drug may not influence another drug metabolized by a different enzyme.

Individuals can carry different genetic variants of a given enzyme, which influence how the enzyme metabolizes certain drugs. These genetic differences can lead to variations in the speed of drug metabolism. For example, someone with a "slow" enzyme variant is classified as a "poor metabolizer," while someone with a "fast" variant is considered a "rapid metabolizer." Depending on the drug's mechanism of action, both scenarios can result in adverse outcomes, such as an increased risk of side effects or improper dosing (either too high or too low). Identifying these genetic variants enables personalized adjustments to drug dosage, minimizing risks and optimizing therapeutic outcomes.

PGx relies on previously conducted studies to establish recommendations. Evidence of genomic variations related to drug metabolism was compiled using different studies including clinical trials, real world evidence, meta-analyses and more. From these studies, evidence arose that some variations could lead to different metabolism of drugs by different people. PGx databases (see links below) combine these results for health professionals to make recommendations based on these studies.

PGx and drug prescription

PGx can influence drug prescription in three major ways:

limiting adverse drug reaction: a person metabolizing drugs more slowly could have an increase of the drug in the system, contributing to involuntary increase in dosage at which unwanted side effects appear without an increase in drug efficacy. PGx could identify variants that lead to this slower metabolism and help adapt dosage.
adjusting dosage: people can metabolize at different levels of efficiency. A fast metabolizer will clear the drug more quickly, potentially leading to underdosing. A slow metabolizer may eliminate the drug more slowly, increasing the risk of overdosing at the same initial dosage.
inform drug selection: Different drugs used for the same indication may be metabolized differently in individuals due to various factors, including genetics. Identifying genetic variants that influence drug response can help guide the selection of one drug over another for optimal treatment outcomes.

PGx in practice

As DNA sequencing becomes cheaper and more routinely available, so does genetic testing for PGx purposes. The best way to identify variants is by sequencing, whether it is whole genome or targeted gene sequencing. Many tests exist, aimed to test different fields of medicine such as oncology, pain management, cardiology and more. One of the most prevalent category tests for variants influencing psychiatry where tolerance to drugs and side effects can vary greatly from one individual to another. Different tests that are available will be discussed in more detail in another blog.

Text Infographic:

DNA collection and sequencing
Comparison to database and existing data
Therapeutic optimization

Limitations

Multiple factors can influence how a drug is processed by the body, such as co-morbidities (two or more medical conditions in a patient), drug/food/supplement intake, external environment and more. Genetic marking, although contributing to defining each individual’s relationship to a drug, does not take into account all these other factors. Two people carrying the same variant with two completely different lifestyles may metabolize drugs differently than predicted due to differences in the types of food consumed that may interact with the same enzymes processing the drug. OTC (over the counter, no prescription required) drugs, supplements, and change in diet can induce changes in drug processing. As such, it is essential to keep track and inform health professionals of these changes. For example, grapefruit is known to slow down certain liver enzymes regardless of genetics.

PGx recommendations are based on a combination of data generated by multiple sources, including clinical studies. Most of these studies include adults; children tend to be excluded due to ethical, scientific, and practical considerations. Children and adults metabolize drugs differently and the PGx recommendations in adults cannot always be applied to children. As precision medicine becomes more popular, the hope is that more studies involving children will be conducted safely.

Resources

Official databases gathering data about drugs and the associated gene are available to consult by health professionals, including for pediatric use.

FDA table of Pharmacogenetic Associations
Pharmacogenomics Knowledge Base (NIH funded)
https://www.pharmgkb.org/
https://www.pharmgkb.org/pediatric/dashboard
Clinical Pharmacogenetics Implementation Consortium

Sources

Illustrations created in BioRender

CDC: https://www.cdc.gov/genomics-and-health/pharmacogenomics/index.html?CDC_AA_refVal=https%3A%2F%2Fwww.cdc.gov%2Fgenomics-and-health%2Fabout%2Fpharmacogenetics.html

MedlinePlus: https://medlineplus.gov/genetics/understanding/genomicresearch/pharmacogenomics/#:~:text=Pharmacogenomics%20is%20the%20study%20of,on%20a%20person's%20genetic%20makeup

PGx in children:

https://pmc.ncbi.nlm.nih.gov/articles/PMC8259917/

https://pmc.ncbi.nlm.nih.gov/articles/PMC9544158/

Precision Health and PGx Podcast:

https://podcasts.apple.com/us/podcast/precision-health-and-pgx-podcast/id1496611877

A Year In Review: Highlights of 2024

Fri, 10 Jan 2025 06:37:52 GMT

FOUNDATION OVERVIEW

OCNDS Discovered : 2016 | Foundation Established : 2018
Mission : Focused on finding a cure for Okur-Chung Neurodevelopmental Syndrome and ensuring affected individuals have the opportunities and supports necessary for happy and full lives.
Hallmark Symptoms : Speech delay or inability to speak, global developmental delay, intellectual disability, autism spectrum disorder traits, postnatal short stature, brain MRI abnormalities, hypotonia, seizures, and sleep issues.
OCNDS affected every patient differently. The symptoms range from mild to severe.
Global Reach : 291 families registered with the foundation (+73) spanning 42 countries (+8) and 25 languages (+3).
All (+) are increases since December 2023
6 Key Focus Areas : Research, Advocacy, Awareness, Fundraising, Family Support, and Capacity Building.

RESEARCH.

Research is the cornerstone of advancing understanding, treatment, and, ultimately, a cure for OCNDS. Supporting scientific studies and data collection helps uncover the mechanisms of the condition and identify therapeutic opportunities.

SIMONS SEARCHLIGHT – this is our natural history study through the Simons Foundation Autism Research Initiative . They collect family, medical, developmental, and behavioral information. Information is synthesized and results are provided back to families. Data is then shared with qualified researchers. This study is crucial to better understand how OCNDS affects people over time.
We ended 2024 with:
147 individuals registered (+34)
141 individuals fully consented (+35)
126 individuals with lab reports approved (+35)
92 individuals with completed medical history intake surveys (+21)
This is important as this intake is the main dataset that researchers use to try and better understand OCNDS
30 individuals who submitted blood samples (+7)
These are important as they provide crucial samples for researchers and Simons can generate a special type of cell line, called an induced pluripotent stem cell (iPSC) line from the blood samples
109 surveys were completed by participants

OCNDS PUBLICATIONS
2024 ended with 38 (+9) total publications about OCNDS/related to OCNDS
First foundation publication: Rushing GV, Sills J. Patient organization perspective: a research roadmap for Okur-Chung Neurodevelopmental Syndrome. Ther Adv Rare Dis . 2024
Research explained here
1 ^st mouse model of OCNDS characterized: Missense mutation in the activation segment of the kinase CK2 models Okur-Chung neurodevelopmental disorder and alters the hippocampal glutamatergic synapse
Others publications (linked to the corresponding Research Explained):
Okur-Chung neurodevelopmental syndrome: Implications for phenotype and genotype expansion
Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome
Inherited loss of function variant in CSNK2A1: the oldest reported cases of Okur-Chung syndrome in a single family
Improvement of variant reclassification in genetic neurodevelopmental conditions
Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndrome
Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders
Motor phenotypes associated with genetic neurodevelopmental disorders

PLANNING OUR 2025 SCIENTIFIC AND FAMILY CONFERENCE
July 17-20, 2025
Location: Embassy Suites by Hilton Denver Central Park located at 4444 N. Havana Street, Denver, CO 80239
Are you a researcher wanting to attend? Email Dr. Rushing ( gabrielle@csnk2a1foundation.org )
Family registration coming soon!
GRANTS
Applied for 7 highly competitive grants; received 2 grants
Chan Zuckerberg Initiative Rare as One Cycle 3: $800,000 over 5 years
2024 #RAREis Global Advocate Grant: $5,000 to translate key resources for families
One grant application is pending

RESEARCH PROJECTS
Awarded 1 new research grant:
Unravel Biosciences – Nasal Swabs from individuals with CSNK2A1 K198R variant
Aims: They will generate RNA sequencing data from the nasal swabs that will be used to predict drugs and therapeutic mechanisms using the BioNAV™ platform. This will generate the first primary clinical molecular dataset for CSNK2A1.
Status: Awaiting sample submission from all families. We expect data in Q1 of 2025.

Fundraised to support 1 new research grant through the Million Dollar Bike Ride :
Dr. Halim Loukil - Deciphering perturbations of primary cilia in Okur-Chung neurodevelopmental disorder.
Dr. Loukil will further investigate the mechanisms by which variants in CSNK2A1 affect cilia biology; cilia are important fine hairlike projections from certain cells that have varying functions in our bodies. This project will help researchers better understand what different mutations in CSNK2A1 do in the body and what signaling pathways may be disrupted; this will help the foundation better understand what therapeutic approaches to pursue.

Made strides with 3 additional grants funded at the end of 2023:
Dr. Clement Chow – Drug repurposing screen using OCNDS Fly Model
Aims: Dr. Chow utilized the Prestwick Chemical Library consisting of 1,520 compounds using a fly model of OCNDS where the levels of CK2 protein are reduced (representing individuals with deletion variants or variants in CSNK2A1 where there is a loss of normal function). Using the fly eye structure as a readout of drug effects, his lab will generate a list of ‘hits’ (compounds) that improve the fly’s symptoms.
Status: Top 12 hits are being validated. Once complete, we may test compounds in other models (e.g., cell lines, mouse model).

Dr. Matt Huentelman - Characterization of CSNK2A1 disease causing variants in two-dimensional differentiated neurons
Aims: Characterize the genotype-phenotype relationship for several disease-causing variants within the CSNK2A1 gene in patient-derived 2D cultures of differentiated neurons generated from induced pluripotent stem cells (iPSCs). This project will be critical in determining the utility of these patient lines for further studies such as drug repurposing and/or gene-modifying therapeutic approaches. Furthermore, we will gain valuable insights into how changes in the CSNK2A1 gene affect development.
Status: Cell lines received at TGen; some lines successfully growing. Data is expected by the conference in July 2025.

Dr. Heike Rebholz – Characterization of Mouse Models of OCNDS
Aims: Characterize four mouse models of OCNDS, whose mutations in the CSKN2A1 gene represent many variants seen in patients. Through this study, the effects of OCNDS will be profiled from a macroscopic to microscopic level, looking for changes in behavior, neuron functionality, and the proteome. This will provide conclusive evidence for the molecular basis of OCNDS and will provide pre-clinical models for testing future treatments.
Status: K198R mouse line characterized in a publication . A loss of function model (one copy of CSNK2A1 is knocked out) and R47G model currently being analyzed for behavior and function. The 4 ^th model (R312W) has unfortunately been lost due to unforeseen circumstances with how the model was generated.

SCIENTIFIC COLLABORATION
Hosted 4 Scientific Roundtables
84 contacts on our scientific roundtable email list
Met with key CSNK2B researchers at Columbia.
CSNK2B is the ‘sister gene’ to CSNK2A1; the B gene produces the beta subunit of the protein CK2 whereas A1 produces the alpha subunit.
Partnered with Citizen Health to provide families with a resource to store all their medical records in one location and participate in optional OCNDS research; we enrolled 62 individuals
Sponsored Young Investigators with a $5,000 grant to attend the International CK2 Conference in Germany.
Jose Cruz Gamero of the Rebholz lab in Paris defended his thesis project “Deciphering the role of protein kinase CK2 in a novel mouse model of Okur-Chung Neurodevelopmental Syndrome”.

ADVOCACY.

Advocacy plays a pivotal role in championing the rights and needs of individuals with OCNDS. By engaging with policymakers, healthcare professionals, and the broader community, we work to shape policies, raise awareness, and secure necessary resources to improve the quality of life for those affected.

LETTERS OF SUPPORT
Signed on to 35 letters of support on various issues important to our community including:
Increased federal investment in epilepsy research, education about seizure awareness, and funding for clinical trial readiness programs for rare diseases.
Reauthorization of the Rare Pediatric Disease Priority Review Program, a voucher that the FDA awards to companies that develop therapies for rare pediatric diseases. Priority review means the FDA will act on the application sooner than it would for a regular application.
Improving cross state access to multi-disciplinary teams of medical specialists in-person for drug administration and other services, as well as through telehealth.
Encouraging the California Institute for Regenerative Medicine (CIRM) to continue funding research into rare disease biology and treatments.

RARE DISEASE WEEK
Jennifer and PAB member Terri Jordan attended Rare Disease Week in Washington, D.C. And meet with representatives from California and Missouri to talk about issues affecting rare disease families. They also attended a brainstorming session to discuss federal legislative language, EPICrd – the Ensuring Parity through Individualized Care for Rare Disorders Act.
Published & distributed 2nd advocacy one-pager tailored for policymakers.
Leadership Roles : Jennifer Sills served on the California Coalition for Telehealth for CalRare.

AWARENESS.

FDA PATIENT LISTENING SESSION
We held a listening session on July 23, 2024. This effort was a critical step toward ensuring that the patient and family experience is heard loud and clear by regulatory decision-makers. By sharing our stories and insights with the FDA, we’re paving the way for future advancements in treatment and care.
Our official summary report captures the experiences of families affected by OCNDS.

OCNDS AWARENESS DAY
Over 19 different bridges, places of interest, and monuments around the world lit up in our foundation colors green and blue, including Niagara Falls and High Level Bridge.
6 proclamations were issued declaring April 5 ^th as OCNDS Awareness Day, including St. Louis County, City of Denver, Nova Scotia, Canada, State of Wyoming issued by the Governor, State of Colorado, City of St. Louis.

FEATURES. Utilizing a range of media and mediums, OCNDS families and foundation staff have effectively elevated awareness for OCNDS. Through blogs, features in local and national news and articles, participation in podcasts, inclusion in a documentary, and radio appearances, we were able to further broaden the reach of our message. These diverse approaches underscore the significance of tapping into various media channels to cater to different audiences, ultimately fostering a comprehensive understanding of OCNDS and garnering support for ongoing research and support initiatives. Here are some of those highlights:
Featured blog about the foundation published by the Chicago Council on Science and Technology (C2ST), written by PhD candidate Mackenzie Smith (Loyola University), whom Dr. Rushing met at the Society for Neuroscience Conference.
Rare Disease Day 2024 reflection by Keri Ninness. Read More!
Parent Advisory Board member Claire Whitehill and her family were in the news talking about OCNDS Awareness Day. Read More!
Claire Whitehill worked closely with Genomics England to share her daughter Kirsty’s OCNDS story and the importance of Whole Genome Sequencing. Genomics England is permanently featuring OCNDS and Kirsty’s story on their website. Check it!
Our very own Amber Reynolds was featured on a podcast from Disability Parenting Pod. From focusing on limitations to celebrating "inchstones," Amber's story reminds us to cherish every small victory in parenting. Listen Now
Jennifer Sills bravely shared her rare disease journey from relief to anger in a blog post . Read her raw & vulnerable piece, " One Foot in Front of the Other: Navigating Anger ".
Episode 4 of the *Dadaptation* podcast featuring one of our own, Brian Reynolds (dad to Harper), is now live on Spotify and Apple Podcasts! Listen on Spotify: https://open.spotify.com/episode/70dyvoewjsElv72jlZRtSa ...
Jennifer Sills has a unique gift for weaving her passions into her advocacy for OCNDS. From her love of movies and sports to her extraordinary storytelling, Jennifer constantly finds creative ways to raise awareness about rare diseases. She occasionally channels that passion to amplify rare disease stories by reviewing films for @theDisorderChannel. Don’t miss her reviews of The Saint of Second Chances on Netflix and One Shot to Live on the Disorder Channel, both featured in RARE Revolution Magazine.

We earned a 2024 Top-Rated Award from Great Nonprofits for the 3rd year in a row. Read more or leave a review.

FUNDRAISING.

At the heart of every foundation lies the essential truth: it takes financial resources to make a difference. Every dollar raised is a beacon of hope, fueling our mission to bring about meaningful change. From generous donations to grassroots fundraisers, every contribution, no matter the size, plays a vital role in our journey. To all who generously gave or organized fundraisers to support OCNDS research in 2024, we extend our heartfelt gratitude.

TOTAL RAISED
We raised over $600,000 through several types of fundraisers:
Our annual golf tournament in Tarzana, California, at El Caballero Country Club is our largest fundraiser of the year. This year it crushed foundation fundraising records, raising over $430,000 thanks to our 29 volunteers , 123 golfers and sponsors and our outstanding golf committee Jennifer Sills, Micheal Kaplan, Jr., Joey Behrstock, Mike Greenfeld, J. Michael Grossman, Mike Grossman, Connor Hooper, Erin Massey, Avisha Patel, Tracy Phelps. Special thanks to our title Sponsor Pinnacle Contracting Corporation for leading by example.
Million Dollar Bike Ride: $30,013 with a matching gift of $30,000 from UPENN.
Run, Walk, & Roll: $23,000. We hosted our 4th annual virtual Run, Walk & Roll event raising over $23,000 with 275 participants across 10 countries.
Giving Tuesday is a global day of giving and our largest on-line fundraising campaign. For Giving Tuesday, we released a video featuring OCNDS families and researchers; the campaign raised over $112,000 for research, which included a $50,000 matching donation from loyal donors Joan and Charlie Davis.
In total, our community created 41 Facebook fundraisers !
Facebook Birthday Fundraisers: $13,288
Other Facebook Fundraisers: $3,336
Other Fundraisers: $10,000 (including F45 San Mateo community fundraiser, Terry Jordan & Family Bowling event, The Reynolds Family Brewability Event, Charity Day at BTIG)

If you are interested in hosting a fundraising event (such as bake sales, garage sales, dine-out nights, fitness challenges, car washes), please contact jennifer@csnk2a1foundation.org to discuss how we can support your event. These grassroots fundraising efforts can engage communities, raise awareness, and make a meaningful impact, one small step at a time.

FAMILY SUPPORT.

Supporting individuals and families living with OCNDS is foundational to our mission. This involves providing resources, creating a sense of community, and offering guidance tailored to the unique challenges they face.

REGISTRY
In the CSNK2A1 Foundation Contact Registry, we have 291 (+73) individuals from 42 (+8) countries speaking 25 (+3) languages. Our contact registry is one of a kind, as it keeps track of those with OCNDS, even if they speak different languages. This isn’t being done anywhere else. The literature doesn’t represent all the families struggling with OCNDS, and we want to give a better picture of how many people are being diagnosed worldwide. This isn’t a perfect system, as we know many other families that haven’t registered with the foundation for various reasons.
It is important for us to collect information about the diversity of mutations as there may be multiple mechanisms causing symptoms in OCNDS; distinct mutations may lead to different symptoms and/or varying severity. The registry also provides us with important contact information to provide families with relevant updates.

FAMILY MEETINGS
Hosted 2 regional ambassador meetups (Canada and England) and 7 family zoom calls
Hosted 2 international family meetings (Paris and London)

ACCESS TO INFORMATION
Translated simplified Gene Review into 24 languages
Part of awareness is arming families with information. In June 2022, Dr. Okur wrote a chapter in GeneReviews about OCNDS. GeneReviews is regarded as a reference resource among geneticists in terms of learning about the scope of a given condition, molecular genetic causes, and surveillance and management guidelines. We created a new resource for families to understand this GeneReview easily and this year we translated this vital resource into 22 languages.
Hosted a virtual symposium on April 6
New blog, “ Science Snapshots ”, aimed at simplifying the complex science and healthcare topics surrounding Okur-Chung Neurodevelopmental Syndrome (OCNDS) and the rare disease community.
3 blogs are live on ICD-10 codes and growth hormone
We developed a new webpage resource where families can nominate doctors who are making a positive impact on the lives of individuals with OCNDS.
Please continue to tell us about your doctors to help us build a map for people to use as a guide.

ICD-10 CODE APPLICATION
Associates at Hogan Lovells submitted our application for an ICD-10 code. Unfortunately, we were not selected for the September review committee meeting. Feedback was encouraging and we expect that our application will be discussed at their next meeting in March 2025.
An ICD-10 code is important for a rare disease because it creates a standard way for doctors and hospitals to identify and record the condition. This helps with tracking the disease, improving research, and making sure patients can get the care and insurance coverage they need.
REGIONAL AMBASSADORS. Regional ambassadors are responsible for building a supportive OCNDS community within their assigned region. They are a liaison between the families and the foundation, identifying issues and challenges that are unique to specific regions. We have 12 regional ambassadors. This year, we welcomed Edouard and Justine Convain. More about our regional ambassadors here .
Launched a new website making resources more accessible to all OCNDS stakeholders
Featured 5 Milestone Mondays celebrating the successes of those living with OCNDS .
70 dedicated volunteers generously contributed their time and expertise. These volunteers span the globe, representing regions such as Italy, Brazil, Canada, Texas, Los Angeles, Chicago, New York, San Francisco, United Arab Emirates, United Kingdom, Spain, Netherlands, and Norway.

CAPACITY BUILDING & PARTNERSHIPS.

Capacity building focuses on developing the internal structures, skills, and resources necessary for the foundation to grow sustainably and effectively deliver on our mission. Partnerships allow us to work efficiently and achieve more with limited resources. By fostering collaboration, we can influence systemic change, advance research, and bring treatments closer to reality faster than we could on our own.

We hired Elisabeth Mellinger as our Citizen Health ambassador to help families enroll in this initiative. Having a dedicated person to reach out to families and support them in registering for research projects was crucial to our success in our enrollment numbers.
We hosted 9 interns for various projects
Grace Snyder – Masters in Genetic Counseling Student, University of Pennsylvania
Project: Outreach to genetic testing labs to ensure CSNK2A1 is on relevant panels and generation of resources for families to better understand genetic tests (duration: 4 months)
Tierney Baum – PhD Candidate, Vanderbilt University
Project: Research and development focused on finding pharmaceutical and biotechnology partners of interest for the foundation (duration: 4 months)
Tierney was then hired as a part-time consultant for the foundation to help with scientific writing and additional research projects.
Elena Bagatelas – PhD Candidate, Vanderbilt University
Project: Analyzing Simons Searchlight natural history data and publishing results (duration: ~9 months; ongoing until publication acceptance)
Maahin Manzoor Khan , MBBS (Bachelor of Medicine, Bachelor of Surgery; equivalent to the Doctor of Medicine [MD] degree in the U.S.) - Shifa College of Medicine
Project: Along with Elena and Dr. Rushing, analyzing Simons Searchlight natural history data and publishing results (duration: ~9 months; ongoing until publication acceptance)
Aryana Adeline Valle-Portela – Undergraduate Student, University of California, Berkeley
Project: Assisting the foundation with social media presence and interviewing families to collect their stories (duration: 8 months).
Grace Branger – Masters in Genetic Counseling Student, Vanderbilt University
Project: Grace will be collaborating with the CSKN2A1 Foundation and COMBINEDBrain to develop a disease concept model for OCNDS, aiming to highlight the lived experiences of affected individuals and their families (duration: 2 years, started August 2024, ongoing). This research will inform clinical trial endpoints that prioritize patient and family needs.
Monica Strain – PhD Candidate, University of Connecticut
Project: Scientific Resource Development Intern. Monica will be developing comprehensive lists of resources such as grants, conferences, and research tools that scientists may find valuable for research in epilepsy, autism, rare disorders, neuroscience, and related topics. She will also attend a monthly meeting with scientific staff from other rare disease patient organizations (duration: 4-6 months, ongoing).
Caroline Bodnya – PhD Candidate, Vanderbilt University
Project: Caroline is our 2025 conference intern. She will be helping with planning the conference and will be on-site to write conference summaries (duration: 9 months, ongoing).
Ingrid Vallee , PharmD- PhD Candidate, Scripps Research
Project: Science Communications Volunteer. Ingrid will apply her pharmacy degree to assist with writing blog posts for our new Science Snapshots blog feature (duration: 4 months, ongoing).

Jennifer Sills stepped into her new role as Co-Chair of the CombinedBrain Board of Directors . CombinedBrain is a consortium of neurodevelopmental Patient Advocacy Groups accelerating treatments by pooling data.
ATTENDANCE AT CONFERENCES
Dr. Rushing attended 8 conferences spanning neuroscience, patient advocacy, and drug development. She received travel awards for 3 of these conferences.
Dr. Rushing served as a moderator for 2 conferences (National Organization for Rare Disorders and Global Genes Rare Drug Development Symposium).
Dr. Rushing also represented us as a continued member of the Epilepsy Research Benchmarks Stewards Committee.
Brought on Tierney Baum, PhD, as a project research consultant to strengthen our research capabilities.
Dr. Rushing stepped into her new role as Chief Science Officer.
Increased the hours of our Operations Manager, Beth Chaffin, to better support the growing needs of the foundation and ensure smooth day-to-day operations as our reach and impact continue to expand.
3 new partnerships (Citizen Health, CZI and FasterCures’ The Research Acceleration and Innovation Network (TRAIN))
22 existing partnerships continued
We held 6 Parent Advisory Board meetings in which 11 parent advisory board members played a vital role in ensuring the patient voice is heard and represented in all aspects of our foundation.

2024 At A Glance

By the Numbers

Team Growth & Capacity

new Chief Science Officer appointed

research interns mentored, our largest cohort yet

key staff additions

expanded operations role

Parent Advisory Board (PAB) members & 6 PAB meetings conducted

Global Reach

291

registered individuals (+73)

countries represented (+8)

languages spoken (+3)

regional ambassadors

languages of translated resources

Research Impact

total OCNDS publications (+9)

individuals enrolled in Citizen Health

new natural history study participants

1st

characterized mouse model

new fly model developed

nutraceutical in testing

Community & Support

family zoom calls completed

active global volunteers

strategic partnerships (+3)

19+

landmarks illuminated green & blue for OCNDS Awareness Day

OCNDS Awareness Day proclamations

advocacy letters supported

international family meetings

Financial Impact

$1.4M+

total funds & grants secured

$800,000

CZI 5- year grant

$430,000

record-breaking golf tournament

community-led Facebook fundraisers

3rd

consecutive Top-Rated Award for Great Nonprofits

Research Participation

147

Simons Searchlight registrations (+34)

141

fully consented participants (+35)

126

approved lab reports (+35)

completed medical histories (+21)

blood samples submitted (+7)

109

completed surveys

Science Snapshot - The Central Dogma: DNA, RNA, Protein

Tue, 07 Jan 2025 16:26:29 GMT

Author: Tierney Baum, PhD, Strategic R&D Consultant

Editor: Gabrielle Rushing, PhD, Chief Scientific Officer

DNA is often referred to as the building block of life, but what does that really mean? Think of it as a set of instructions, like a blueprint or recipe, that shapes who we are. It is what makes humans different from other animals and what makes each person unique, from the color of our eyes to the way our bodies work. In this Science Snapshot we will explore how DNA is capable of making us, us!

What is Deoxyribonucleic Acid (DNA)?

All living organisms, from bacteria to humans, contain genetic information in the form of DNA. DNA is a set of instructions written with an alphabet of four ‘letters’ called nucleotide bases . These letters form a code that acts as a template which gets read out by the cells in our bodies.

Because organisms are complex, we require a lot of instructions to form and run our bodies. Different regions of the DNA code are known as genes . Genes are arranged one after another at specific locations on a strand of DNA; long strands of DNA containing our genes are tightly compacted into structures called chromosomes . Chromosomes are housed in a compartment in the cell called the nucleus ; almost every cell in the body has its own nucleus with an entire copy of your DNA sequence.

Human beings all have the same DNA template (or genome ); however, the specific sequence differs between individuals. You can think of this like houses - every house has most of the same components (a living room, bathroom, kitchen, etc.), however, the specifics of how each house is composed differ. The same is true for humans – for example, every person has genes for hair, but versions of those genes will change depending on brown vs. blonde or curly vs. straight hair. These versions of genes give us our characteristics that are passed down through generations.

Infographic

Text Infographic: Cell > Nucleus > Chromosome > DNA Strand > Gene

The Central Dogma: DNA -> RNA -> Protein

DNA (cookbook): Stores all the genetic information, like a cookbook holds all the recipes. However, in the case of DNA, the ‘cookbook’ cannot be ‘checked out’ or moved.

RNA (recipe): RNA is transcribed from DNA and acts like a movable template for making proteins. RNA can be transported to the site of protein synthesis outside of the nucleus. If DNA is comparable to a cookbook, then RNA would be like a disposable photocopy of a specific recipe from that book that can be moved.

Protein (finished dish): The final product is a protein, which is translated from RNA. You can think of a protein being made from RNA like the final dish that is made by following the instructions on the recipe.

Like the steps on a recipe, the RNA dictates the specific order of amino acids that should be assembled into a protein. One RNA molecule can be used repeatedly to create multiple proteins. In this way a large amount of protein can be made from a gene when necessary.

What are proteins?

Proteins are the main ‘workers’ in our cells, serving many functions. Proteins act as structural components in cells, cause reactions, regulate the immune system, form the major component of muscles, serve as neurotransmitters and hormones, and have many other roles. Every aspect of our physiology involves proteins. Proteins are made up of amino acids; there are 20 different amino acids, and our bodies can make some of them but others, called ‘essential amino acids’, must come from our diet.

In a restaurant some recipes are ordered more frequently than others; expression of genes is the same depending on how often a specific protein is needed. In this way the cell can make large quantities of some proteins and little of others. In summary, here is a quote from the Genomics 101 Podcast ¹ : “while we can think of DNA as the instruction manual for the body that contains all of our genetic code, RNA is the reader of this instruction manual, and it helps the cell to carry out these instructions, so the proteins can be made”.

To learn more about protein synthesis and the central dogma, visit this YouTube video:
https://www.youtube.com/watch?v=ubdoUqmNF98

References

https://www.genomicsengland.co.uk/podcasts/genomics-101-what-is-the-difference-between-dna-and-rna

Research Explained: Motor phenotypes associated with genetic neurodevelopmental disorders

Fri, 03 Jan 2025 13:32:36 GMT

Authors: Alexandra Santana Almansa, LeeAnne Green Snyder, Wendy K. Chung, Jennifer M. Bain, and Siddharth Srivastava

Written By: Tierney Baum, PhD, Strategic R&D Consultant

Edited by: Gabrielle Rushing, PhD, Chief Scientific Officer, CSNK2A1 Foundation

Link to Publication

This recent publication focuses on characterizing motor disturbances in patients with neurodevelopmental disorders (NDDs) by analyzing available data in the Simons Searchlight database. Researchers in this study were interested in determining if certain genetic disorders were associated with a more severely affected motor presentation in patients. Both CSNK2A1 and the sister gene, CSNK2B, were included in the study.

Simons Searchlight is an online international research program with a natural history database, biorepository, and resource network for over 175 rare genetic neurodevelopmental disorders.

Simons Searchlight is a project supported by the Simons Foundation, through the Simons Foundation Autism Research Initiative (SFARI).

https://www.simonssearchlight.org

Summary of Results

Motor Milestone: Sitting Unsupported

Records from 777 individuals showed the average age of sitting unsupported at 11.4 months
Individuals with CSNK2A1 mutations had an average age of sitting of 9.9 months unsupported and individuals with CSNK2B mutations had an average age of sitting of 8.2 months

Motor Milestone: Walking Independently

Records from 638 individuals showed the average age of walking independently at 25.4 months
Individuals with CSNK2A1 mutations had an average age of walking independently at 30.6 months and individuals with CSNK2B mutations h an average age of walking independently at 18 months
One CSNK2A1 patient had an age of walking reported at ~240 months (20 years)

Tone Abnormalities

696 individuals were reported to have tone abnormalities with 83% reporting hypotonia, 16% hypertonia, 10% cerebral palsy (CP), and 3% spastic CP
Researchers note that of all the genetic neurodevelopmental disorders reported, CTNNB1 and DYRK1A-related disorders had a notably high prevalence of motor disturbances. Outside of these two disorders there was generally a low prevalence of reported CP among other NDDs (~10%)
30 CSNK2A1 patients self-reported tone abnormalities.
Out of these 30, only 1 CSNK2A1 patient was reported to have hypertonia and 2 out of 30 (~7%) were reported to have cerebral palsy.

Definitions

Hypotonia - low muscle tone or muscle weakness

Hypertonia - high muscle tone so that limbs may be stiff and difficult to move

Cerebral Palsy - a group of neurological disorders that effect the ability to move, maintain balance, and control muscles

Spastic Cerebral Palsy - a type of cerebral palsy that causes increased muscle tone, causing stiff muscles and muscle spasms

The charts below show different numbers in the columns:

Column 1: descriptive (gene and milestone name)

Column 2: the total number of patients included in the study for CSNK2A1 (42) and CSNK2B (8)

Column 3: the average age in months of the patients in the study

Column 4: the average age of achievement of listed milestone (e.g., sitting or walking)

Column 5: the minimum or lowest age reported in the study for listed milestone

Column 6: the maximum or highest age reported in the study for listed milestone (for patients who reported reaching the milestone)

Column 7: percentage of patients that have not yet reached the milestone

*All 8 CSNK2B patients in the study achieved the milestones of sitting and walking whereas 2 CSNK2A1 patients in the study had not yet achieved the milestones at the time of analysis.

What does this mean for individuals with OCNDS?

This study highlights key insights into motor development and tone abnormalities in individuals with CSNK2A1 mutations compared to other neurodevelopmental disorders (NDDs). By better understanding these patterns, families and clinicians can anticipate challenges and implement targeted strategies to optimize developmental outcomes for individuals with OCNDS.

Motor Milestones

Sitting Unsupported: Individuals with CSNK2A1 mutations typically achieve sitting unsupported at an average of 9.9 months, which is slightly earlier than the general average for individuals with NDDs (11.4 months). However, 4.8% of individuals with CSNK2A1 mutations had not yet reached this milestone at the time of the study.
Walking Independently: Walking independently occurred later, at an average age of 30.6 months, compared to the general average for NDDs (25.4 months). Notably, 4.9% had not achieved this milestone, with one individual reporting a walking age as late as ~240 months.

Tone Abnormalities

Among individuals with CSNK2A1, tone abnormalities were reported in 30 patients:
Hypotonia (low muscle tone) was the most common.
Only 7% reported cerebral palsy, reflecting a relatively low prevalence compared to disorders like CTNNB1 and DYRK1A.

Implications

Developmental Variation: Motor development in individuals with CSNK2A1 mutations shows significant variation. While many achieve milestones on time, others may face delays, underscoring the need for tailored early interventions and physical therapies.
Low Risk of Severe Motor Impairment: A lower prevalence of severe motor impairments, such as CP, is encouraging, though hypotonia remains a common concern.
Individualized Care: These findings highlight the importance of individualized developmental monitoring and support for motor skills in individuals with CSNK2A1 mutations.

Research Explained: Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders

Thu, 26 Dec 2024 19:22:16 GMT

Authors: Thomas W. Frazier, Robyn M. Busch, Patricia Klaas, Katherine Lachlan, Eva Loth, Constance Smith-Hicks, Mustafa Sahin, Antonio Y. Hardan, Mirko Uljarevic, NET Development Project Team

Written By: Tierney Baum, PhD, Strategic R&D Consultant

Edited by: Gabrielle Rushing, PhD, Chief Scientific Officer, CSNK2A1 Foundation

Link to Paper

Research Explained Summary:

In this 2024 publication, researchers have developed an assessment tool called the Neurobehavioral Evaluation Tool (NET), which includes 11 different surveys that aim to help add to a growing understanding of neurobehavioral features and developmental strengths and weaknesses associated with specific neurodevelopmental genetic syndromes (NDGS).

Researchers were able to examine different NDGS using this brief and highly accessible tool and characterize unique profiles of cognitive, behavioral, and functional impairments of these disorders. This study highlights that by using NET it may be possible to understand syndrome specific neurobehavioral patterns.

This study surveyed 498 participants total from the following syndromes: 112 PTEN hamartoma tumor syndrome (PHTS), 47 SYNGAP1, 24 Malan Syndrome (NFIX), 72 other NDGS groups (13 CSNK2A1, 14 ADNP, 10 STBP1, 8 SCN2A, 11 GRIN2B, 8 HIVEP2, 6 MED13L), 54 Autism Spectrum Disorder (ASD), Attention Deficit Hyperactivity Disorder (ADHD), and mood disorder, 72 siblings of NDGS individuals, 115 unrelated healthy controls

Other NDGS (CSNK2A1, ADNP, STBP, SCN2A, GRIN2B, HIVEP2, MED13L)
Extremely high elopement and self-injury
High restricted/repetitive behavior, distraction and disorganization, and restless sleep
High symptom levels for physiological/panic and sensory anxiety symptoms
Extremely low motor skills, processing speed, and perspective-taking
Low and very low basic social communication, relationships, sequencing, and daily living skills
Very low family and physical and mental health QoL

Thirteen individuals with CSNK2A1-specific syndrome were surveyed (as part of the Other NDGS group) and showed the following top 5 neurobehavioral symptoms compared to neurotypical individuals:

Decreased speed/strength/stamina
Decreased basic motor skills
Decreased processing speed
Decreased perspective taking
Increased self-injury

Researchers noted that reductions in basic motor skills, speed/strength/stamina, and processing were the most consistently impaired across disorders. They suggest that neurobehavioral skills that are heavily dependent on frontal cortex systems might be the most likely to be disrupted in neurodevelopmental disorders. This could be an important consideration for what analysis scales to use in future clinical research in OCNDS.

A Bee’s Lesson: How Small Efforts Create Big Impact in Rare Disease Advocacy

Mon, 02 Dec 2024 12:38:52 GMT

Research Explained: A Case of Okur-Chung Neurodevelopmental Syndrome with a Novel, de novo Variant on the CSNK2A1 Gene in a Turkish Patient

Thu, 28 Nov 2024 09:54:43 GMT

Authors: Drenushe Zhuri, Fulya Dusenkalkan, Guzin Tunca Alparslan, Hakan Gurkan

Written By: Tierney Baum, PhD, Strategic R&D Consultant

Link to publication: https://pmc.ncbi.nlm.nih.gov/articles/PMC10862324/

Most OCNDS patients are reported to have either a missense or nonsense variant in their CSNK2A1 gene.

In 2023 a research group from Trakya University reported a patient with a novel CSNK2A1 mutation. At the time of publication this was the first reported frameshift variant reported in an OCNDS patient.

Missense variant – a single change in the DNA sequence that results in a different amino acid substitution; often changes the function of the resulting protein

Nonsense variant – a single change in the DNA sequence that results in a stop signal in the DNA resulting in a shorter and likely non-functioning protein

Frameshift variant – an addition or deletion of a nucleotide base in the DNA sequence which changes the amino acid ‘reading frame’; results in a chemically different protein with completely different amino acids following the change in sequence

Heterozygous - having one normal (unmutated) copy of a gene and one mutated copy

De novo - a change in DNA that happens for the first time in an individual and is not inherited from either parent. These mutations occur randomly in the sperm, egg, or early during embryo development and can sometimes lead to genetic conditions or traits that were not present in the family before.

At the time of publication, the reported patient was a 2-year-old male brought into the clinic with hypotonia. A physical exam showed observations of a wide forehead, flattened and wide upper nose, epicanthal folds in the right eye, low set ears, smaller jaw, and widened toes. Cranial MRI showed an underdeveloped myelination pattern and mild atrophy in two of the lateral ventricles resulting in being enlarged due to tissue loss.

Whole-exome DNA sequencing was performed, and the patient was found to have a heterozygous variant M381G (c.1139_1140GGdup; p.Met381GlyfsTer32) at the terminal end of the CSNK2A1 gene. This variant was novel and reported to lead to a frameshift mutation. Both parents were not found to have the mutation, so this variant was considered de novo in the child.

A protein analysis was done to better understand the possible functional changes of the reported variant protein. It was expected that this change would result in a longer form of the CK2 protein that may not be functional. The location of the variant likely has effects on many parts of the protein, so it was hypothesized that this mutation could affect how this protein binds to other subunits of CK2.

Researchers emphasize that more studies are needed to fully understand the effect of the variant. This study shows that the position and type of the CSNK2A1 variant are likely important factors for severity of patient symptoms and how they are present in the clinic.

Science Snapshot - Growth Hormone and OCNDS

Thu, 28 Nov 2024 09:08:00 GMT

Author: Tierney Baum, PhD, CSNK2A1 Foundation Strategic R&D Consultant

Edited by: Gabrielle Rushing, PhD, CSNK2A1 Foundation Chief Scientific Officer

Some OCNDS patients are smaller at birth and about ~1/3 of OCNDS kids have short stature or decreased weight gain. Understandably, families often ask about the use of growth hormones in the treatment of OCNDS.

Here is more information about what is currently known about growth hormone and OCNDS:

What is human growth hormone (HGH)?

Research on growth hormone and OCNDS

Current understanding of the effects of growth hormone on patients with OCNDS is limited, however there is a growing amount of research that shows there may be benefits to OCNDS patients with growth deficits. There have been 3 published case reports of OCNDS individuals with a growth hormone deficiency (Chiu et al., 2018; Wu et al., 2021). There are likely more undocumented cases due to challenges with blood draws and children with neurodevelopmental disorders.

One parent spoke with Dr. Rushing earlier this year and provided the following testimony about her child and journey with pursuing growth hormone treatment:

“Measurements of IGF-1 continue to be lower with each time they are tested, and at a level that is highly likely of partial growth hormone deficiency. Despite his short height and genetic diagnosis, to fully diagnose this will require a long stimulation test which will be quite difficult to achieve, given his intense medical anxiety and fight or flight response.

So, we are working on trying to find the right accommodations to get him through this testing. This testing requires getting an IV placed, and 5 hours of administering various medications and drawing blood at 30-minute intervals throughout, and the medications can cause nausea or low blood pressure. We have never been successful getting an IV placed before without him being sedated.”

This testimony is just one example highlighting the challenges families face in trying to determine appropriate treatment options for their children.

Growth hormone use in other rare neurodevelopmental syndromes

Supplementation with growth hormone has shown promising but modest effects in children with other neurodevelopmental disorders similar to OCNDS, such as Rett syndrome and Phelan-McDermid Syndrome (PMS).

A pilot study of less than ten children published in 2022 by researchers at the Icahn School of Medicine at Mount Sinai showed that treating PMS patients with human growth hormone was well-tolerated without causing serious side effects. This study showed some possible improvement in social withdrawal, hyperactivity, and sensory symptoms in these patients (Sethuram et al., 2022).

Though encouraging, more studies are needed to understand how growth hormone affects kids with neurodevelopmental disorders. Currently, we do not know how these results may translate to patients with OCNDS.

Current recommendations

In a 2022 interview with CSNK2A1 Foundation founder Jennifer Sills, Dr. Wendy Chung addressed the use of growth hormone in children with OCNDS.

Watch the interview here!

Dr. Chung explains that there is likely a modest effect on treating OCNDS patients with growth hormone since not all patients exhibit a deficit in growth hormone. Supplementing with growth hormone may be beneficial to accelerate growth earlier during childhood. So called ‘frontloading’ childhood growth may allow kids to socially benefit by growing at a similar rate to their peers. It is currently unclear whether there could be a long-term effect on overall height by doing this.

Dr. Chung also notes that because growth hormone improves lean muscle mass there may be some improvement in hypotonia in patients. She emphasizes that it is important to keep in mind some possible downsides to using growth hormone, including the following:

Possible growth side effects (particularly if there is a strong family predisposition to tumors)
Injectable medications can be difficult to administer to kids with OCNDS
Costly medication (unlikely to be covered currently by insurance without evidence of growth hormone deficiency in a patient)
Modest or possibly no improvement

If parents do decide to try growth hormone supplementation it would be beneficial to communicate the quantitative results to the broader OCNDS community. This can be done by requesting growth charts from your pediatrician or endocrinologist. By doing this we may be able to pool enough quantitative results to have a better picture of how supplementing with growth hormone specifically impacts kids with OCNDS.

Another way to provide your data for research is by participating in Citizen Health. Through Citizen Health, you can store and access all of your medical records in one place, share them with whomever you choose, and contribute to OCNDS research for free. Generating data for our natural history studies on Citizen Health doesn’t require any clinical visits. The data will be extracted from your existing medical records, de-identified for your privacy and protection and, with your consent, organized to share with researchers and pharmaceutical companies. Our goal is to enroll 100 families by the end of 2025! Learn more here: Citizen Health .

References

Chiu ATG, Pei SLC, Mak CCY, Leung GKC, Yu MHC, Lee SL, Vreeburg M, Pfundt R, van der Burgt I, Kleefstra T, Frederic TM-T, Nambot S, Faivre L, Bruael A-L, Rossi M, Isidor B, Kury S, Cogne B, Besnard T, Willems M, Reijnders MRF, Chung BHY. Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion. Clin Genet. 2018;93:880–90. [PubMed]

Sethuram S, Levy T, Foss-Feig J, Halpern D, Sandin S, Siper PM, Walker H, Buxbaum JD, Rapaport R, Kolevzon A. A proof-of-concept study of growth hormone in children with Phelan-McDermid syndrome. Mol Autism. 2022 Jan 29;13(1):6. doi: 10.1186/s13229-022-00485-7. PMID: 35093163; PMCID: PMC8800321.

Wu RH, Tang WT, Qiu KY, Li XJ, Tang DX, Meng Z, He ZW. Identification of novel CSNK2A1 variants and the genotype-phenotype relationships in patients with Okur-Chung neurodevelopmental syndrome: a case report and systematic literature review. J Int Med Res. 2021;49:3000605211017063. [PMC free article] [PubMed]

Science Snapshot – ICD-10 codes and OCNDS

Tue, 26 Nov 2024 08:21:40 GMT

Author: Tierney Baum, CSNK2A1 Foundation Consultant

Establishing an ICD-10 code for rare disorders like OCNDS is important for increasing visibility by standardizing the language used to diagnose disorders Having an accurate code for OCNDS means that when new patients are evaluated by a medical provider, they will begin to have the unique code associated with their records; this makes tracking patients and their outcomes much easier for the OCNDS community. It will also be easier for newly diagnosed patients to connect with OCNDS community resources. These codes can also aid researchers in identifying patients eligible for research studies.

ICD-10 codes are pivotal for tracking OCNDS patient health outcomes, especially if a new therapy becomes available. Insurance companies may vary in their willingness to cover treatments based on how many patients are linked to a specific ICD-10 code in their records.

Without an appropriate code that accurately describes a patient’s diagnosis, healthcare providers must choose from alternative and likely less accurate codes. This could affect coverage and reimbursement for OCNDS patients, making access to care more challenging. Common codes used for OCNDS patients include general codes for intellectual disability/developmental delay, seizures, autism, and/or ADHD.

When used correctly, ICD-10 codes can be a powerful tool for the OCNDS community. Fortunately, the patient advocate community can play a direct role in working toward establishing a specific code for OCNDS.

At the time of writing this Science Snapshot (October 2024), the foundation has submitted a proposal and hopes it will be discussed at the March 2025 meeting.

Research Explained: Expanding the Phenotypic Spectrum of CSNK2A1-associated Okur-Chung Neurodevelopmental Syndrome (2024 Pre-print)

Tue, 19 Nov 2024 05:12:21 GMT

Authors: Swetha Ramadesikan, Iftekhar A. Showpnil, Mohammad Marhabaie, Allison Daley, Elizabeth A. Varga, Umamaheswaran Gurusamy, Matthew T. Pastore, Emily R. Sites,

Murugu Manickam, Dennis W. Bartholomew, Jesse M. Hunter, Peter White, Richard K. Wilson, Rolf W. Stottmann, Daniel C. Koboldt

Research Explained By: Tierney Baum, PhD, Strategic R&D Consultant

Link to Publication: https://linkinghub.elsevier.com/retrieve/pii/S2666-2477(24)00119-2

Research Explained Summary:

Microcephaly, or smaller head size, has been reported in patients with OCNDS, but at the time of writing this publication microcephaly was not currently listed in the overall clinical spectrum of symptoms for OCNDS in the Online Mendelian Inheritance in Man database (OMIM). OMIM is a comprehensive collection of human genes and their associated genetic phenotypes (traits). Researchers in this study describe four individuals with OCNDS as well as an analysis of symptoms that are present in patients presented in existing OCNDS publications. They found that individuals with OCNDS, on average, have a smaller head circumference. The study also concluded that ~1/3rd of OCNDS individuals have full microcephaly.

Strikingly, study investigators also found that microcephaly was associated with specific patient variants in the CSNK2A1 gene that affect different parts of the protein made by CSNK2A1, called CK2. 36% of individuals with variants in the kinase domain of CK2 (amino acids 39-324 representing approximately 75% of the protein) presented with microcephaly compared to only 14% of individuals with variants in other domains of the protein.

The kinase domain of the CK2 protein is essential for activating the protein; dysfunction of this domain often results in fewer functioning CK2 proteins in the cell. Furthermore, a section of the kinase domain, called the ATP/GTP loop (also known as the Gly-rich loop), is critical for this activation because it is where the molecule that stores and releases energy for cells binds. Researchers found that up to 62% of patients with variants in this segment of CK2 (amino acids 49-53) had microcephaly.

The two main conclusions of this paper were:

Microcephaly is relatively common in OCNDS patients and should be included in the clinical list of symptoms.
Microcephaly significantly correlates with the location of the CSNK2A1 variant.

Researchers suggest further studies are needed to investigate if there are other connections between patient symptom profiles and their specific variant. This study is a step forward in understanding how patient variants may affect symptom presentation in children with OCNDS.

Science Snapshot – What are ICD-10 codes?

Mon, 11 Nov 2024 08:29:36 GMT

Author: Tierney Baum, CSNK2A1 Foundation Consultant

Have you ever considered what happens between your doctor’s visit and receiving a bill from insurance?

How do doctors and insurers communicate, and how is the billing decided?

A key factor in this process is the International Classification of Diseases (ICD)-10 codes, which your doctor submits after your visit. Accurate coding, especially for rare diseases such as OCNDS, is crucial for receiving reimbursement for medical procedures and accurately tracking patient statistics.

What is an ICD code?

ICD codes, which originated in the mid-1800s, are a standardized system used to classify medical diagnoses. Healthcare providers utilize these codes when diagnosing patients. They serve several important purposes:

Measuring safety and effectiveness of patient care
Determining the health status of certain populations and their risk factors
Monitoring health provider’s performance
Assessing healthcare costs
Investigating and preventing insurance billing abuses

ICD-10 codes are particularly vital for medical providers to receive reimbursement from insurers or patients. These codes help justify that the services provided are medically necessary.

ICD-10 codes are internationally recognized and published by the World Health Organization (WHO), but their modification for use in the U.S. is managed by the CDC’s National Center for Health Statistics (NCHS). Currently in their 10 ^th revision, ICD codes are updated annually to include new diseases.

How does the coding system work?

ICD-10-CM (Clinical Modification) codes are used for diagnosis across all healthcare settings. They consist of 3-7 characters. Each code begins with a letter indicating the chapter under which the diagnosis falls. The second and third characters are numbers, while the remaining characters can be letters or numbers. As more characters are added, the code provides increasingly specific diagnostic information.

Here are some examples of varying detail:

G40 Epilepsy and recurrent seizures (general)

G40.0 Focal epilepsy of localized onset

G40.01 Focal epilepsy of localized onset, not intractable (more specific)

G40.B01 Juvenile myoclonic epilepsy, intractable with status epilepticus (expanded details)

F03.C18 Unspecified dementia, severe, with other behavioral disturbance (combination codes)

How are new codes made?

Every year new codes are added to the system; in 2024 alone, nearly 400 new codes have been added. To create a new code, a proposal is submitted to the NCHS, which are reviewed twice a year in March and September. Members of the public as well as representatives from the private sector are able to submit proposals for new codes.

Steps to making a new ICD-10 code:

Submit 2-page proposal to NCHS

a. Describe the code
b. Suggest placement within classification structure
c. Provide rationale for code’s necessity (including clinical relevance)
d. Include supporting clinical references and literature
If accepted, there is an invitation to do a 15-minute presentation at one of the committee meetings. Presentations are often given by an expert clinician in the field.
The public are invited to contribute written comments on the proposal. This includes additional letters of support from clinicians.
Importantly, creating a new ICD-10 code is just the beginning; educating healthcare providers about these new codes is essential for ensuring they are used effectively.

References

https://www.cdc.gov/nchs/icd/icd-10-cm/index.html

https://www.who.int/standards/classifications/classification-of-diseases

https://www.aapc.com/resources/what-is-icd-10

https://everylifefoundation.org/icd-code-roadmap/#home

https://www.cdc.gov/nchs/icd/icd-10

Research Explained: Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome (2023)

Tue, 22 Oct 2024 07:02:46 GMT

Authors: Newell Belnap, Aiai Price-Smith, Keri Ramsey, Kamawela Leka, Anna Abraham, Emma Lieberman, Katie Hassett, Sai Potu, Natasha Rudy, Kirstin Smith, Fady M. Mikhail, Kirstin G. Monaghan, Andrea Hendershot, Jeroen Mourmans, Maria Descartes, Matthew J. Huentelman, Jennifer Sills, Sampath Rangasamy, Vinodh Narayanan

Research Explained By: Brad Davidson, CSNK2A1 Foundation Science Communication Intern

Link to Paper: https://onlinelibrary.wiley.com/doi/10.1111/cge.14408

Research Explained Summary:

In this study, researchers profiled and compared OCNDS symptoms present within and across three families. This report is the first study of families with OCNDS inherited by children from their parents, instead of the more common inheritance pattern where the OCNDS genetic variant is new and only is present in the child. This report also confirms that both men and women with OCNDS are fertile.

When comparing each of these families, there was a striking difference in the symptoms experienced by each parent and child, even though the OCNDS genetic variant is the same. For example, two half-sisters (individuals that share only one parent) in a family with OCNDS experienced vastly different effects with one displaying behavioral issues, musculoskeletal problems, growth irregularities, and difficulty feeding among other symptoms that were present but much less severe in their half-sister. When comparing across families, symptoms were even more divergent, despite two families having the same disease-causing DNA variant. Although both families displayed the p.Lys198Arg (K198R) variant in the CSNK2A1 gene, the most common disease-causing variant found in OCNDS patients, one of the families had multiple cases of generalized muscle weakness (hypotonia), while the other instead experienced behavioral issues.

Together, this report shows that OCNDS symptoms vary greatly even within individuals with the same genetic changes causing OCNDS. These symptoms also varied within families, indicating that it is unlikely that researchers will be able to correlate specific OCNDS-causing DNA variants with specific symptoms. More generally, these findings indicate that there may be many people with undiagnosed OCNDS throughout the world due to the varying severity of symptoms and therefore varying diagnosis/treatment needs.

Research Explained: Missense mutation in the activation segment of the kinase CK2 models Okur-Chung neurodevelopmental disorder and alters the hippocampal glutamatergic synapse

Wed, 09 Oct 2024 07:11:31 GMT

Authors: Jose M. Cruz-Gamero, Demetra Ballardin, Barbara Lecis, Chun-Lei Zhang, Laetitia Cobret, Alexander Gast, Severine Morisset-Lopez, Rebecca Piskorowski, Dominique Langui, Joachim Jose, Guillaume Chevreux and Heike Rebholz

Publication Date: October 4, 2024

Research Explained By: Gabrielle Rushing, PhD, Chief Scientific Officer, CSNK2A1 Foundation

Link to article: Cruz Gamero Author MS

Research Explained Summary:

This publication characterizes the first mouse model of OCNDS. Researchers generated a mouse that has the K198R mutation in the alpha subunit of CK2, representing approximately 1/3rd of OCNDS patients. Results indicate that the mice have behavioral symptoms that resemble what is observed in humans, including an increase in repetitive movements, autism-like behaviors, memory deficits, and altered circadian activity that potentially represents sleep issues observed in humans. Notably, the K198R mice are smaller and weigh less than typical mice, potentially mirroring the postnatal short stature often seen in humans with OCNDS.

Further experiments demonstrated that the K198R mice have reduced CK2 activity and synapse formation in the hippocampus, a brain region important for learning and memory. Synapses are critical junctions where neurons communicate with one another and send messages. The authors found that K198R mice exhibit reduced synaptic plasticity, meaning the ability to respond to incoming messages to adjust the flow of information. This reduction suggests a possible mechanism for the behavioral and cognitive symptoms observed in OCNDS. There were no differences found in assays of motor abilities or social behavior. K198R mice did not exhibit spontaneous seizures but did show a reduced threshold (susceptibility) for seizures in assays where seizures where experimentally induced.

This mouse model represents a significant advancement in developing therapies for OCNDS. Its resemblance to the human condition allows researchers to use it as a valuable tool for preclinical therapeutic testing.

Research Explained: A complex of distal appendage-associated kinases linked to human disease regulates ciliary trafficking and stability (2021)

Tue, 27 Aug 2024 16:13:17 GMT

Authors: Abdelhalim Loukil, Chloe Barrington, and Sarah C. Goetz

Research Explained By: Sarah C. Goetz. PhD, Abdelhalim Loukil. PhD

Link to Paper: A complex of distal appendage–associated kinases linked to human disease regulates ciliary trafficking and stability | PNAS

Research Explained Summary:

Primary cilia are tiny projections present the surface of our cells that act like an antenna: They help cells receive signals from their surroundings and respond by activating certain cellular programs. These programs are important to control the development of embryos and the functioning of tissues in the human body. Because of this, genetic changes that cause defects in the structure of cilia lead to many different human genetic disorders.

The cilium assembles from an organelle called the centrosome, which forms the base of the cilium. Surprisingly, we found that CSNK2A1 is enriched at the base of the cilium, implicating it in the regulation or functioning of cilia. We found that the deletion of the CSNK2A1 gene from cells causes structural defects in the cilia: they become abnormally long and break more easily at the tip, which makes them less stable. Altogether, we found that CSNK2A1 is critical to maintaining normal movement of cellular materials inside the cilium, and for preserving the stable structure of cilia.

We also tested whether the changes to CSNK2A1 that are linked with Okur-Chung neurodevelopmental disorder (OCNDS) might affect cilia. When we introduced known CSNK2A1 mutations into cells, this led to abnormal cilia shape, suggesting the OCNDS changes might interfere with the functioning of cilia. These findings highlight a potential linkage between CSNK2A1 function in regulating cilia and OCNDS. Our ongoing work will further describe this link and uncover its molecular basis.

Research Explained: Protein kinase CK2: a potential therapeutic target for diverse human diseases

Tue, 27 Aug 2024 16:08:58 GMT

Authors: Christian Borgo, Claudio D’Amore, Stefania Sarno, Mauro Salvi, Maria Ruzzene

Publication Date: May 17, 2021

Research Explained By: Brad Davidson, CSNK2A1 Foundation Science Communication Intern

Link to article: https://www.nature.com/articles/s41392-021-00567-7

Research Explained Summary:

In this review article, the authors summarize all research conducted to date on the protein CK2 (Casein Kinase 2), an aggregate of multiple proteins that form a complex including two copies each of CK2α and CK2β, and how it relates to various human diseases. CK2 is an enzyme, meaning that it causes chemical reactions. Its two sub-components perform different functions – CK2α is the catalytic domain that performs the reaction, while CK2β is a regulatory domain that controls when the reaction happens. Unlike many enzymes that perform chemical reactions within a cell, CK2 does not need to be activated by another protein to perform its function. Generally, CK2 acts on other enzymes that are performing functions such as cell survival, growth, and migration among other functions, further increasing their ability to stimulate cells to perform these actions.

CK2 was first implicated in human disease in 1995 as a pro-cancer molecule due to its higher-than-expected presence in various cancers. Generally, cancers use their high levels of CK2 to promote cell survival and growth, granting them the ability to continue growing in the face things that usually kill cancers, such as the immune system and therapeutics. Other research groups have implicated roles for CK2 in infections, diabetes, cardiovascular diseases, retinal diseases, and inflammatory diseases. In addition, CK2 has been implicated in various neurodegenerative diseases associated with aging, including Parkinson’s, Alzheimer’s, Huntington’s, and Amyotrophic lateral sclerosis (ALS). Furthermore, CK2 has been implicated in a variety of behavioral neurologic disorders including Autism, ADHD, Schizophrenia, Major Depressive Disorder, and most relevant to the CSNK2A1 Foundation, OCNDS. Mutations in the CSNK2A1 gene, which encodes the CK2α subunit of CK2, cause OCNDS. OCNDS is a disease that manifests differently across individuals, but generally leads to symptoms including but not limited to developmental delays, muscular weakness, slow growth, and epilepsy. A similar disorder known as POBINDS caused by mutations in the CSNK2B gene that encodes CK2β has also recently been discovered, with patients displaying similar symptoms to OCNDS but with greater risk of seizure.

In terms of treatment for these various CK2-related diseases, there are multiple CK2 inhibitors currently in clinical trials as anti-cancer drugs. The mechanism of action for CK2 in OCNDS is still unclear, meaning that we don’t know if a CK2 inhibitor would be a promising candidate treatment or if CK2 needs to be targeted in a different way.

Research Explained: Okur-Chung Neurodevelopmental Syndrome GeneReview

Tue, 27 Aug 2024 16:07:07 GMT

Authors: Volkan Okur and Wendy Chung

Publication Date: June 9, 2022

Research Explained By: Gabrielle Rushing, PhD, CSNK2A1 Foundation Science Program Director and Jennifer Sills, CSNK2A1 Foundation Founder and President

Link to article: https://www.ncbi.nlm.nih.gov/books/NBK581083/

Research Explained Summary:

Please visit our simplified version of the GeneReview on our Care Recommendations page here.

Research Explained: Prevalence and architecture of de novo mutations in developmental disorders

Tue, 27 Aug 2024 16:01:37 GMT

Authors: Deciphering Developmental Disorders Study Group

Publication Date: January 25, 2017

Research Explained By: Brad Davidson, CSNK2A1 Foundation Science Communication Intern

Link to article: https://www.nature.com/articles/nature21062

Research Explained Summary:

This study collected genetic data from 8,361 individuals with neurodevelopmental disorders and sought to determine potential genes where mutations might lead to specific diseases, some previously described and others unknown. Because most individuals in this cohort were the only individuals in their family that had a neurodevelopmental disorder, genetic analyses of this cohort were powered to identify genes whose de novo mutation, or mutations not inherited from either parent, led to disease.

Through this analysis, 14 genes were identified as potentially disease causing through their de novo mutation. Among these genes was CSNK2A1, which we now know is causative of OCNDS. 7 individuals with mutations in this gene were identified within this cohort. At the time, OCNDS had only recently been discovered within a small 5 patient cohort – this study found OCNDS among a much larger cohort and further helped characterize the disease.

Research Explained: Predictive functional, statistical and structural analysis of CSNK2A1 and CSNK2B variants linked to neurodevelopmental diseases

Tue, 27 Aug 2024 15:58:00 GMT

Authors: Prasida Unni, Jack Friend, Janice Weinberg, Bolkan Okur, Jennifer Hochscherf, Isabel Dominguez

Publication Date: October 13, 2022

Research Explained By: Brad Davidson, CSNK2A1 Foundation Science Communication Intern

Link to article: https://www.frontiersin.org/articles/10.3389/fmolb.2022.851547/full

Research Explained Summary:

This paper leverages computational modeling to investigate the functional consequences of mutations in the CSNK2A1 and CSNK2B genes on the molecular level. Mutations in these genes lead to OCNDS and Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS) respectively. They are analyzed together in this paper due to the relatively similar symptoms presented by patients with these diseases and the relatedness of the proteins that are encoded by their corresponding genes. Genes are the molecular blueprint for proteins, which perform molecular functions required for life. The CSNK2A1 and CSNK2B genes encode the proteins CK2α and CK2β respectively. These proteins bind to each other and create a larger complex of proteins known simply as CK2. CK2 is an enzyme, meaning that it causes chemical reactions in a cell, potentially affecting many other proteins – CK2α performs these chemical reactions, while CK2β helps regulate the function of CK2 overall.

In this paper, all currently known OCNDS and POBINDS causing mutations were identified and tested. Overall, 68 mutations in the CSNK2A1 gene were examined as potentially causing OCNDS. 12 total locations in the CSNK2A1 gene were found to be recurrently mutated, indicating that these sites are important in development, although there were 45 total mutation sites found. Most of these mutations were clustered closely together on the gene, indicating that the regions they are found in are important to the CSNK2A1 gene and CK2α protein function. These regions are known as the Gly-rich-loop and P+1 loop, which are critical for the enzymatic function of CK2α.

The authors tried to predict the specific molecular alterations that CSNK2A1 mutations would have on CK2 protein function using computational algorithms. First, they used computational programs to predict which mutations lead to changes in CK2 enzymatic activity. Afterwards, they compared programs which attempted to determine which mutations lead to greater changes in the overall shape and structure of the CK2 protein. The authors identified mutations in specific domains of the CK2 protein and how they might affect the protein’s function and structure based on the best algorithms identified. Broadly, this study surveys all CSNK2A1 mutations known to date in depth and computationally profiled them on the genetic and protein level to determine specifically how each mutation might impact CK2 function. More knowledge in this area may lead to patient specific treatment approaches and potentially link distinct mutations to specific symptoms.

Research Explained: The Okur-Chung Neurodevelopmental Syndrome mutation CK2K198R leads to a rewiring of kinase specificity

Tue, 27 Aug 2024 15:51:37 GMT

Authors: Danielle Caefer, Nhat Phan, Jennifer Liddle, Jeremy Balsbaugh, Joseph O’Shea, Anastasios Tzingounis, Daniel Schwartz

Publication Date: April 19, 2022

Research Explained By: Brad Davidson, CSNK2A1 Foundation Science Communication Intern

Link to article: https://www.frontiersin.org/articles/10.3389/fmolb.2022.850661/full

Research Explained Summary:

In this article, the researchers deeply characterized the effects of a mutation in the CSNK2A1 gene known as p.K198R. This mutation is the most prevalent mutation found in OCNDS to date. The CSNK2A1 gene encodes a component of the protein known as CK2, an enzyme that causes chemical reactions, generally acting on other proteins in what is known as a “signaling cascade” to modify their ability to perform subsequent functions such as cell growth. To act on its target proteins, CK2 must recognize these proteins. Proteins are comprised of subunits known as amino acids, and a specific string of amino acids in a row can be recognized by other proteins as sites for binding – this is how CK2 knows which proteins to modify. However, the authors of this paper found that the K198R mutation in CSNK2A1 changes the ability of CK2 to bind to sites on specific proteins that it normally acts on, instead biasing CK2 towards new binding sites on different proteins. The researchers then looked for proteins that the K198R mutant CK2 would act on but that the normal CK2 protein wouldn’t act on, indicating potential differences that could be leading to the symptoms seen in OCNDS. Previously, it was thought that this mutation generally decreased CK2 activity instead of changing what downstream proteins it targeted. Together, these results help inform the growing body of research regarding what the molecular function of common OCNDS mutations are so that eventually these differences can be targeted therapeutically.

Research Explained: Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures

Tue, 27 Aug 2024 15:48:08 GMT

Authors: Mitsuko Nakashima, Jun Tohyama, Eiji Nakagawa, Yoshihiro Watanabe, Ch’ng Gaik Siew, Chieng Siik Kwong, Kaori Yamoto, Takuya Hiraide, Tokiko Fukuda, Tadashi Kaname, Kazuhiko Nakabayashi, Kenichiro Hata, Tsutomu Ogata, Hirotomo Saitsu, Naomichi Matsumoto.

Publication Date: January 17, 2019

Research Explained By: Brad Davidson, CSNK2A1 Foundation Science Communication Intern

Link to article: https://www.nature.com/articles/s10038-018-0559-z

Research Explained Summary:

This case report describes four patients with neurodevelopmental disorders, united by their recurrent seizures. Two of these patients were confirmed to have OCNDS, while the other two have Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS). These disorders are caused by mutations in the CSNK2A1 (OCNDS) and CSNK2B (POBINDS) genes, which encode the proteins CK2α and CK2β. Genes are the molecular blueprint for proteins, which perform functions required for life. These proteins bind to each other and create a larger complex of proteins known simply as CK2. CK2 is an enzyme, meaning that it facilitates chemical reactions in a cell, potentially affecting many other proteins – CK2α performs these chemical reactions, while CK2β helps regulate the function of CK2 overall. The authors describe these patients in depth and review previously published cases to draw conclusions about what unites and separates these two diseases. Here, we will focus on their description of the patients with OCNDS.

The two patients with OCNDS had global developmental delay, muscle weakness (hypotonia), and seizures. However, their other symptoms were overall different. One patient had aberrant facial and brain structures, short stature, and progressive muscle weakness that eventually led to respiratory failure. Afterwards, this patient always required a ventilator and a wheelchair. The second patient had more frequent seizures that lead to brain death at 1 year and 7 months of age, even though they had no obvious facial or brain structural issues like the first patient. These patients were found to have two different mutations in the CSNK2A1 gene. The differences in symptoms between these patients may be in part due to these different mutations, although most symptoms of OCNDS do not correlate well with any specific mutation patients have displayed. The first patient had the most common OCNDS mutation currently known, termed “p.K198R”, whereas the second patient with severe seizures had a mutation known as “p.R191*.”

When comparing these patients with previously published reports of OCNDS, every OCNDS patient was found to have developmental delay (28/28), while many had intellectual disabilities (26/28) and hypotonia (muscle weakness – 20/28). These traits were often, but not always, accompanied by issues moving, autistic traits, sleep problems, short stature, gastrointestinal issues, cardiac abnormalities, and seizures, among other symptoms. To date, the condition of the second patient with recurrent seizures who passed away at the age of 1 year and 7 months is the most severe OCNDS case reported, although both patients experienced severe symptoms.

Research Explained: Are CSNK2A1 gene mutations associated with retinal dystrophy? Report of a patient carrier of a novel de novo splice mutation

Tue, 27 Aug 2024 15:46:40 GMT

Authors: Davide Colavito, Elda Del Giudice, Chiara Ceccato, Maurizio Dalle-Carbonare, Alberta Leon, Agnese Suppiei

Publication Date: March 22, 2018

Research Explained By: Brad Davidson, CSNK2A1 Foundation Science Communication Intern

Link to article: https://www.nature.com/articles/s10038-018-0434-y

Research Explained Summary:

This article reports on a patient with OCNDS whose first presentation was isolated retinal dystrophy, or progressive dysfunction of the retina and therefore, vision. This is the first instance where vision problems were the primary symptom that brought the patient into the clinic and resulted in an OCNDS diagnosis.

At birth, the patient showed no evidence of any disabilities that might have indicated OCNDS or other disorders. However, at four months of age, the patient was admitted to a hospital for suspected low vision and infantile nystagmus, a condition where the patient’s eyes rapidly and involuntarily shake in a horizontal or vertical direction. After doctors examined the individual, a diagnosis of isolated Leber’s congenital amaurosis was reached, which is a family of conditions that include varying degrees of severe vision loss at an early age. The doctors also initiated genetic testing to determine the cause, as this disease is primarily a genetic disorder. By 10 months of age, the patient was displaying symptoms more typical of OCNDS, including poor muscle tone (hypotonia), poor muscle control (ataxia), sleep disturbances, and general failure to reach psychological and motor milestones expected for normal development.

Genetic results showed a c.1061-1G>C mutation in CSNK2A1, the gene whose mutation causes OCNDS. This was the first report of an OCNDS patient with retinal dystrophy. This case report highlights that ocular/retinal symptoms of OCNDs should be monitored and might be more common than previously thought.

Research Explained: A case of Okur-Chung syndrome caused by CSNK2A1 gene variation and review of literature

Tue, 27 Aug 2024 15:45:03 GMT

Authors: H L Duan, J Peng, N Pang, S M Chen, J Xiong, S Q Guang, F Yin

Publication Date: May 2019

Link to article: https://pubmed.ncbi.nlm.nih.gov/31060130/

Research Explained Summary:

This publication is a case report of an individual with OCNDS that has the c.524A>G (p.D175G) variant in the CSNK2A1 gene and is the first report of OCNDS in the mainland of China. The patient was a 1 year and 8-month-old boy with symptoms that included microcephalus (small head), broad nasal bridge, micrognathia (small lower jaw), and hypotonia. The authors then summarized the clinical findings of OCNDS at the time of publication, which included mostly individuals with missense changes (a genetic alteration that occurs when a single base pair in DNA is substituted, resulting in a different amino acid being incorporated into a protein) in the CSNK2A1 gene, with the K198R change being the most common.

Research Explained: Identification of a novel de novo variant of CSNK2A1 gene in a boy with Okur-Chung neurodevelopmental syndrome

Tue, 27 Aug 2024 15:42:50 GMT

Authors: Ruohao Wu, Wenting Tang, Liyang Liang, Xiaojuan Li, Nengtai Ouyang, Zhe Meng

Publication Date: June 10, 2020

Link to article: https://rs.yiigle.com/cmaid/1202672

Research Explained Summary:

This publication is a case study on an individual with OCNDS that has the c.149A>G (p. Tyr50Cys) variant in the CSNK2A1 gene. At the time of publication, this variant had not yet been reported. Research showed that this specific part of the gene has been highly conserved across species and that this DNA change was predicted change of the original spatial structure of CK2α protein and the loss of the original protein function.

Research Explained: Report of an Asian-Indian patient with Okur-Chung Syndrome and comparison of the clinical phenotype in different ethnic groups

Tue, 27 Aug 2024 15:41:31 GMT

Authors: Priya Ranganath, Prajnya Ranganath, V S Vineeth, Ashwin Dalal, Siddaramappa J Patil

Publication Date: 2021

Research Explained By: Gabrielle Rushing, PhD, Science Program Director

Link to article: https://irp.cdn-website.com/5b9bc46f/files/uploaded/report_of_an_asian_indian_patient_with_okur_chung.12.pdf

Research Explained Summary:

This publication is a case report of a 6-year-old female with OCNDS that is of Asian-Indian origin. She presented with symptoms not previously reported for individuals with the p.Arg47Gln (R47Q) variant in the CSNK2A1 gene including a frontal upsweep with unusual patterning of scalp hairs, breath-holding spells, and talipes equinovarus (club foot). The authors noted that 3 other individuals with the same genetic variant also had facial dysmorphology including hypertelorism (abnormally increased distance between the eyes), arched eyebrows, low-set ears, and retrognathia (abnormal posterior positioning of the jaw). By publishing this report, the authors expanded knowledge about the symptom presentation across different ethnicities and helps define the presentation of individuals with the specific R47Q variant.

Research Explained: Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study (2023)

Tue, 27 Aug 2024 15:38:22 GMT

Authors: Raja Brauner, Joelle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey

Publication Date: December 14, 2023

Research Explained By: Gabrielle Rushing, PhD, Science Program Director

Link to Paper: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0292664

Research Explained Summary:

The authors sequenced the DNA of individuals who had a rare disorder called Pituitary stalk interruption syndrome (PSIS), a condition that affects the pituitary gland, a crucial organ in the brain that regulates various hormones. They wanted to learn more about the potential genetic causes of PSIS. In individuals with PSIS, the pituitary stalk, a structure connecting the brain to the pituitary gland, is abnormally formed or absent. This disruption leads to hormonal deficiencies, including growth hormone (GH) deficiency, impacting growth, reproduction, and other bodily functions. Diagnosis often involves imaging studies, and management typically requires lifelong hormone replacement therapy to address the hormonal imbalances caused by the syndrome.

The results of sequencing identified a single patient with Okur-Chung Neurodevelopmental Syndrome (OCNDS), harboring the most common CSNK2A1 missense variant, K198R. The child had the typical clinical phenotype of OCNDS including hypotonia, autism, and delay in the ability to walk. Major conclusions from this publication include the suggestion that obtaining a genetic diagnosis in cases of isolated PSIS will remain challenging and that PSIS is a disorder that should be considered when analyzing the full phenotypic spectrum of OCNDs in future studies.

Research Explained: Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review

Tue, 27 Aug 2024 15:24:17 GMT

Authors: Hossein Jafari Khamirani, Sina Zoghi, Ali Motealleh, Mehdi Dianatpour, Seyed Mohammad Bagher Tabei, Sanaz Mohammadi, Seyed Alireza Dastgheib

Publication Date: March 31, 2022

Research Explained By: Brad Davidson, CSNK2A1 Foundation Science Communication Intern

Link to article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9801326/

Research Explained Summary:

This case report presents an OCNDS patient who displayed regular seizures, an atypical characteristic for those with OCNDS. The patient presented to the clinic at age 8 due to cognitive, motor, and language developmental delays. At this time, the parents reported severe sleep issues and several episodeclinics of two different forms of seizures, known as myotonic and atonic. These seizures manifest differently: myotonic seizures are characterized by twitching and jerking of the arms and legs, whereas atonic seizures are characterized by a loss of muscle control and/or tension. Other OCNDS symptoms included behavioral issues, autism spectrum disorder, short stature, and muscle weakness (hypotonia). She also displayed poor dental development, although this had not yet been associated with OCNDS.

Previously, the patient had been diagnosed with a urea cycle disorder, which causes toxic substances normally excreted through urination to build up in the bloodstream. As a result of this, genetic testing was performed revealing a mutation in the CSNK2A1 gene causative of OCNDS. When later tested again to confirm the urea cycle disorder, the test came back normal. She was being treated for this disorder but discontinued the treatment upon this finding.

The authors also reviewed all 33 previously reported OCNDS cases, ranking the relevance of specific symptoms. Developmental delay was reported in all cases, although with great variability in severity. Most patients displayed speech delays, intellectual disability, and dysmorphic facial features. Only 9/31 patients included in this portion of the review were determined to have had seizures, and this patient is the only to have been reported to have two different kinds of seizures. This report displays the great variability present between OCNDS patients.

Research Explained: Identification of Novel CSNK2A1 variants and the genotype-phenotype relationship in patients with Okur-Chung neurodevelopmental syndrome

Tue, 27 Aug 2024 15:21:01 GMT

Identification of novel CSNK2A1 variants and the genotype–phenotype relationship in patients with Okur–Chung neurodevelopmental syndrome: a case report and systematic literature review

Authors: Ruo-Hao Wu, Wen-ting Tang, Kun-yin Qiu, Xiao-juan Li, Dan-xia Tang, Zhe Meng, Zhan-wen He

Publication Date: May 26, 2021

Research Explained By: Brad Davidson, CSNK2A1 Foundation Science Communication Intern

Link to article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8161887/

Research Explained Summary:

This case report profiles two new OCNDS patients, then expands to broadly review the literature of all reported OCNDS patients to identify potential correlations between each patient’s specific genetic mutations and any symptoms they experience.

The first patient arrived at the clinic at age 3 with severe growth retardation and recurrent febrile seizures . Her development in terms of movement and speaking occurred at a normal pace, but she had her first febrile seizure at nine months of age, experiencing a total of five episodes. All the seizures went away on their own and didn’t require treatment. During her initial consultation, other reported abnormalities included a smaller than usual pituitary gland (a gland which regulates most hormones in the body), and mild immunodeficiency. The second patient arrived at the clinic at age 2, also with major growth delay. This patient’s developmental milestones were severely delayed – she could not yet sit, stand, or speak. However, unlike the first patient, she had a perfectly functioning immune system.

Genetic testing was performed on both patients, finding mutations in the CSNK2A1 gene. Each patient had a different mutation, with the first patient having p.H160R, while the second had p.R80C. Both mutations were predicted to be the major cause of their symptoms. A full search of the OCNDS literature revealed 35 patients with detailed workups. The authors tried to link specific mutations found in CSNK2A1 to specific manifestations of OCNDS. The only connection they were able to find was mutations in a specific domain of the CSNK2A1 gene known as the “ATP/GTP binding-loop" were more likely to lead to multi-organ abnormalities, although these symptoms weren’t necessarily more severe. This study further illustrates the wide variety of manifestations of OCNDS and confirms the lack of a strong correlation between what mutation a patient has with their symptoms.

Research Explained: Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report

Tue, 27 Aug 2024 15:17:32 GMT

Authors: Shanshan Xu, Jinzhun Wu, Lingli Lu, and Jia Song.

Publication Date: August 3, 2020

Research Explained By: Brad Davidson, CSNK2A1 Foundation Science Communication Intern

Link to article: https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-020-01096-w

Research Explained Summary:

This case report describes the co-occurrence of two genetic diseases in one patient, including both OCNDS and tricho-rhino-phalangeal syndrome (TRPS). It also follows the clinical analysis of both parents of the patient to determine the origins of these two rare diseases. The patient first presented to a pediatric endocrinology clinic at almost 7 years old with short stature and developmental delay. Upon presentation, he displayed sparse scalp hair, short stature, and severe intellectual disability, although many blood tests for various physiological variables were normal otherwise. Prior to this, he suffered from developmental delays including walking for the first time and speaking at 4 years of age. He started school at 6 years old but couldn’t communicate with the other children.

Genetic testing revealed two mutations that could be disease causing, one in the CSNK2A1 gene (the K198R mutation, the most common in OCNDS), and the TRPS1 gene. The patient’s father has a mild intellectual disability and short stature. Upon genetic testing, the father was found to have the same CSNK2A1 gene mutation as the patient, indicating that the patient inherited it from his father. His mother has sparse scalp hair, short stature, and facial features characteristic of TRPS. Via genetic testing, the mother was found to have the same mutation as the patient in the TRPS1 gene, indicating that the patient inherited TRPS from his mother. Both TRPS and OCNDS present variably in individual patients, although both diseases are characterized by short stature – the patient described herein was extremely short, likely due to a combination of both diseases. This report is the first to describe OCNDS coinciding with another rare disease.

Research Explained: Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome

Tue, 27 Aug 2024 15:13:26 GMT

Authors: Moe Akahira-Azuma, Yoshinori Tsurusaki, Yumi Enomoto, Jun Mitsui, Kenji Kurosawa

Publication Date: March 29, 2018

Research Explained By: Brad Davidson, CSNK2A1 Foundation Science Communication Intern

Link to article: https://www.nature.com/articles/hgv201811

Research Explained Summary:

This case report described a Japanese male OCNDS patient conceived through in vitro fertilization (IVF) with distinctive features separating them from previously described patients, including specific facial features, a friendly and interactive disposition, and macrocephaly (brain/head larger than is typical). This patient was referred to a clinic at 2 years and 10 months of age for a genetic evaluation. At this time, he was nonverbal and was not walking without support. However, he started walking without support at 3 years old, and said his first meaningful words at the age of 6 years. He started school at 7 years old, which rapidly improved his speech to the point where he could answer simple questions but not express complex thoughts.

Genetic testing was performed, and a mutation (specifically c.593A>G or p.K198R) in the CSNK2A1 gene was found, causative of OCNDS. The authors compared their patient’s specific symptoms with those found in other neurodevelopmental disorders further indicating the variety of symptoms OCNDS patients might display also appear in other disorders.

Pop-up definition: In vitro fertilization (IVF) is a medical procedure that helps some people have babies when they have difficulty doing so naturally. Instead of the baby forming inside the mother's body, like in a natural pregnancy, IVF happens outside the body. [BC1]

Here's how it works: Eggs are taken from a woman's ovaries and sperm from a man, and they are combined in a lab dish. When the egg and sperm meet and create an embryo, the doctors put that embryo back into the woman's uterus. If everything goes well, the embryo can grow into a baby inside the mother, just like a regular pregnancy.

Research Explained: Extending the phenotype associated with the CSNK2A1-related Okur-Chung Syndrome – A clinical study of 11 individuals

Tue, 27 Aug 2024 15:10:47 GMT

Authors: Ceris I. Owen, Ramsay Bowden, Michael J. Parker, Jo Patterson, Joan Patterson, Sue Price, Ajoy Sarkar, Bruce Castle, Charulatha Deshpande, Miranda Splitt, Neeti Ghali, John Dean, Andrew J. Green, Charlene Crosby, Deciphering Developmental Disorders Study, and Katrina Tatton-Brown.

Publication Date: December 16th, 2017

Research Explained By: Brad Davidson, CSNK2A1 Foundation Science Communication Intern

Link to article: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.38610

Research Explained Summary:

Patients with a developmental disorder identified by the Deciphering Developmental Disorders Study at the Wellcome Trust Sanger Institute were genetically sequenced, and 11 were identified to have mutations in the CSNK2A1 gene, causative of OCNDS. Eight distinct mutations were found in these 11 patients, which were not found in the general population, the rest of their developmental disorder cohort, or the parents of the individual children. This indicates that these mutations are de novo, meaning that these mutations weren’t inherited from the child’s parents, but instead occur only in the children.

Clinical features were analyzed, with the most frequently reported being intellectual disability at varying levels. Overall, the average amount of time it took for patients to start sitting without help, walking, or speaking were 11.5 months, 30.5 months, and 44 months respectively, which is significantly delayed from typical development. Other commonly observed manifestations included muscle weakness (hypotonia), behavioral issues, swallowing difficulties, short stature, small head/brain size (microcephaly) and heart defects. Although previous studies have reported characteristic facial features, this study indicated that while there were some recurrent features, these were not significantly indicative of OCNDS.

Together with previous work, this study increases both the number of known OCNDS cases and validates symptoms found in previous cohorts and individuals. Particularly, this study indicates that cardiac dysfunction should be evaluated in OCNDS patients, a trait which hadn’t been seen before, further highlighting the differences across individuals with OCNDS.

Research Explained: Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

Tue, 27 Aug 2024 15:03:46 GMT

Authors: A. T. G Chiu, S. L. C. Pei, C. C. Y. Mak, G. K. C. Leung, M. H. C. Yu, S. L. Lee, M. Vreeburg, R. Pfundt, I. van der Burgt, T. Kleefstra, T. M. T. Frederic, S. Nambot, L. Faivre, A. L. Bruel, M. Rossi, B. Isidor, S. Küry, B. Cogne, T. Besnard, M. Willems, M. R. F. Reijnders, and B. H. Y. Chung

Publication Date: December 10th, 2017

Research Explained By: Brad Davidson, CSNK2A1 Foundation Science Communication Intern

Link to article: https://onlinelibrary.wiley.com/doi/10.1111/cge.13196

Research Explained Summary:

In this case series, eight new patients with OCNDS were identified. The authors analyzed the symptoms present in these patients and combined their analysis with that of six previously characterized patients to create a better summary of what defines OCNDS. Specifically, 13/14 patients displayed intellectual disability. However, one patient entered school and their performance was assessed to be above average. Autism, sleep disorders, excessive temper tantrums, muscle weakness (hypotonia), and physical brain abnormalities were the most common neurodevelopmental symptoms found. Other common traits included failure to thrive , short stature, skin abnormalities, gastrointestinal issues, and immunological issues. In terms of characteristic facial features, microcephaly (small brain/head) was very common with 8/14 patients displaying this, while other features such as a round face, broad nose, and low-set ears were reported but were less common.

The genetic mutations present in OCNDS were also evaluated, including a total of 22 subjects across 4 studies reported to the date of publication of this paper. All mutations causing OCNDS were found in the CSNK2A1 gene, with most of them in an area of the gene that translates to a region known as the “protein kinase domain” of the protein that CSNK2A1 encodes, CK2α. Only two mutations found in these 22 patients fall outside of this specific region, indicating its importance for both proper function of the gene and overall human development. The most common mutation found among this cohort is called p.K198R and it is within this region.

Together, this study reported 8 new patients diagnosed with OCNDS and performed an analysis of all symptoms and genetic mutations found to date. The authors recommend that patients with OCNDS be seen by a clinical geneticist and receive comprehensive assessment from a multidisciplinary team including physiotherapists, occupational therapists, speech therapists, and clinical psychologists.

Pop-up definition: Failure to thrive (FTT) is a term used in healthcare to describe a condition in which a child, typically an infant or young child, is not growing or developing as expected for their age. [BC1]

Research Explained: Caregiver-reported dental manifestations in individuals with genetic neurodevelopmental disorders (2023)

Tue, 27 Aug 2024 14:58:45 GMT

Authors: Neil R. Ming, Deanna Noble, Steven Chussid, Alban Ziegler, Wendy K. Chung

Publication Date: July 4, 2023

Research Explained By: Brad Davidson, CSNK2A1 Foundation Science Communication Intern 

Research Explained Summary:

This study surveyed a wide variety of patients with neurodevelopmental disorders through an online questionnaire through Simons Searchlight, a natural history study supported by the Simons Foundation. The study records data from medical records and captures caregiver responses about patients with neurodevelopmental disorders, including OCNDS. Oral health is an important area of study, as many individuals with neurodevelopmental disorders have poor oral hygiene and broader dental abnormalities.

620 caregiver responses to the survey were recorded across 39 genetic neurodevelopmental disorders, with most surveys completed on behalf of children. 145 siblings of these patients without neurodevelopmental disorders served as a group to compare any findings against. Overall, the patients with neurodevelopmental disorders were found to display increased drooling, difficulty receiving dental care, late arrival of baby teeth, and abnormal growth of both baby and permanent teeth.

Among the 39 genetic disorders tested, only patients in four groups, including OCNDS, were found to be more likely to have any specific dental issues when compared to the sibling control group. Of note, OCNDS was found to be associated with an increase in anomalies found in baby teeth, including long incisors, cracked teeth, missing enamel, small teeth, and fused teeth. Importantly, this is the first time that OCNDS has been associated with abnormal tooth development, indicating a potentially unmet need for improved dental care and surveillance in OCNDS patients.

Research Explained: A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features

Tue, 27 Aug 2024 14:44:26 GMT

Authors: Joanne Trinh, Irina Hϋning, Nadja Budler, Volker Hingst, Katja Lohmann, Gabrielle Gillessen-Kaesbach.

Publication Date: July 20, 2017

Research Explained By: Brad Davidson, CSNK2A1 Foundation Science Communication Intern

Link to article: https://www.nature.com/articles/jhg201773

Research Explained Summary:

This case report identifies and describes a 7-year-old German boy with OCNDS. At birth, doctors suspected a neurodevelopmental disorder, initially anticipating Down syndrome. Microcephaly (small head/brain) became an obvious sign as the child grew, and motor and speech development were delayed to 2 and 3 years of age respectively. At the last check-up reported, microcephaly and global developmental and intellectual delays were still apparent. Sleep disturbances and hyperactive behavior were reported by the parents, and diagnostic tests showed that the patient underperformed in terms of social responsiveness and sensorimotor function, among other categories.

These symptoms elicited genetic testing of the patient and his unaffected parents. Two novel and potentially causative mutations were found, one in the CSNK2A1 gene and one in the STAT2 gene. Both mutations were de novo, or only present in the patient, indicating this might be what differentiated the parents from their atypically developing son. At the time, STAT2 was known to biologically be involved in neurologic processes, although these studies were not confirmed in human patients. However, the CSNK2A1 gene had just been discovered as the causative gene for OCNDS, leading to an OCNDS diagnosis. This case report continued to illustrate the vast number of manifestations OCNDS can cause in different patients.

Research Explained: De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features

Tue, 27 Aug 2024 14:42:42 GMT

Authors: Volkan Okur, Megan Cho, Lindsay Henderson, Kyle Retterer, Michael Schneider, Shannon Sattler, Dmitriy Niyazov, Meron Azage, Sharon Smith, Jonathan Picker, Sharyn Lincoln, Mark Tarnopolsky, Lauren Brady, Hans Bjornsson, Carolyn Applegate, Amy Dameron, Rebecca Willaert, Berivan Baskin, Jane Juusola, and Wendy Chung.

Publication Date: March 23, 2016

Research Explained By: Brad Davidson, CSNK2A1 Foundation Science Communication Intern

Link to article: https://link.springer.com/article/10.1007/s00439-016-1661-y

Research Explained Summary:

This study was the first to identify OCNDS as a distinct neurodevelopmental disorder (NDD) with causative mutations in the CSNK2A1 gene, setting it apart from other NDDs. Genetic sequencing of 4,102 pediatric patients with intellectual disability and/or developmental delay had already been performed, and within those patients, five were identified as having mutations in the CSNK2A1 gene with a unifying set of symptoms that have now come to define OCNDS. Mutations were found throughout the CSNK2A1 gene, with a different mutation in each individual reported. The mutations were defined as likely loss-of-function mutations, meaning that the mutation prevented normal function of this gene. The mutations were also heterozygous, meaning that among the two copies every individual has of each gene, only one copy was altered.

All patients identified in this study were female, although later studies would come to find male patients with OCNDS. All patients had developmental delay, while 4/5 showed a variety of symptoms including intellectual disability, behavioral issues, muscle weakness (hypotonia), speech issues, gastrointestinal issues, and dysmorphic facial features. 3/5 patients displayed decreased brain/head size (microcephaly), as well as musculoskeletal and immune issues. All these symptoms and their severity were highly variable between patients, but together formed a constellation of symptoms specific to OCNDS.

The CSNK2A1 gene encodes part of a protein known as CK2, which is involved in a variety of important biological processes including embryonic development and cell growth/survival. Specifically, it was already known that mice lacking both copies of this gene (which is not seen in humans, as OCNDS patients only have changes on one copy) do not survive long enough to be born. The authors go on to discuss the different ways each mutation might lead to dysfunction of the CK2 protein on a molecular level. Together, this paper defined for the first time that OCNDS is a neurodevelopmental disorder characterized by specific traits and is caused by mutations in the CSNK2A1 gene.

Research Explained: Patient organization perspective: a research roadmap for Okur-Chung Neurodevelopmental Syndrome

Sat, 24 Aug 2024 01:15:42 GMT

Authors: Gabrielle V. Rushing and Jennifer Sills

Publication Date: July 25, 2024

Research Explained By: Gabrielle Rushing, PhD, CSNK2A1 Foundation Science Program Director

Link to article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11273705/

Research Explained Summary:

Patient organization perspective: a research roadmap for Okur-Chung Neurodevelopmental Syndrome Plain Language Summary

Okur-Chung Neurodevelopmental Syndrome (OCNDS) is an ultra-rare disorder caused by variants in the CSNK2A1 gene.
CSNK2A1 creates a subunit of CK2, a critical protein in brain development among other biological processes.
There are no approved treatments for OCNDS, and current suggested treatments focus on symptom management.
Individuals with OCNDS exhibit many symptoms at varying severity levels, including developmental delay/intellectual disabilities, autism, disrupted sleep, speech delays/inability to speak, short stature, and in approximately 25% of cases, epilepsy. We think that seizure prevalence may be underreported due to lack of extended EEG recordings for OCNDS patients and that seizures may preferentially occur at night as has been observed in other autism spectrum disorders.
The CSNK2A1 Foundation was established in 2018 and aims to find a cure for OCNDS and provide support to affected individuals. The CSNK2A1 Foundation’s research tools and efforts have provided valuable insights into the biology of OCNDS and the natural history of the disorder. However, additional efforts are needed to fully understand how OCNDS affects the body and investigate potential treatment approaches.
To accelerate OCNDS research, the foundation has developed a research roadmap that is presented in this perspective article. We describe OCNDS and the CSNK2A1 gene, highlight gaps in OCNDS research, discuss the research roadmap, and offer the founder’s perspective on our growth and future opportunities.

Research Explained: Persistent hyperplastic primary vitreous with microphthalmia and coloboma in a patient with Okur-Chung Neurodevelopmental Syndrome

Sat, 24 Aug 2024 00:33:36 GMT

Authors: Hiroaki Murakami, Tomoko Uehara, Yumi Enomoto, Naoto Nishimura, Tatsuro Kumaki, Yukiko Kuroda, Mizuki Asano, Noriko Aida, Kenjiro Kosaki, Kenji Kurosawa.

Publication Date: September 22, 2021

Research Explained By: Brad Davidson, CSNK2A1 Foundation Science Communication Intern

Link to article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8832215/

Research Explained Summary:

This case report profiled a 5-year-old OCNDS patient whose distinguishing feature was their ocular symptoms. The patient was initially referred to an eye clinic at one month of age, as he had never opened his eyes. While brain MRI showed no abnormalities, an examination of the eyes revealed a variety of malformations, including bilateral persistent hyperplastic primary vitreous (PHPV), which leaves the patient with extra blood vessels in their eyes, potentially causing vision impairment in the future. The patient also had abnormally small eyes (microphthalmia) and missing tissue in the eye (coloboma).

By age 2, broader developmental delays were evident, including developing head control at 6 months of age, crawling at 16 months, walking at 17 months, and speaking at 24 months. He also displayed various behavioral issues including restlessness and hyperactivity. As a result of this constellation of symptoms, genetic testing was performed, identifying a mutation in the CSNK2A1 gene known as p.Arg107*, indicative of OCNDS. This is only the second report of abnormal eye development in OCNDS and was much more severe than the initial report of a patient who only had retinal abnormalities. The researchers concluded that the wide variability of manifestations of OCNDS and the sparse appearance of ocular symptoms make it difficult to add poor eye development to the list of OCNDS symptoms, although future cases may clarify this potential link.

Research Explained: Okur-Chung neurodevelopmental syndrome in a patient from Spain

Sat, 24 Aug 2024 00:12:06 GMT

Authors:

Antonio F. Martinez-Monseny, Dídac Casas-Alba, César Arjona, Mercè Bolasell, Paula Casano, Jordi Muchart, Federico Ramos, Loreto Martorell, Francesc Palau, Alfredo García-Alix, Mercedes Serrano.

Publication Date: November 15 ^th , 2019

Research Explained By: Brad Davidson, CSNK2A1 Foundation Science Communication Intern

Link to article: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.61405

Research Explained Summary:

In this case report, a 5-year-old female patient from Spain with OCNDS was described. As a newborn, there were no obvious symptoms of OCNDS, however, she did have some facial characteristics of a midline defect, an issue that occurs during fetal development where organs and structures along the center of the body sometimes split into two or duplicate. The patient was found to have a kidney with two ureters (two tubes that carry urine to the bladder) and two pituitary glands (a pea-sized gland at the base of the brain that controls hormone levels throughout the body) instead of the typical one. In addition, she lacked a sense of smell and had duplicated vertebrae in her neck.

During follow-up examinations, this patient displayed failure to thrive ,short stature, poor bone development, and delays in the ability to sit or stand. By the age of 6 she was not able to speak well but was integrated into mainstream schooling. She also had feeding issues, with mild problems swallowing and an inability to chew food.

Genetic testing was run to determine the cause of these various. A specific mutation in the CSNK2A1 gene known as “p.Y50C” was found in the test results, which was computationally predicted to disrupt the function of the protein and cause OCNDS. A similar mutation had previously been found in another patient, known as “p.Y50S,” indicating that this mutation was likely the reason for the patient’s condition. However, midline defects and many of the other symptoms associated with this patient have not classically been associated with OCNDS, including her duplicated pituitary gland and vertebrae as well as her absence of smell. In fact, no genetic cause of a duplicated pituitary gland had ever been described until this patient. The doctors concluded that this might be more common among OCNDS patients than expected as it is easy to miss on an MRI and suggested that midline abnormalities may be a potential sign of OCNDS to look for in the future.

Research Explained: Improvement of variant reclassification in genetic neurodevelopmental conditions

Fri, 23 Aug 2024 23:53:18 GMT

Authors: Michelle Kowanda, Rebecca Sheedy Smith, Jamie Lundy, Catherine Kentros,

Elisheva Kleinman, Lauren Kasparson Walsh, Gerhard Schratt, Cora M. Taylor, Wendy K. Chung

Publication Date: April 8, 2024

Research Explained By: Gabrielle Rushing , PhD, Science Program Director

Research Simplified Summary:

This research paper focuses on the reclassification of genetic variants in neurodevelopmental conditions. Variants are changes in the letters of our DNA that can affect our health – you can think of a variant like a misspelled work in the ‘DNA instruction book’. In some cases, the classification of these variants as either harmful (e.g., pathogenic/likely pathogenic) or benign can change over time as new evidence emerges. Sometimes variants are classified as ‘variants of uncertain significance’ or ‘VUS’ meaning that scientists need more information to decide how to classify them.

This study looked at the reclassification of VUS in a large group of rare diseases that affect brain development enrolled in Simons Searchlight, including OCNDS. The researchers found that about 20% of the variants were reclassified, with some being upgraded to a more harmful classification and others being downgraded to a less harmful classification. They interpreted classification using existing published research, analyzing DNA from family members, and used the variant reinterpretation guidelines tool from the American College of Medical Genetics and Genomics. The study found that certain genes, such as SCN2A, SLC6A1, and STXBP1, were more likely to have their variants reclassified.

For the CSNK2A1 gene, the authors found 13 individuals with a VUS in Simons Searchlight. Out of these 13, 6 were reclassified as pathogenic or likely pathogenic. Regular reevaluation of genetic variants is important because it can affect clinical care and help researchers better understand these conditions. The study also highlighted the need for more diverse representation in genetic databases to ensure equitable healthcare for all populations.

Research Explained: Inherited loss of function variant in CSNK2A1: the oldest reported cases of Okur-Chung syndrome in a single family (2024)

Fri, 23 Aug 2024 23:48:40 GMT

Authors:  Himanshu Goel and Sheridan O’Donnell

Publication Date: May 31, 2024

Research Explained By:   Gabrielle Rushing , PhD, Science Program Director 

Research Simplified Summary:

This publication describes a family where two members have the same genetic change in the CSNK2A1 gene, causing OCNDS. This case report is unique as it presents the oldest known individual known living with OCNDS; specifically, the mother is 68 years old, and her son is 42 years old. Both individuals have the c.904del (p. Asp302Thrfs*27) change in the CSNK2A1 gene, which is a deletion that shifts the CSNK2A1 sequence out of alignment, resulting in a jumbled sequence that creates a protein that doesn’t function as it should.

The mother had a history of learning difficulties and likely mild intellectual disability. The son had a history of depression, chronic headache, aggression, vision problems, poor coordination, and facial abnormalities. The mother shared some of the facial abnormalities. A newly reported symptom in OCNDS in this publication was cryptorchidism - a condition in which one or both of the testes fail to descend from the abdomen into the scrotum. The foundation has heard of one other instance of this in an OCNDS patient, but this is the first publication recording this symptom. He had mild to moderate intellectual disability and was employed as a physical laborer by a vocational service.

This publication is important as it highlights the oldest known OCNDS patient to date, presents an additional case of OCNDS being inherited, provides new insights into OCNDS symptoms, and provides examples of OCNDS patients in adulthood.

Research Explained: Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur–Chung neurodevelopmental syndrome (2024)

Fri, 23 Aug 2024 23:42:07 GMT

Authors: Albin Blanc, Céline Bonnet, Marion Wandzel, Virginie Roth, Yannis Duffourd, Hanna Safraou, Bruno Leheup, Florence Muller, Julie D Colne, François Feillet, Emmanuelle Schmitt, Matheus Castro, Jullian Savatt, Adriano Burcheri, Christophe Nemos, Christophe Philippe, Laëtitia Lambert

Publication Date: May 6, 2024

Research Explained By: Gabrielle Rushing, PhD, Science Program Director

Research Simplified Summary:

This publication describes a 7-year-old male in France with a CSNK2A1 Arg47Gln (R47Q) variant, known to cause Okur-Chung Neurodevelopmental Syndrome (OCNDS). The authors describe novel features that are potentially associated with OCNDS, including:

Clubfeet (a common birth defect affecting muscles and bones in the feet causing the foot to point down and turn in)
Exotropia (a type of strabismus, or eye misalignment where one eye deviates outward), and
Peg lateral incisor teeth (a condition where the second tooth on either side of the front teeth does not develop correctly and is small, pointed, and looks like a cone

The authors propose that this case report may extend the phenotypic spectrum (which symptoms present) in OCNDS. Strabismus (eye misalignment) has been mentioned as a rare symptom in a previous Gene Review publication by Dr. Okur and Dr. Chung. Other dental malformations have recently been described in OCNDS including long incisors, cracked teeth, missing enamel, small teeth, and fused teeth.

One limitation of this case study is that the child inherited a duplication (a type of mutation that involves the production of one or more copies of a gene or region of a chromosome) of genetic material on a different chromosome than CSNK2A1, but this duplication is currently classified as a variant of uncertain significance, meaning that we don’t have enough evidence to tell if this DNA change contributes to the symptoms that present in the child. Further research is needed to determine if specific symptoms correlate with specific changes in the CSNK2A1 gene and if the symptoms reported in this case study are more prevalent in the OCNDS population.

Project: Drug Prediction using RNA from Human Nasal Swabs

Fri, 23 Aug 2024 05:07:06 GMT

Lead Investigator: Unravel Biosciences

Unravel Biosciences is the first rapid prototyping therapeutics company, integrating AI systems biology computation with rapid in vivo screening and clinical validation of discovered targets with unprecedented efficiency. Unravel leverages its proprietary BioNAV™ platform combining target and drug discovery, preclinical screening and patient stratification to find treatments for complex diseases. Unravel's platform has led to four clinical trials starting in 2024. Unravel's platform developed RVL002, a first-in-class new small molecule targeting mitochondrial metabolism, and RVL027, a molecule targeting a novel mechanism to treat dystonias. The rareSHIFT™ program provides platform access to foundation and biotech partners to accelerate and clinically derisk therapeutics. unravel.bio and rareshift.org

Grant Details:

Project funded for 1 year starting in 2024 for a total of $43,000.

Aims of Grant:

Unravel will collect nasal swabs from 10 families (swabs from individuals with OCNDS and a sex-matched relative control, such as a parent or sibling). They will generate RNA sequencing data from the nasal swabs that will be used to predict drugs and therapeutic mechanisms using the BioNAV™ platform. Resulting predictions will be compared against results of the mouse drug prediction task to further narrow the predicted drugs for subsequent screening. This will generate the first primary clinical molecular dataset for CSNK2A1. For this pilot grant, individuals with the most common mutation in CSNK2A1 (K198R) will be analyzed.

Project: Investigating CK2 Activity Across OCNDS Mutations and Disease Models

Tue, 13 Aug 2024 09:40:03 GMT

Lead Investigator: Dr. Heike Rebholz, Ph.D.

Dr. Rebholz is an eminent neuroscientist and biochemist based in Paris, France at the Institute of Psychiatry and Neuroscience of Paris. Dr. Rebholz studies the communication between specific subtypes of brain cells, called serotonergic and dopaminergic neurons. She is a leading expert in the role of the protein CK2, partially encoded by the gene CSNK2A1 .

Grant Details:

Project funded for 4 years starting in 2018 for a total of $176,000.

Aims of Grant:

Through this work, Dr. Rebholz and her team seek to deeply profile the biochemical and molecular effects of 15 mutations in the gene CSNK2A1 which have been previously found in OCNDS patients. They will accomplish this by using a variety of models, including cell-free systems, immortalized human cell lines, patient samples, and a mouse model. Thus, this work will characterize the functions of diverse mutations in CSNK2A1 , revealing similarities and differences across disease models.

Published Results from this Grant to Date:

Dominguez et al., 2021. Okur-Chung neurodevelopmental syndrome-linked CK2α variants have reduced kinase activity. Human Genetics 140:1077-1096.

Link to Research Explained

Project: Exploration of OCNDS: Bridging Model Systems, Molecular Mechanisms, and Therapeutic Approaches

Tue, 13 Aug 2024 09:37:55 GMT

Lead Investigators: Dr. Sampath Rangasamy, PhD, Vinodh Narayanan MD, and Matt Huentelman, PhD

The project team at TGen C4RCD is constituted of specialists with an array of diverse expertise. Dr. Sampath Rangasamy is a Research Associate Professor at the Neurogenomics Division and TGen's Center for Rare Childhood Disorders (C4RCD). His research concentrates on elucidating the cellular and molecular mechanisms through the utilization of cell and animal model systems. His research aims to elucidate previously unidentified signaling pathways, innovative targets, and treatments for both rare and common diseases. Dr. Vinodh Narayanan serves as a Clinical Professor and the Medical Director at C4RCD. Dr. Narayanan concentrates his research endeavors on the advancement of innovative therapies and cures for childhood neurological conditions. Dr. Narayanan has identified a cohort of patients with OCNDS and in collaboration with Dr. Rangasamy he successfully collected skin biopsies to establish an OCNDS cell biorepository. Dr. Matt Huentelman serves as a Professor and Director of Neurogenomics Division at TGen. Dr. Huentelman's research interests center around the investigation of the “-omics” (genomics, transcriptomics, and proteomics) of neurological traits and disease. His laboratory’s overarching goal is to leverage findings in these disciplines to better understand, diagnose, and treat human diseases of the nervous system. Dr. Huentelman and Dr. Narayanan collaborated to identify the genetic factors underlying rare genetic disorders in pediatric populations at C4RCD. You can learn more about the TGen OCNDS Research Program here .

Grant Details:

Project funded for 2 years starting in 2020 for a total of $180,000.

Aims of Grant:

1. Establishment of Patient-derived Cell line Biorepository for OCNDS Research

The primary goal of this project is to establish a comprehensive cell biorepository for OCNDS caused by CSNK2A1 mutation. This repository will be centered around dermal fibroblast cell lines derived from patients and will serve as a foundational resource for both internal research and external scientific collaborations. The dermal fibroblast cell lines will also enable researchers to delve deeper into the underlying molecular mechanisms of OCNDS. Patient-derived cell lines will be made available for shipment to global collaborators for additional functional work, thus catalyzing international research efforts. By creating this biorepository, we aim to advance our understanding of OCNDS and accelerate the path to the development of effective therapies.

2. Defining the Disease-Specific Cellular Phenotypes in Patient-Derived Cell Lines from OCNDS

This research aims to comprehensively characterize cellular phenotypes unique to OCNDS using dermal fibroblasts and induced pluripotent stem cells (iPSCs). The objective is to identify specific cellular markers or functional characteristics that could serve as phenotypes for high-throughput drug screening and as targets for therapeutic intervention.

3. Elucidating Disease Mechanisms through Phenotypic Characterization of CSNK2A1 Mutations in Zebrafish Models

The research aims to dissect the functional implications of both wild-type and mutant CSNK2A1 mRNA expression in zebrafish embryos. Concurrently, the study will examine the phenotypic outcomes in zebrafish embryos treated with CK2-selective inhibitors to assess their similarity to those induced by mutant CSNK2A1 expression. Through these approaches, the research seeks to illuminate the underlying disease mechanisms associated with CSNK2A1 mutations. Additionally, we will define the impact of different CSNK2A1 mutations on their ability to generate distinct phenotypes, thereby providing more informative data for developing an enhanced preclinical model system that can be sued for drug screening.

Published Results from this Grant to Date:

Preliminary Results posted on BioRXiv:

biorxiv.org/content/10.1101/2024.01.09.574075v1

Dominguez et al., 2021. Okur-Chung neurodevelopmental syndrome-linked CK2α variants have reduced kinase activity. Human Genetics  140:1077-1096 .

Link to Research Explained

Belnap, N, Price-Smith, A, Ramsey, K, et al. Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome. Clinical Genetics. 2023; 1-3. doi:10.1111/cge.14408

Project: Development of Two OCNDS Mouse Models

Tue, 13 Aug 2024 09:29:17 GMT

Contract Awarded to: Taconic Biosciences

Taconic Biosciences is a biotechnology company specializing in the development and distribution of genetically engineered animal models.

Grant Details:

Projected funded for 3 years starting in 2021 for $35,154.

Aims of Grant:

The CSNK2A1 Foundation has contracted Taconic Biosciences to genetically engineer two mouse models of OCNDS using CRISPR-Cas9 gene-editing technology. Upon development, these mice will be available for use by outside researchers and will serve as an invaluable resource for identifying the molecular underpinnings of OCNDS and eventually developing treatments. The two OCNDS variants represented in these models are R47G and R312W.

Project: Computational Characterization of CSNK2A1 variants in OCNDS

Tue, 13 Aug 2024 09:28:10 GMT

Lead Investigators: Dr. Isabel Dominguez, PhD

Dr. Dominguez is a world expert in the field of Wnt/B-catenin signaling, a pathway modulated by the protein CK2. As a result, her lab has studied CK2 and pivoted into studying the rare neurodevelopmental diseases caused by genetic variants in CK2 subunits, including OCNDS. Specifically, Dr. Dominguez integrates cellular, organismal, computational, and clinical studies to understand the mechanisms of disease progression in CK2 related disorders.

Grant Details:

Projected funded for 1 year starting in 2021 for $26,201.

Aims of Grant:

Dr. Dominguez and her team will use a variety of clinical databases to determine the frequency of all reported CSNK2A1 mutations that cause neurologic-associated symptoms, including in individuals currently not diagnosed with OCNDS. Additionally, computational tools will be used to predict the consequences of any mutations found on the evolutionary, functional, biochemical, and structural levels. Finally, they’ll use the data mined from their clinical database search to investigate relationships between mutations and clinical manifestations of disease. Overall, this study will survey the diversity of CSNK2A1 mutations and their functional and clinical consequences in the most complete manner to date.

Published Results from this Grant to Date:

Unni et al., 2022. Predictive functional, statistical, and structural analysis of CSNK2A1 and CSNK2B variants linked to neurodevelopmental disorders. Frontiers in Molecular Bioscience 9:851547.

Link to Research Explained – Written but not yet on the website

Project: A Comprehensive Proteomic Characterization of Common CK2 Variants Found in OCNDS

Tue, 13 Aug 2024 09:25:55 GMT

Lead Investigators: Drs. Karsten Niefind PhD, Isabel Dominguez PhD, and Joachim Jose PhD

The team of scientists working on this project includes Dr. Karsten Niefind PhD at the University of Cologne in Germany, Dr. Isabel Dominguez PhD at Boston University in the United States, and Dr. Joachim Jose PhD at the University of Munster in Germany. Dr. Niefind has researched the protein structure of CK2, a subunit of which is modified in OCNDS, for many years. Dr. Dominguez is an expert in animal model development and the Wnt signaling pathway, a biological cascade involved in a variety of diseases that is affected by CK2 activity. Dr. Joachim Jose is an expert in the development of drugs that inhibit proteins such as CK2, developing multiple drugs that inhibit CK2 functionality in various ways.

Grant Details:

Project funded for 1 year starting in 2021 for a total of $36,600.

Aims of Grant:

Together, these researchers are undertaking a full characterization of the most common genetic variants in CSNK2A1 on the protein level. The structure of mutant proteins, their stability, and enzyme activity will be investigated. A frog model of OCNDS will also be developed to determine if this model mimics the human disease and if it can be used to study downstream molecular changes and eventually drugs to treat OCNDS. Together, these studies will fully characterize the effects of OCNDS-causing mutations on the molecular and physiologic levels.

Published Results from this Grant to Date:

Dominguez et al., 2021. Okur-Chung neurodevelopmental syndrome-linked CK2α variants have reduced kinase activity. Human Genetics 140:1077-1096.

Link to Research Explained .

Project: Development of Isogenic Control Induced Pluripotent Stem Cell (iPSC) Models of OCNDS

Tue, 13 Aug 2024 09:00:40 GMT

Contract Awarded to: Sampled SMART Labs

Sampled is a leading biotechnology company in the field of biobanking and bioprocessing, aiming to turn precious patient samples into renewable resources to extend research possibilities.

Grant Details:

Project funded for 1 year starting in 2023 for $34,793.

Aims of Grant:

The CSNK2A1 Foundation has contracted Sampled to create and store isogenic controls for OCNDS patient samples. In rare disease research, it is critical to compare patient samples to controls that are as similar as possible to the original sample except for the disease-causing mutation – termed isogenic controls. Sampled will revert OCNDS-causing mutations in patient samples through CRISPR-Cas9 gene-editing technology back to typical human sequences and will store these samples for use by future researchers. This will create an essential resource for OCNDS researchers to study both the basic molecular biology of and possible treatments for OCNDS.

Project: Deep Molecular Profiling of Mouse Models of OCNDS

Tue, 13 Aug 2024 08:40:23 GMT

Contract Awarded to: Unravel Biosciences, Inc.

Unravel Biosciences is a biotechnology company dedicated to unraveling the molecular underpinnings of diseases and identifying therapeutic opportunities based on computational analysis of gene expression profiles.

Grant Details:

Project funded in 2023 for 1 year in 2023.

Aims of Grant:

The CSKN2A1 Foundation has contracted Unravel Biosciences to utilize their computational platform to identify molecular differences in OCNDS mouse and human samples and compare them to individuals without OCNDS. Furthermore, Unravel will leverage their drug screening platform to identify potential therapeutics predicted to be functional within and across mouse and human models of OCNDS. After identification, collaborators in the Rebholz lab at the Institute of Psychiatry and Neuroscience of Paris will test potential therapies in various OCNDS models.

Project: Characterization of Mouse Models of OCNDS

Tue, 13 Aug 2024 08:31:58 GMT

Lead Investigator: Dr. Heike Rebholz PhD.

Dr. Rebholz is an eminent neuroscientist and biochemist based in Paris, France at the Institute of Psychiatry and Neuroscience of Paris. Dr. Rebholz studies the communication between specific subtypes of brain cells, dubbed serotonergic and dopaminergic neurons. She is a leading expert specifically in the role of the protein CK2, partially encoded by the gene CSNK2A1 whose genetic mutation causes OCNDS, in this signaling between brain cells.

Grant Details:

Project funded for 3 years starting in 2023 for a total of $141,164.

Aims of Grant:

Dr. Rebholz and her team will characterize four mouse models of OCNDS, whose mutations in the CSKN2A1 gene represent many variants seen in patients. Through this study, the effects of OCNDS will be profiled from a macroscopic to microscopic level, looking for changes in behavior, neuron functionality, and the proteome. This will provide conclusive evidence for the molecular basis of OCNDS and will provide pre-clinical models for testing future treatments.

Project: Characterization of CSNK2A1 disease causing variants in two-dimensional differentiated neurons

Tue, 13 Aug 2024 08:30:08 GMT

Lead Investigator: Dr. Matt Huentelman, PhD

Dr. Matt Huentelman is a Professor and the Division Director of the Neurogenomics Division at the Translational Genomics Research Institute (TGen) in Phoenix, Arizona. His research focuses on understanding the molecular aspects of the human nervous system in health and disease. Dr. Huentelman joined TGen in July of 2004 after completing his doctoral work at the University of Florida's Department of Physiology and Functional Genomics at the McKnight Brain Institute. His research is/was supported in part by the National Institutes of Health, the Department of Defense, the Defense Advanced Research Projects Agency, the Arizona Community Foundation, the Institute for Mental Health Research, Science Foundation Arizona, the Flinn Foundation, and the American Heart Association. He has published over 250 peer-reviewed manuscripts since 1998 which have been cited over 30,000 times by his peers.

Grant Details:

Project funded for 1 year starting in 2024 for a total of $151,990.

Aims of Grant:

Dr. Matt Huentelman and Dr. Leigh Nicholson will characterize the in vitro genotype-phenotype relationship for several disease-causing variants within the CSNK2A1 gene in patient-derived 2D cultures of differentiated neurons generated from induced pluripotent stem cells (iPSCs). Patient-derived iPSCs provide a unique opportunity to model human brain development both in a “normal” context and in the presence of OCNDS-causing mutations. This project will be critical in determining the utility of these patient lines for further studies such as drug repurposing and/or gene-modifying therapeutic approaches. Furthermore, we will gain valuable insights into how changes in the CSNK2A1 gene affect development.

Project: Drug repurposing screen using OCNDS Fly Model

Tue, 13 Aug 2024 08:27:38 GMT

Lead Investigator: Dr. Clement Chow, PhD

Clement received his BA from Cornell University in 2003. He completed his Ph.D. in 2008 in the Department of Human Genetics at the University of Michigan, where he worked with Miriam Meisler. Clement completed his postdoctoral training as a co-mentored postdoc with Andy Clark and Mariana Wolfner at Cornell University. While not in the lab, he is wrangling two unruly children and four chickens.

About the Chow lab:

Our lab is focused on understanding the role of genetic variation on disease outcomes. We employ quantitative and functional tools, in a variety of model organisms, to study how genetic variation impacts basic cellular traits important to human health. Our work in model organisms will help to model and inform studies of genetic variation in the human population. We hope to identify variations that can lead to more precise, personalized therapies, especially for rare disease.

Grant Details:

Project funded for 1 year starting in 2024 for a total of $72,877.07.

Aims of Grant:

Dr. Chow will utilize the Prestwick Chemical Library consisting of 1,520 compounds using a fly model of OCNDS where the CK2 protein is reduced. Using the fly eye structure as a readout of drug effects, his lab will generate a list of ‘hits’ (compounds) that improve the fly’s symptoms. This means that we have a compiled list of compounds that we can test across other OCNDS models and potentially, test quickly in patients to help improve various symptoms.

Research Explained: Okur-Chung neurodevelopmental syndrome: Implications for phenotype and genotype expansion (2024)

Thu, 11 Apr 2024 07:15:00 GMT

Link to Paper: https://doi.org/10.1002/mgg3.2398

Authors: Haitian Nan, Min Chu, Jing Zhang, Deming Jiang, Yihao Wang and Liyong Wu

Research Explained By: Dr. Jennifer Hochscherf

Research Explained Summary:

In this clinical report, the authors describe a novel variant in the CSNK2A1 gene in an OCNDS family. The 31-year-old patient showed abnormal eating habits (a strong predilection for sweets and sugary beverages), recurrent seizures, language impairment and limb weakness. Her neurodevelopment was within the normal range. She experienced her first seizure at the age of 29 and subsequently had recurrent seizure episodes. Further symptoms included involuntary facial twitching, chewing coordination issues, memory decline, visual and auditory hallucinations and daily episodes of limb rigidity and spasms.

Whole Exome Sequencing (WES) was conducted involving the patient, mother, and father. This technique revealed a mutation in the CSNK2A1 gene that was passed on from mother to daughter. The mother exhibited no significant developmental impairments nor intellectual disability but possessed a susceptibility to infections. The mutation in the CSNK2A1 gene that was identified in the patient and her mother is the duplication of the base thymine at position 967 of the coding sequence of the CSNK2A1 gene.

A mutation that adds a new base or deletes a base causes a shift in the reading frame, which is called a frame shift mutation. This leads to completely different building blocks being lined up than actually intended in the construction plan after the mutation site. This often leads to a stop codon, which is the sign to end the linking of building blocks. The cell owns a quality control mechanism that recognizes the mRNAs that harbor such premature stop codons and degrades them to prevent the production of a shortened protein, called nonsense-mediated decay.

The mRNA with the frame shift mutation could not be detected in the study, which indicates that the mRNA is degraded and that the defective CK2alpha protein is not produced. The CSNK2A1 variant is therefore called a “null variant” since no protein product is made. There are always two copies of the CSNK2A1 gene in the cell, one from the father and one from the mother. Hence, there is one copy with the correct sequence in each of the patient's cells, which in this family comes from the father. The study found that the total mRNA transcribed from the CSNK2A1 gene was reduced by around 50% compared to healthy individuals. This suggests that the disease mechanism is due to the presence of less CK2a as compared to individuals without OCNDS.

Many CSNK2A1 variants that have been identified in OCNDS patients carry missense mutations. This means that only one building block of the protein is replaced because of the mutation and the protein continues to be produced although its function is altered. Compared to patients with this type of mutation, the patient presented in the clinical report and her mother have significantly milder symptoms. Other patients with CSNK2A1 null variants show a significantly lower frequency of symptoms, such as speech deficits, dysmorphic facial features, or intellectual disability.

Thus, this study offers insights into the spectrum of clinical manifestations associated with OCNDS and sheds light on the relationship between the mutation at the DNA level and the clinical presentation. Specifically, it highlights that individuals with null variants in the CSNK2A1 present with a milder clinical presentation than individuals with missense variants.

Additional Scientific Background for this paper:

The CSNK2A1 gene is the blueprint for the CK2alpha protein and determines the sequence in which various building blocks, so-called amino acids, are linked to form a long chain. This blueprint is written down in the DNA with four different bases (cytosine [C], guanine [G], adenine [A] and thymine [T]) like letters in a book. Three consecutive bases, known as a codon, contain the information which building block is to be incorporated. To learn more about codons, visit this link .

Between the blueprint on the DNA and the actual assembly of the protein from the individual building blocks, there is another important step: The blueprint is transcribed into a messenger RNA (mRNA). Certain modifications ensure that it ultimately only contains the information for building the protein -like extracting the essential chapters of the construction manual.

One Foot in Front of the Other: Navigating Anger

Thu, 04 Apr 2024 06:47:00 GMT

I have never been angry about Jules’ life-altering diagnosis. From the moment our neurologist told me Jules’ symptoms were caused by a case of bad luck, a one-letter change on one allele of her CSNK2A1 gene not inherited from either Jason or me, my first response was one of sheer relief; at last, we had an answer and resounding confirmation that it wasn’t something I had “caused.” My second response, however, was a question: “So how do we move forward from here?

"One foot in front of the other." That's been my mantra for tackling any problem or obstacle for as long as I can remember. I'm usually an action-taking person, an administrative lover who does all things administrative that I can for the people I care about. I always put one foot in front of the other, never stopping for anything, until now.

Recently, I felt a storm of anger and rage like never before that stopped me in my tracks. I was so angry at Okur-Chung Neurodevelopmental Syndrome (OCNDS). It has stolen so much from my girl. Jules is extraordinary, however, most of the time, our sweet Jules is locked away by OCNDS, like Rapunzel in her tower. Jules is clever, spicy, naughty, a first-rate shit disturber like her father, a budding chef, loves the ocean and has an adventurous spirit. Jules’ spirit animal is the dolphin. Her favorite food is octopus. Her favorite treat is Peeps. She loves living in an RV or on a cruise ship. Her favorite activity is cooking. If you know our Jules, you know that she never stops moving, she keeps you on your toes, and you never have to guess when she is happy (or furious).

OCNDS has imposed significant challenges upon Jules. While most 15-year-olds possess a vocabulary of 50,000+ words, she's limited to about 200. Her symptoms include severe speech delay, autism, global developmental delay, cognitive impairment, self-injurious behavior, and a sleep pattern that's constantly disrupted. Her self-injury is so severe that it leaves her bleeding through her clothes. There have been moments when the wounds were dangerously close to her rib bones, striking fear into the hearts of doctors about the potential for deadly infections. On some days, she can cry for 9 hours a day and in a complete panic state which renders her immobile, unable to engage in any daily activities or communicate. During those times, I try all the things. I try to problem-solve it, one foot in front of the other - Check if she is hungry or tired - Try to cuddle her - Try to ignore it - Try to pray it won’t last 9 hours - Try to give her my phone (she always wants mine and not her own) - Try to play calm music – try self-compassion. And then the moment that feels like an eternity ends.

When Jules is clear, calm, and focused, it is magic. It is a unicorn moment. In these moments, you can see a glimpse into what she is capable of and the amazing things she would do but for OCNDS. Besides grocery shopping, Jules’ favorite pastime is cooking. She is like a Michelin 1-star chef. She can’t write her name, but her knife skills rival a decorated sushi chef’s. In a unicorn moment, she heads to the kitchen. She transforms into Remy from Ratatouille, the young rat with heightened senses of taste and smell who dreams of becoming a chef like his human idol. She washes her hands and dries them. She opens the cabinets, and bowls begin clanking like an atonal orchestra as she finds a home for each of her ingredients. She gathers meticulously, from memory, her ingredients and will create her mise en place. She smells every ingredient to ensure its freshness and that it is up to her standards. She begins a symphony of washing, chopping, measuring, mixing, and sauteing. She even cleans up “her station” along the way. She creates culinary delights from scratch, like jambalaya, guacamole, or frosting for a cake. During these moments, her talker, an Ipad with a communication picture app, becomes her voice, sharing her dreams, desires, and thoughts: her enthusiasm for “Hawaii,” her longing to “swim with dolphins,” and the anticipation of “Thanksgiving” (Jules loves holidays), replete with “turkey,” “caviar” and “crab” (Jules is a foodie, a fancy girl at heart.). This is a brief window into her soul, a testament to how much is going on that we don’t know about. Recently, I sat in the kitchen and watched her do this for 3 hours, and suddenly, she stopped and began to weep. The moment was shattered. She was now fully back in the clutches of OCNDS. She was now in a ball, crying, not able to communicate, her body trembling and inconsolable.

And in that moment, I felt an overwhelming surge of anger, the likes of which I'd never experienced before. I was filled with rage. Vengeful tears streamed down my face. I've never been angry about her having OCNDS before because I was always putting one foot in front of the other by working tirelessly to start a foundation, connecting OCNDS families across the globe, fundraising, supporting OCNDS research, advocating for the services she needs at school, and secretly shielding Jules from all the ugly stares from people at the market. Jules is not OCNDS. OCNDS is something that is happening to her body. But on this day, I fiercely and unapologetically hated OCNDS. Actually, I fucking hated OCNDS. No other way to put it. I know it is so vulgar. I hate OCNDS for all it prevents her from experiencing. The list of missed opportunities and dreams is too painful to enumerate.

Jules deserves to live her dreams, and all she gets are fleeting glimpses. I don't know why it took me seven years to get angry. Anger doesn't change anything, but maybe it's part of the rare disease grief process. In the end, I'm left with my two feet, continuing to put one foot in front of the other, striving to find a treatment to unlock my sweet girl from the clutches of OCNDS. Left foot, right foot, left foot - my journey continues, knowing we are living in a science revolution, and I will unlock my Rapunzel from her tower.

2024 International OCNDS Awareness Day: Embracing Life's Smallest Victories in Parenting

Thu, 04 Apr 2024 06:22:00 GMT

Starting when Harper was just 11 months old, Amber began jotting down these moments of progress, what she affectionately termed "inchstones." Over time, this practice evolved into a celebration of Harper's achievements, no matter how minor they seemed in the grand scheme. Now, at 12 years old, Harper's journey is documented, filled with countless moments of growth and resilience.

Through this process, Amber underwent a profound mindset shift. The trivialities that once consumed her attention faded into insignificance, replaced by a profound gratitude for Harper's health and vitality. The journey taught her not to take anything for granted, emphasizing the importance of cherishing each milestone along the way. In essence, Amber's story serves as a powerful reminder of the transformative power of perspective and the beauty found in life's smallest victories. Today is OCNDS Awareness Day. Regardless of where you are in your journey, this will resonate with you. Take a listen today: https://www.disabilityparentingpodcast.com/podcast/episode/34912c83/ep-6-how-my-child-has-changed-me-with-amber-reynolds

Rare Disease Day 2024

Thu, 29 Feb 2024 17:19:00 GMT

Rare Disease Day 2024 by Keri Ninness
This day always brings a mix of emotions for our family. Feelings of frustration, defeat, and exhaustion at the hands of rare disease coexist with immense trust and faith in a good plan for our son. We know with every fiber of our beings that nothing is wasted in Thomas’s story or ours.
This year, I am thinking about the parents who have just received a diagnosis for their child. Maybe, like us, there was some relief in having an explanation for your child’s struggles. Maybe, also like us, the diagnosis day was worst day of your life. If I could go back 7 years and talk to the young mama falling to her knees in her son’s preschool bathroom as the geneticist confirmed her worst fears, I would have so much to share.
I would gently tell her:
Thomas will be okay. You will be okay. Your family will be okay. Take one hour at a time.
It’s okay to grieve what you thought His life would look like. But, truly, no parent knows what the future holds for their child. His story is still unique and beautiful.
Access every ounce of early intervention you can. Sit on hold for hours with insurance companies and resources for help. It is maddening but each minute matters. Use school based therapies and private ones if you can. Waiting rooms will become a second home but miracles happen in those PT/OT/Speech/ABA sessions.
Take care of yourself. You cannot pour from an empty cup and you will undoubtedly have to pour out more than many mamas. Make time for exercise, for time alone, for friendships, for nurturing your relationship with your spouse. Get up early if you can. Those quiet mornings when noone needs you will fill your soul quickly.
Let people in. If someone offers you a meal or to take your other children for the day or to bring you coffee, accept their offer. In the Christian faith tradition, a man named Simon helps Jesus carry His cross. Many days rare disease is indeed a cross. You will need help carrying it.
Spend time with your child doing things that have nothing to do with therapy or doctor’s appointments. Take him to a park, play a game with him, delight in who He is. He needs to know He is more than a diagnosis.
Let the waves of grief crash as often as you need. But also leave space for glimmers, those soft, quiet whispers of hope and joy. Look for them in the everyday victories. Celebrate the first time he steps off a curb without falling and when he communicates his needs independently. Cheer him on when he ties his shoes or offers to help a sibling with homework. Be intentional about looking for the joy. You’ll find it.

To Thomas’s mama of 7 years ago, wailing on that bathroom floor, take heart. Your boy will climb Everest day after day. The sheer heroism of his grit and perserverance will astound you. You will bear witness to many miracles. The therapists and teachers who pour into your son will become like family, themselves heroes. Your other children will grow in compassion and patience and thoughtfulness. Your husband will carry you when you grow weary. Thomas will make it, mama. And so will you.

Harper is Rare

Tue, 27 Feb 2024 16:40:00 GMT

Harper is Rare. By Amber Reynolds

Harper is rare because she has an ultra-rare syndrome, Okur-Chung Neurodevelopmental Syndrome, caused by a mutation on the CSNK2a1 gene.

Harper is rare because she is 1 out of 200 with this syndrome.

Harper is rare because she talks using a communication device.

Harper is rare because she looks at life through rose-colored glasses.

Harper is rare because she is an empath and loves and cares for all her friends despite having autism.

Harper is rare because she skis, bikes, hikes, swims, and more despite others with her syndrome having physical challenges.

Harper is rare because she flaps her hands when she is happy.

Harper is rare because when she is being naughty, she has a sparkle in her eye and a sneaky laugh.

Harper is rare because she is a preteen and she could care less about her looks or trying to fit in.

Harper is rare because she doesn't like hugs or physical touch, unless it's on her own terms.

Harper is rare because she can vanish out of your sight within seconds.

Harper is rare because despite the challenges she faces Harper's sparkle never dims.

Harper is rare and as precious as a diamond.

We love our RARE beautiful daughter, Harper Elizabeth, and all her qualities and facets.

Happy Rare Disease Day on the rarest day of the year!

February 29th, 2024

A Year In Review: Highlights of 2023

Fri, 05 Jan 2024 04:04:00 GMT

Forward Together: CSNK2A1 Foundation's 2023 Year in Review

As we reflect on the culmination of our fifth year, the CSNK2A1 Foundation stands at the threshold of an exhilarating new chapter infused with momentum and hope. In the complex landscape of the Okur-Chung Neurodevelopmental Syndrome ("OCNDS"), where families navigate the challenges from diagnosis to care, treatment, and the quest for a cure, our foundation has emerged as a beacon of support and progress.

Embarking on the rare disease journey, OCNDS families encounter numerous hurdles, with an average of seven years elapsing before the correct diagnosis is reached. In 2016, when families received an OCNDS diagnosis, there existed no foundation, information, website, or supportive community to guide them through uncharted territory.

In response, the CSNK2A1 Foundation was formed in 2018, laying the groundwork for our mission to not only find a cure for OCNDS but also to ensure that those affected have the opportunity to lead happy and full lives.

OCNDS manifests with symptoms ranging from speech delay or inability to speak, epilepsy, global developmental delay, and autism spectrum traits to cognitive impairment, hypotonia (low muscle tone), and feeding difficulties, impacting daily life in varying degrees of severity.

The theme that has guided us through 2023 is "Forward Together," embodying the spirit of collective action and shared commitment. Our journey cannot be traversed alone; it requires the engagement of each member within our OCNDS community. In the pursuit of brighter lives for those affected by OCNDS, we have challenged our families to identify impactful actions to help move the needle, emphasizing the necessity of 100% participation.

In the inaugural year, our fundraising efforts yielded $96,000. From these modest beginnings, the prospect of hiring a full-time Science Program Director once seemed far-fetched; however, the need for a visionary leader to steer our research program and hasten the path to treatment became evident in 2022. In April, Dr. Gabrielle Rushing joined us as our Science Program Director, and in her first year, she has already left an indelible mark, propelling us closer to our goal.

This year, we mourned the loss of Jay Silberman, a steadfast supporter of the Foundation. Yet, even in sorrow, we find inspiration in the generosity of Mary Pat Silberman, who chose our foundation as the recipient of donations in Jay's memory. His legacy reminds us that even the smallest acts of kindness can create transformative ripples, shaping a better world for all.

In September, we registered our 200th individual with OCNDS in our foundation contact registry! This is a huge milestone, as in 2016, the first paper described only five children with OCNDS. Our contact registry is one of a kind, as it keeps track of those with OCNDS, even if they speak different languages. This isn’t being done anywhere else. The literature doesn’t represent all the families struggling with OCNDS, and we want to give a better picture of how many people are being diagnosed worldwide. This isn’t a perfect system, as we know many other families that haven’t registered with the foundation for various reasons.

As we delve into the highlights of 2023, we invite you to celebrate the achievements, acknowledge the challenges, and recognize the collective strength propelling us forward. Only together can we forge a path toward a future where OCNDS is better understood, support is more accessible, and, ultimately, lives are improved. Join us as we unlock hope and progress toward a brighter future for those affected by OCNDS.

Forward Together: CSNK2A1 Foundation's 2023 Year in Review

A HUGE thank you to you - our supporters, volunteers, families, and donors – without you this wouldn’t be possible. Thank you for being an integral part of this meaningful journey.

2023 Highlights:

We are focused on finding a cure for Okur-Chung Neurodevelopmental Syndrome and ensuring affected individuals have the opportunities and supports necessary for happy and full lives. In 2023, the foundation made substantial progress in its six key areas of focus :

Research
Awareness
Family support
Fundraising
Advocacy
Strategic partnerships

RESEARCH. Innovative research is the cornerstone of our mission, as it brings us closer to unlocking the unknowns of OCNDS and finding treatments for our loved ones. By supporting a multifaceted approach to research by concurrently investing in diverse initiatives, we aim to enhance our understanding of the syndrome's underlying mechanisms, ultimately paving the way for effective treatments. Here are some of our research highlights for 2023:

Hired our inaugural Science Program Director , Dr. Gabrielle Rushing, to accelerate OCNDS research.
Awarded 4 new grants :

Unravel Biosciences : Unravel Biosciences will utilize their computational platform to identify molecular differences in OCNDS mouse and human samples and compare them to individuals without OCNDS. Unravel will leverage their drug screening platform to identify potential therapeutics predicted to be treat OCNDS. After identification, collaborators in the Rebholz lab at the Institute of Psychiatry and Neuroscience of Paris will test potential therapies in various OCNDS models.

Heike Rebholz, PhD : Dr. Rebholz and her team aim to examine four mouse models of OCNDS, each with mutations in the Csnk2a1 gene that mirror various variants observed in patients. This research will comprehensively analyze the effects of OCNDS, delving from high level observations (such as size, behavior) to a detailed microscopic level. The focus includes assessing alterations in behaviors, neuron functionality, and the proteome. This work will establish preclinical models that can be used to test potential treatments for OCNDS in the future.

Matt Huentelman, PhD : Dr. Huentelman and his team will characterize 4 OCNDS patient-derived induced pluripotent stem cell (iPSCs) lines. Timepoints studied will include: iPSCs, neuronal precursor cells (NPC), early/mid/late neuron differentiation stages (6 weeks, 8 weeks, and 12 weeks). Analysis to include phosphoproteomics (looking at what CK2 is targeting in the cells) and RNA sequencing, a technique that allows scientists to examine the entire set of RNA molecules present, offering insights into gene expression patterns and potential dysregulations specific to OCNDS.

Clement Chow, PhD: Dr. Chow will use a Drosophila (fly) model of OCNDS to carry out small molecule repurposing screens with libraries of FDA-approved drugs (i.e., Prestwick Chemical Library). Drosophila is an ideal tool to achieve this quick transition from the bench back to the clinic in a much quicker time period than other models.
2 new OCNDS Publications :

TGEN released a groundbreaking study showing that OCNDS can be inherited. Although the reported cases of OCNDS in families are currently limited, the growing utilization of next-generation sequencing for the clinical diagnosis of neurodevelopmental disorders holds the potential to identify additional families with OCNDS.

Simons Searchlight surveyed 620 caregivers of patients with 39 genetic neurodevelopmental disorders, highlighting increased drooling, dental care difficulties, delayed baby teeth eruption, and abnormal tooth growth as common issues. Significantly, patients in only four groups, including OCNDS, showed a higher likelihood of dental problems compared to sibling controls.

We observed continued progress through our dedicated OCNDS research program at TGen. In August, Dr. Rushing and Jennifer Sills visited our team at TGEN to brainstorm ideas for the future of the TGEN OCNDS research program.
Welcomed 2 new Scientific Advisory Board members , Drs. Rachel Bailey, and Kimberly Goodspeed. With Dr. Bailey’s extensive background in genetic research and a passion for finding treatments, Dr. Bailey's expertise will be instrumental in our mission to accelerate novel treatment options for individuals with OCNDS. Dr. Goodspeed’s dedication to clinical care, coupled with her expertise in clinical research on neurodevelopmental disorders, makes her a vital asset in advancing the mission to support individuals and families affected by OCNDS.
We hosted 3 scientific roundtables to foster collaboration and progress and in Q3, Dr. Rushing updated the format to allow one researcher per session to dive deeper into their work at each roundtable, facilitating collaborative feedback among attendees.
Through our contact registry program, we notified families of a research opportunity with Drs. Chung and Okur for a study on less common CSNK2A1 gene deletion variants.
Continued our partnership with Simons Searchlight on the OCNDS/ CSNK2A1 natural history study and iPSC lines. We are actively recruiting families to join Simons Searchlight.

113 individuals have registered, 91 individuals have provided lab reports, 71 have completed their medical history profiles, and 23 have generously contributed blood samples.

Dr. Rushing recruited our inaugural Scientific Communications Intern , Brad Davidson, a doctoral student in biomedical sciences at Vanderbilt University with a diverse background spanning ecology, neuroscience, and cancer biology. He helped us write a “Research Explained” (science explained in an understandable way for non-scientists) for 18 scientific publications that will soon be featured on our updated website. He also provided us with great ideas to improve how we communicate science with our community. 
Finalized our partnership with Unravel Biosciences, a biotech company, to determine whether we can repurpose approved FDA drugs as a treatment option for those with OCNDS.
Early career investigators presented their OCNDS research across the globe. It is important to invest in young researchers as they bring innovative ideas to research, and it ensures the continuity of expertise in rare diseases such as OCNDS. By promoting their research, we contribute to a much more robust foundation of scientific knowledge about OCNDS and enhance our opportunities to find therapeutic avenues.

Researcher Dr. Danielle Caefer, PhD from the Schwartz Laboratory at the University of Connecticut presented her work on OCNDS at the American Society for Mass Spectrometry annual meeting.

Alexander Gast, a PhD student in Professor Jose's group at the Institute of Pharmaceutical and Medicinal Chemistry in Münster, received a poster award from Taylor & Francis. His poster entitled "Molecular Characterization of Variants of CK2α found in Okur-Chung Neurodevelopmental Syndrome" presents in vitro investigations into clinically relevant mutations of the protein kinase CK2. The work was done in collaboration with the CSNK2A1 Foundation, Dr. Heike Rebholz, and her PhD student Jose Cruz-Gamero.

Young investigators were inspired by OCNDS. This summer, young scientist Zoe Hill participated in TGen’s Helios Scholars program, an incredibly competitive full-time internship program that pairs undergraduate, graduate, and medical school students with TGen faculty and staff to complete a research project. Recently, she delivered an oral presentation and project poster on "Investigating the Role of the Mitochondria in Okur-Chung Neurodevelopmental Syndrome.” She received 3rd place for her oral presentation.

An exciting milestone for the Foundation is that OCNDS researchers are now receiving funding from government institutions or private foundations to continue their OCNDS research. This is exciting to see as in 2016, no one was studying OCNDS, and the foundation was the first to invest in OCNDS research. Having others invest in OCNDS is a significant milestone for the foundation and OCNDS families. Furthermore, this is evidence that the foundation investing in researchers will have longer-term benefits than the project itself: preliminary data generated using foundation funds is used to submit grants for much larger monetary awards to continue their OCNDS research.

Dr. Rebholz, a leading OCNDS researcher, received a 2023 Winter Pilot Award from SFARI for her project titled “Cell-specific phosphoproteomic profiling in a mouse model of ASD, linked to a dysregulated kinase.” Dr. Rebholz will use an OCNDS mouse model to measure CK2 (the protein affected in OCNDS) activity and determine if we can find an OCNDS-specific marker in the mouse model.

Abdelhalim Loukil, PhD, and his dedicated team of researchers at Sanford Research secured a monumental $2 million grant from the National Institute of General Medical Sciences (NIGMS, NIH). In 2022, our first in-person scientific conference, Dr. Loukil presented groundbreaking work on primary cilia and their connection to OCNDS. Primary cilia are like tiny antennae on our cells, playing a crucial role in sensing environmental signals that guide embryonic development. What Dr. Loukil discovered is that CSNK2A1 -related mutations can alter the morphology and trafficking of primary cilia. This discovery is a step forward in understanding the complexities of OCNDS.

Applied for 7 highly competitive grants ranging in awards from $5,000 to $1.6 million; some were joint applications with OCNDS researchers and others were geared towards capacity building for the foundation. We hope to hear back about some of these grants in early 2024.
In December, Dr. Rushing presented the first research roadmap for OCNDS.
Entered into a collaboration with TREND: Community The aim of TREND is to collect information from posts in the OCNDS private community Facebook group about common issues, symptoms, and treatments that would benefit the community. TREND will obtain historical data, securely and anonymously, from the private group by utilizing an application that compiles all posts and comments without name or profile information. This data will be summarized into reports and available via interactive features for our OCNDS Community to achieve the following goals: better engage and equip newly diagnosed OCNDS families, advocate for our existing OCNDS Community through greater clarity and understanding, provide better information for our Research and Education partners through discovering new information about OCNDS (for example, new symptoms or treatments that are working for some families), and publications.

AWARENESS. With awareness comes social acceptance and kindness, which can mean all the difference to a family struggling with basic daily activities. With awareness comes more funding for research and advocacy. With awareness comes interest from researchers, biotech, and pharma which can lead to a treatment or a cure. And awareness coupled with action, we are one step closer to understanding and treating OCNDS. Here are some of our awareness highlights for 2023:

On Rare Disease Day, we united with 300M+ globally to advocate for access to diagnosis, treatment, care, and social opportunities for individuals with rare diseases.

In addition, our President, Jennifer Sills, joined other advocates at the National Institutes of Health (NIH) in Maryland. Rare Disease Day at NIH aims to raise awareness about rare diseases, the people they affect, and NIH collaborations that address scientific challenges and advance research for new treatments.

4 families published blogs reflecting on their thoughts around OCNDS and Rare Disease Day.

On April 5th, our 3rd International OCNDS Day, we brought global attention through an awareness video and over 22 illuminated landmarks in foundation colors green and blue , such as Niagara Falls and High-Level Bridge, and local community events. In addition, 2 states, Missouri and Pennsylvania, issued state proclamations declaring April 5th as OCNDS day.
Reynolds Family's Awareness Day celebration at Brewability in Englewood, Colorado, united the community, featuring live music and exciting giveaways, and Brewability donated 10% of sales to support CSNK2A1 Foundation's research efforts.
In November, we earned a 2023 Top-Rated Award from Great Nonprofits for the 2nd year in a row.
Utilizing a range of media and mediums, OCNDS families and foundation staff have effectively elevated awareness for OCNDS. Through blogs, features in local and national news and articles, participation in podcasts, inclusion in a documentary, and radio appearances, we were able to further broaden the reach of our message. These diverse approaches underscore the significance of tapping into various media channels to cater to different audiences, ultimately fostering a comprehensive understanding of OCNDS and garnering support for ongoing research and support initiatives. Here are some of those highlights:

5 Blogs were published by OCNDS parents about all aspects of OCNDS including daily care, newborn screening, transition into adulthood, and receiving a diagnosis.

1 Guest blog on Once Upon a Gene by our president Jennifer Sills entitled “Sometimes There Is No Silver Living”

The Sills Family was one of 11 families featured in a documentary by Bo Biglow and Daniel Defabio, Life After Diagnosis , released in April.

Jennifer Sills was featured in an article by Michelle Hollow in which she shared her family’s journey with Simons Searchlight. Simons Searchlight allows families to engage in research, interact with scientists and explore potential treatments for rare genetic disorders.

Dr. Gabrielle Rushing was featured in an article by Elizabeth Stivison about the role of a Science Director.

5 OCNDS families were featured on the local news, radio, and publications in Wyoming, Alabama, Pennsylvania, Massachusetts, and the United Kingdom.

Jennifer Sills was featured on the Handi-Link podcast hosted by Cam Well which focuses on disability issues.

Issued 8 press release announcements about exciting Foundation endeavors.

Dr. Rushing generated foundation resources to share with clinicians and researchers at conferences: “OCNDS at a glance” and “Research Toolbox.”
Received a grant from Google For Nonprofits for $10,000 per month in GoogleAds . Thanks to our partners at Probably Genetic for helping us with the grant.

FAMILY SUPPORT THROUGH EMPOWERMENT, EDUCATION & CONNECTION . Providing comprehensive support to families dealing with OCNDS is at the heart of our mission. By offering a network of care that includes resources, peer-to-peer support, and community connections, we aim to empower families to navigate the challenges associated with OCNDS and ensure a nurturing environment for affected individuals to thrive. Here are some of our 2023 family support highlights:

Welcomed 57 new OCNDS families into our ever-growing community, hailing from Australia, Brazil, Bulgaria, Canada, China, Denmark, France, Germany, Hong Kong, Italy, Ireland, Israel, New Zealand, the Netherlands, Norway, Spain, the USA, and the UK. We now have 218 OCNDS families registered in our contact registry .
Launched our regional ambassador program. Regional ambassadors (RAP) are serving the USA West Coast, USA Midwest, USA East Coast, Canada, England, Ireland, Spain, Ecuador, Germany, Austria, Norway, Sweden, Finland, Denmark, and the Netherlands. Regional ambassadors are responsible for building a supportive OCNDS community within their assigned region. 
13 members of the PAB and RAP completed Peer Support Training 101 through the Child Neurology Foundation.
Added 2 new members to our Parent Advisory Board , Miranda & Eric Finn
4 regional ambassador meetups : 2 virtually 2 in-person, in the UK, Midwest, and Colorado.
We participated in the Simons Searchlight Shine Your Searchlight campaign with over 20 patient advocacy organizations to bring awareness to the importance of participating in research and increase participation in our the OCNDS/CSNK2A1 Simons Searchlight Natural History Study.
The Parent Advisory Board (PAB) participated in the 2nd and final Dare to Lead™ workshop led by executive coach Katie Fredricksen, MA, PCC, CPCC.
Hosted 10 family Zoom calls . We repeatedly heard poignant feedback regarding how families felt after the meetings, such as "Connected," "Grateful," "Not alone," "Understood," "Excited," "Togetherness," "Hopeful," and "Supported," reaffirming the profound importance of these gatherings in fostering unity and hope within our community.
We continued our partnership with Wordly to provide live-caption translation during our family Zoom calls to remove the language barrier to participation since we have OCNDS families from over 33 countries, speaking 21 languages .
56 dedicated volunteers generously contributed their time and expertise. These volunteers span the globe, representing regions such as Australia, Italy, Canada, Texas, Los Angeles, Chicago, New York, San Francisco, United Arab Emirates, United Kingdom, Spain, Netherlands, and Norway.
Posted 11 #MilestoneMonday Campaigns celebrating the successes of those living with OCNDS.
We have teamed up with translation experts to translate our one-pager created by Dr. Okur into all languages spoken by OCNDS families. Eliminating language barriers is of great importance to the Foundation to make sure that all families affected by OCNDS are armed with the necessary information to manage OCNDS symptoms.  It is now available in 21 languages .
We created a new resource for families to understand the GeneReview publication easily. There are no clinical care guidelines for OCNDS. The GeneReview is the only set of management guidelines for OCNDS. We encourage families to share this GeneReview chart with their providers and clinicians.
In June, we hosted a virtual meet & greet with Dr. Rushing and our global community.

FUNDRAISING: Innovative fundraising initiatives are essential for sustaining our research endeavors and support programs. By mobilizing resources, we can accelerate breakthroughs and strengthen our commitment to making a lasting impact on the lives of those affected by OCNDS. Here are some of our fundraising highlights for 2023:

We raised over $550,000 in 2023. Here is an overview of our 2023 fundraising efforts.

Our annual golf tournament in Tarzana, California, at El Caballero Country Club is our largest fundraiser of the year. This year it crushed foundation fundraising records, raising over $392,000 thanks to our 28 volunteers , 115 golfers and sponsors and our outstanding golf committee Jennifer Sills, Micheal Kaplan, Jr., Joey Behrstock, Mike Greenfeld, J. Michael Grossman, Mike Grossman, Connor Hooper, Erin Massey, and Avisha Patel. Special thanks to our title Sponsor Pinnacle Contracting Corporation for leading by example.

We hosted our 3rd annual virtual Run, Walk & Roll event raising over $12,000 with 227 participants across 6 countries .

Giving Tuesday is a global day of giving and our largest on-line fundraising campaign. For Giving Tuesday, we released a video featuring OCNDS families and researchers; the campaign raised over $150,000 for research, which included a $50,000 matching donation from loyal donors Joan and Charlie Davis.

In Missouri, PAB member Terri Jordan and her family hosted the first-ever OCNDS bowling fundraiser in which they raised over $4,000 for OCNDS research . We love seeing families get creative in their fundraising efforts.

37 people created Facebook fundraisers which over raised $14,000.

ADVOCACY. Advocacy plays a pivotal role in championing the rights and needs of individuals with OCNDS. By engaging with policymakers, healthcare professionals, and the broader community, we work to shape policies, raise awareness, and secure necessary resources to improve the quality of life for those affected. Here are some of our advocacy highlights for 2023:

In May, at the California State Capitol, Jennifer Sils gave testimony on how telehealth is a game changer for those living with a rare disease.
Jennifer Sills attended Rare Disease Week on Capitol Hill, joining forces with other rare disease advocates to advocate for legislation that would benefit the entire rare disease community. She met with 5 offices: House Speaker Nancy Pelosi ,  Senator Dianne Feinstein ,  Senator Alex Padilla ,  Congresswoman Barbara Lee  and Assemblyman Kevin Kiley . 
Signed onto 15 letters of support for issues important to those living with a rare disease submitted to the FDA, House of Representatives, and the Senate.
Jillian Kavanagh, founding member of the OCNDS Compassion Initiative and mom to Ellie, testified at the Massachusetts State House to declare April 5th as OCNDS Awareness Day in Massachusetts.
In April, Jennifer Sills was invited to the Rare Disease Legislative Advocates (RDLA) Quarterly State Advocacy Webinar as a panelist to share how the CSNK2A1 Foundation began building relationships with state decision-makers.
We created our first advocacy one-pager to be shared with policymakers in which we asked members of Congress for their support to improve patient access to rare disease diagnosis, care, and treatment by expanding telehealth flexibilities and creating exceptions to in-state physician licensure requirements when an out-of-state physician provides care to an in-state rare disease patient (or a consult to an in-state doctor) via telehealth.

PARTNERSHIPS & CAPACITY BUILDING . Collaboration is key to amplifying our impact. By forging strategic partnerships with like-minded organizations, research institutions, and industry leaders, we can leverage collective expertise, resources, and influence to accelerate progress toward a cure and ensure that the OCNDS community receives comprehensive support on a broader scale. Here are some of our partnership and resource highlights for 2023:

Added 2 new board members , Sarah Lazar Ghavim and Jamie Miller to the Board of Directors. Sarah is a seasoned brand marketing leader with over 20 years of experience transforming big ideas into tangible products and experiences that have delighted consumers of all ages. Jamie brings a wealth of experience and knowledge to our organization and is already making a transformative impact. As the founder of Orchard Lake Group, a consulting practice focused on operational efficiency and process improvement, Jamie has honed her leadership skills across diverse industries, including start-ups and Fortune 100 companies.
Dr. Rushing prepared a Rare Disease Report about OCNDS for the National Organization for Rare Disorders (NORD) Rare Disease Database. This is important as the Rare Disease Database is among the first places many newly diagnosed rare disease patients and their families turn to.
Dr. Rushing attended 9 conferences : including the Ultragenyx Rare Entrepreneur Bootcamp, World Orphan Drug Conference, Vanderbilt University for their annual ASPIRE Career Symposium, Global Genes Rare Drug Development Symposium, NORD Annual Summit, Global Genes Rare Advocacy Summit, CombinedBrain Annual Meeting, SYNGAP1 Annual Meeting, and American Epilepsy Society (AES).

Dr. Rushing obtained travel awards totaling $1,500 to attend NORD and Global Genes Rare Advocacy Summit. She also received complimentary registration to the World Orphan Drug Conference and AES meetings.

These meetings are important events for networking with researchers, clinicians, and other patient advocacy groups to facilitate new collaborations and learn from others that are successful in the rare disease space.

Jennifer Sills was invited to speak on a panel at the Global Genes Rare Advocacy Summit about strategies for long-term growth.
By invitation only, Jennifer attended the Chan Zuckerberg Initiative (CZI) Rare as One Science in Society conference in Newport Beach, California over 3 days with 58 other CZI grantees.
Jennifer Sills joined the governing board of CombinedBrain, a consortium of neurodevelopmental Patient Advocacy Groups accelerating treatments by pooling data.
Dr. Rushing continued to serve as an advocate steward on the Epilepsy Research Benchmarks Committee.
We established 7 new partnerships .

TREND: as described in the Research section above.

ORPHAN DISEASE CENTER (ODC) JUMPSTART PROGRAM . The ODC, a center within the Perelman School of Medicine at the University of Pennsylvania, works closely with patient groups and foundations, pharma and biotech, and the academic community to drive therapeutic development for rare diseases.

PROBABLY GENETIC . Probably Genetic runs a no-cost, low-barrier testing program for individuals experiencing seizure and/or developmental delay-related disorders.

AGENDA. The mission of AGENDA is to improve outcomes for individuals with all forms of autism by fostering a genetics-first approach to autism and neurodevelopmental disorders research, and by strengthening collaborations among organizations representing genetically defined disorders associated with neurodevelopmental disorders and autism.

RARE & READY. Rare & Ready is a genetic coalition advocating for state policies that mitigate Medicaid program hurdles to ensure that patients with rare and genetic conditions get access to the care they need.

AUTISM BRAIN NET to increase our knowledge of neurodevelopmental conditions, facilitate brain donations, and advance brain tissue research.

EPILEPSIES ACTION NETWORK . Joining fellow epilepsy organizations, uniting our voices for heightened national awareness and rallying for more federal funding and resources to transform research into better patient care.

Founding Board member Francesca DeMartino announced her new role as the Chief Investor Relations Officer at Pfizer.

Conclusion

We stand at the threshold of a year that holds the promise of unprecedented excitement and discovery—2024, a chapter we believe will be our most exciting yet. The seeds we've sown, the dedication we've shown, and the funds we've deployed to advance OCNDS research are on the verge of yielding tangible results.

In the coming year, we anticipate a cascade of insights that will deepen our understanding of OCNDS to innovative treatments and move us closer to the ultimate goal of finding a cure. The investments made in research, the unwavering support of our community, and the shared commitment to make a difference all converge to create a potent force for positive change.

As we venture into 2024, let us carry the torch of optimism, fueled by the belief that our collective efforts can truly transform lives and shape a brighter future. Together, we are not just facing the unknown; we are actively creating a path toward a world where OCNDS no longer casts its shadow on the lives of our loved ones.

Alphabet Soup by Elisabeth Mellinger

Mon, 16 Oct 2023 15:15:00 GMT

When my child was born I immediately knew something was "off" and for the next 13 years I searched for an answer. At the age of 8 we got 2 diagnoses: Generalized Anxiety Disorder (GAD) and Borderline Cognitive Functioning. With no reasonable explanation in our family or medical history, I kept looking, kept insisting to medical professionals that something else was going on, because there were physical characteristics in addition to mental symptoms.
At age 13 we got our answer: a rare genetic condition caused by a mutation to the CSNK2A1 gene resulting in Okur-Chung Neurodevelopmental Syndrome (OCNDS). It explained every symptom, every delay, every mental health struggle. Little did I know it would be just the beginning of finding the appropriate care for my child. You see, at the time, my child was one of less than 200 people in the world with this condition, no medical provider I interacted with knew what to do with the diagnosis I was now presenting to them, let alone any teacher or care provider that would join our team of helpers. So I continued, collecting letters for the alphabet soup that would describe my child so that our team would see familiar diagnoses to help them help us.
There were things in the back of my mind that kept pushing in and I just kept asking, even after I received reassurance. "She doesn't have autism, she's too social! she makes eye contact!" they would say, but still that nagging feeling would linger: yes, but she has never made a friend her own age, she is awkward and needs to be accommodated in conversations, what does that mean? I even asked private assessors to add an ADOS (the standard assessment for Autism Spectrum Disorder) and they would refuse, saying there's no way that was part of her picture. Thankfully we finally connected with a developmental pediatrician who heard me and referred us for an autism assessment at the specialized clinic and low and behold, not only did my child have Autism Spectrum Disorder (ASD), they were severely impaired in some areas AND they had a moderate language disorder (MLD) that would explain their difficulty in following conversation and directions in daily life. They actually removed one diagnosis of Mild Intellectual Disability and replaced it with Specific Learning Disorders (SLD) in math and reading.
It was a game changer! To be heard! FINALLY! My child was not just "slow" and "on their own timeline" . They had concrete struggles with lists of solutions that had worked in the past, but I had so much trouble convincing teachers to try them because we didn't have the official diagnosis. Now they were willing to try. Why now? Why was I not considered an expert before? Why did I need to wait 16 years for validation? I felt relief and anger all at once.
And then another blow, one I dreaded, but did not expect. As we were trialing stimulant medication for ADHD, the things that I thought were "hyper focus" when describing them to the same developmental pediatrician said. "oh, that sounds like a compulsion, have you looked into OCD?" Um, no, that is the dreaded diagnosis. The debilitating diagnosis I have seen almost destroy members of my family. The diagnosis I had been pushing down plopped down in front of me. So another referral came, this time, for the first time, to a psychiatrist. Within 15 minutes we had more letters to add to our alphabet soup: Obsessive Compulsive Disorder (OCD). Thankfully this psychiatrist was also a sleep specialist and I had pushed for an at home sleep study because my child was often tired and talked in their sleep. He took one look at the sleep study (that I had been told was normal) and said, "well, it's not showing signs of apnea, but she's not going into deep sleep, she stays in light sleep all night." YES! I knew that, why? I asked. So he asked my child (who had not uttered a word in the session due to their selective mutism) "when you are going to sleep, do your legs sometimes feel funny?" They nodded emphatically and started writing on their paper: sometimes it feels like I have to readjust my feet a little bit.
Lightbulb: the psychiatrist turns to me and says, "restless leg syndrome" (RLS).
OCNDS - CSNK2A1 gene mutation GAD ADHD ASD SLD - math and reading MLD OCD RLS

Those are the letters of our alphabet soup. When you are rare, or in our case ultra rare, sometimes one diagnosis isn't enough. It has been my job to dig and find all the letters that describe my one extraordinary kid so that they can live the best life they possibly can. No one else can do that for them.

The Power of Newborn Genetic Screenings: How Newborn Genetic Screenings Can Change the Diagnosis

Thu, 05 Oct 2023 06:42:00 GMT

By Penelope Gatlin

October 2023

When our son was born in 2012, he was hypotonic, severely jaundiced, had feeding difficulties and features such as epicanthic folds and small low set ears. We were told immediately that doctors had suspicions of a genetic syndrome. At that time, genetic testing was limited and once abnormal karyotype, Trisomy 21, and Fragile X were ruled out, we left the hospital with an 8 day old and no diagnosis. While no testing was available at that time to identify the ultra-rare syndrome my child had, because it wouldn’t even be identified until 4 years later, I can only imagine the difference it would have made to our journey to have such an answer sooner.

Instead, we were unprepared and actually unaware that just because a diagnosis hadn’t been made then that it didn’t mean there wasn’t in fact a rare disease present. Instead, we dealt with issues as they came and worried and wondered what would be next. From feeding issues and reflux and constipation, to low muscle tone and delayed walking, to speech delay, social and emotional delays, toileting delays, diagnoses of developmental delay, anxiety, situational mutism, sensory processing disorder, and autism, until finally genetic testing that revealed the diagnosis that we’d waited 7 years to find out. While receiving a diagnosis can seem scary, not having an answer but knowing there must be one is even more so.

In 2019, the day I clicked onto the portal to see the test results, the largest word on the page was POSITIVE. My heart stopped for a second. For the first time, I read the words “Okur-Chung Neurodevelopmental Disorder.” A roller coaster of emotions ensued, including sadness that we hadn’t known this from birth because it would have made us as parents more prepared, and given us more understanding about what might arise next. Relief that we had an answer, grateful that this syndrome had been identified and that he was among one of the first hundred diagnosed with it in the world, and glad we had the privilege to have access to the testing. Excitement that we can participate in future research. Fright that there’s so much we don’t know about OCNDS, and happiness that there is something that we do. A feeling that we are no longer shooting in the dark and have a small but supportive community to rely on and learn from. I am hopeful that one day, all newborns with features like my child will be tested at birth, so parents can have access to the answers, support, and interventions and therapies that can best help their child as soon as possible.

Navigating the Seas of Adulthood: A Mother's Reflection on Parenting an Adult Child with OCNDS

Fri, 25 Aug 2023 14:46:00 GMT

By: Mom of 18 year old Child with OCNDS
My Child turned 18 in January. 18 has been the toughest stage for me, as a mom, to navigate. I felt much more capable in the days of juggling multiple doctor appointments, therapy appointments, and navigating the school system than I have felt thinking about long-term preparing for and parenting an adult child with a disability. 18 hit me differently than any other stage.
I feel like we’re at a bit of a crossroads now that they have entered adulthood. It’s looking back to see how much we’ve gone through but how far we’ve come. It’s a change in perspective and realizing that now that they are 18 and an adult they should have more ownership over their story and telling it or allowing me to tell it. It’s them having the right to privacy and encouraging them to self-advocate, it’s supporting independence & allowing them to develop their identity as a person having OCNDS. It’s reflection and thinking about things that I wish we had done differently and also appreciating all the things that I’m really glad we did & the people who helped so much along the way.
This journey with disability is like an ocean. Some days you’re in it, tackling the waves as they come. At moments you’re riding high, surfing confidently on the biggest wave you could ever imagine, only to come crashing down on the shore. There are days where you’re in a calm ocean floating along just enjoying the rhythmic pattern - gentle and expected and stable. You get used to that, get relaxed, and then a gigantic wave comes & threatens to drag you under. In those moments, sometimes you’re going to rise to the top and ride the wave to the shore. In other moments, you’re going to get rolled & bounced around until you land on shore with some scrapes and scars. But, you keep going back. Sometimes you’re relaxed when you enter that water, other times you’re exhausted but you know that you love the ocean so you just keep going back, even when you are not always sure what the conditions are going to be.
I think the biggest advice I could give to parents who are just starting out is to be honest about where you are in your journey & to reach out either as support or for support. Disability is not a dirty word and it’s not something to be afraid of. Is it overwhelming, scary, & heartbreaking sometimes? Absolutely! Is it celebration & appreciation of small moments with more joy than you can imagine? Also, absolutely true. Sometimes it’s so hard to come to peace with and realize that your child might not follow a “traditional“ route because of disability. At other times it’s finding positives in that. I promise you, parents of younger kids, that there are great moments ahead!
In this past year, since turning 18, my child had the opportunity to do things that I never thought they would - they served as manager for a varsity sport, they participated in a school-wide unified sport and earned a varsity letter, they decided they wanted to try to attend their junior prom and spent the entire night on a dance floor with a group of peers who saw they wanted to join in and kept them dancing! Did they do all of these things in a “traditional” way? No. Does that make any of these huge milestones any less important? Also, no. I never ever thought I’d see them do so many of the things they have done over the years. They worked hard and it took time. There are things that I know they won’t likely do which can still be heartbreaking, but my child will still have a good life.
Our journey has been a little bit different than some because our family did not receive our child’s diagnosis until they were age 15.
Sometimes I think about what it would’ve been like to have an answer when my child was two or three years old. I don’t think one journey is better or worse than the other, I just think that they’re different. We spent the majority of their childhood addressing issues as they came up, one by one. We had no clue what to look for. It was overwhelming because we never totally knew what was going to come next. We had faith in the fact that we were doing the things that we needed to do regardless of the fact that we couldn’t connect the dots between all of the different health and developmental issues that they had with one answer. Honestly, by the time we got our diagnosis, it was mostly a feeling of disbelief. I didn’t think I would ever see a diagnosis for them and in many ways it changed nothing that we were doing. We did have a few health things checked out that were recommended to us. The best part about getting a diagnosis was finding this amazing OCNDS community. It has helped in so many ways and I feel so lucky that there is a foundation & an organization that is active and knowledgeable and trying to make a difference.

I want to lend support to those of you who have younger children, or those just starting out on this journey. It is hard, it is different. But, there is so much that is positive in the journey, and so much that is possible for our kids to achieve!

Why I Should Have Gotten the Autism Diagnosis for My Child Early On (or Why I Did Not)

Wed, 23 Aug 2023 11:07:00 GMT

For 16 years, my child displayed numerous symptoms that left us searching for answers, but a genetic diagnosis remained elusive. I considered having my child evaluated for autism to shed light on their situation. However, when I reached out to teachers, doctors, and therapists, I received frustrating responses:

“Your child is too friendly to be autistic.” This statement made me doubt the possibility of autism because my child was sociable.
“Your child can transition from one activity to another – they are not autistic.” Hearing this, I questioned whether my child’s ability to shift activities invalidated the need for an autism evaluation.
“Your child can look me in the eye and answer questions – they are not autistic.” Observations like this made me second-guess the idea of autism, even though my child faced various challenges.
“Getting a diagnosis that does not apply to your child would be a big waste of money.” Despite my persistent concerns, this cautionary advice about the evaluation costs left me hesitant.

We finally pursued an evaluation when my son turned 20, and it confirmed that he is indeed on the autism spectrum (severe side). Looking back, I regret not taking this step sooner. I should have pursued the autism diagnosis before we received the genetic diagnosis. There are several benefits we could have gained as a family if we had pursued an early diagnosis:

“Early Support Is Crucial:” I now realize that early intervention could profoundly impact my child’s development. We could have accessed the right services and therapies much earlier with a diagnosis.
“Understanding My Child Better:” I struggled to comprehend my child’s behaviors and communication difficulties. An earlier diagnosis could have provided insights into their unique needs and thought processes. The education could also help me explain how to react to my child’s behavior to family members.
“Tailored Guidance and Resources:” A diagnosis could have opened doors to specialized resources and guidance, enabling me to provide the best possible support for my child.
“Connecting with Others:” Being part of the autism community might have connected us with other parents who understand our experiences. Sharing and learning from each other could have been invaluable.
“Planning for the Future:” Knowing more about my child’s strengths and challenges could have helped me better plan their future, including education, career, and overall well-being.

Depending on your location, many states offer funding and support if your child has an autism diagnosis. I wish I listened to my voice instead of being swayed by experts who didn’t fully understand my child’s situation.

Ultimately, I know this decision is significant, requiring careful consideration by parents. Looking back, I wish I had trusted my instincts and sought an evaluation sooner to improve my child’s life.

Forward Together: 2023 Run, Walk & Roll 4 OCNDS

Fri, 28 Jul 2023 16:59:00 GMT

Sign up today for our Forward Together Run, Walk & Roll on October 14th & 15th and receive a limited edition Forward Together event t-shirt! You can participate from anywhere! Invite family and friends to join you and help us bring awareness to OCNDS.

Sign up at https://loom.ly/UNhby70

DO I NEED TO RUN TO PARTICIPATE? Absolutely not! This is called a run, walk, or roll. Our goal is for you to come together with others to bring awareness to OCNDS safely.

Invite some friends and family to join you to move FORWARD TOGETHER for OCNDS. You can meet at the park, your street corner, the beach, or anywhere - get out of the house and move! You can RUN. You can WALK. You can ROLL whether on a bike, wheelchair, walker, scooter, roller skates, or rollerblades.

#ForwardTogether #ocnds #csnk2a1 #timeisnow

Kirsty's School Hosts OCNDS Awareness Day

Tue, 18 Jul 2023 17:05:00 GMT

Written by: Claire Whitehill

Kirsty goes to a mainstream school that has an Autism unit attached to it, and she spends much of her time in the Rainbow Centre away from the rest of her class. She has been at the same local school campus since she was 4. She is now 11 and loves walking, cycling or scooting to school around the corner from home along with her friends, which she has known since they began in nursery together. Many of them are protective over her because she is much smaller than them and because they have grown up noticing that she behaves differently to them.

Kirsty is often isolated from her peers at school, although she spends afternoons in the same classes as them, she does not join them in the playground for break or lunchtime and rarely uses the school cafeteria. She is afraid of being knocked over by the other children who are larger than her, finds it difficult to cope with the noise of the large numbers of children due to sensory overload and prefers playing on her own due to the social communication difficulties she experiences due to the Autism. This means that although she is a little celebrity around the school, most of the other children don’t understand why she is different and sometimes separate from them.

The school held an awareness day for another rare disease earlier this year, which gave us the idea to ask them to do the same for OCNDS and the CSNK2A1 Foundation. They were unable to do this on April 5th OCNDS awareness day due to the Easter school holidays, so we arranged to celebrate on 21st June instead. They had also included an article in the school newsletter about the monuments lighting up on April 5th and links to the newspaper articles which Kirsty featured in at the time.

The school advertised the event in the parents’ newsletter and invited children to wear mufti, their own blue and green clothes to school instead of uniform for a £1 donation. They also sourced fundraising doughnuts from Krispy Kreme, which are £7.50 for 12 pieces, which they then sold for £1 each and raised £522 from the mufti and cake sale combined. The school also wrote an account of the event with photos in the newsletter at the end of the week.

The school was decorated with green and blue balloons and our OCNDS banner was hung on the school gate to greet the children as they arrived. Jennifer kindly sent tie dye t-shirts over for the teachers and they were very popular amongst the staff and students, with many people asking if they could have one. We also shared wristbands and window stickers for the event.

Some of the children made blue and green posters to advertise the event, which were displayed around the school. Kirsty’s teacher made a presentation using our brochure which was used by every class teacher to educate the children about OCNDS. It included the main symptoms, the word cloud about our children’s character traits, some information about the monuments which had lit up on April 5th and photos of the newspaper articles which Kirsty had appeared in.

This has helped not only to elevate Kirsty’s celebrity status within the school and local community, but also to allow the children to understand better why Kirsty is different to them and may not join in with their games in the playground. Often children ask us why Kirsty is so small and behaves in a way which is so much younger than her peers, hopefully this will go some way towards raising awareness and understanding, and encouraging acceptance within the community.

We were very touched that the school had gone to such a great effort to make the event happen and to make us feel like we are included as part of the school and the local community. It really meant a lot to us and we are incredibly grateful for their support.

New Partnership with Probably Genetic

Tue, 27 Jun 2023 16:54:00 GMT

Probably Genetic is a group of geneticists, engineers, and patients seeking to help people with rare diseases access genetic testing. The company has recently launched a no-cost genetic testing program for people with seizures or developmental delay-related disorders. Eligible individuals can receive whole exome sequencing at no cost. This testing analyzes all of the protein-coding regions of your DNA for disease-causing mutations.
Eligibility

To participate, candidates must reside in the United States. Eligibility for the program is determined by a brief, easy-to-understand online quiz. Care partners, friends, or family members are encouraged to submit on behalf of their loved one if their loved one cannot complete the Symptom Checker without assistance.

How it works
Go to the Symptom Checker website on any internet-connected device. Answer the questions in their entirety. It should only take 5-10 minutes.
The Probably Genetic team will thoroughly evaluate your Symptom Checker response to assess your eligibility. This typically occurs within one to two weeks.
If you are eligible, you can claim your test, and the lab will send a kit right to your door. Collect a saliva sample and ship it back in the pre-paid box. We can also assist you in scheduling a USPS pick-up.
Results are available in 6 to 8 weeks. This test shows all disease-causing mutations related to your reported symptoms, even those that are not seizure-related.
If genetic testing is offered, you will have access to post-test genetic counseling with a board-certified genetic counselor. The genetic counseling sessions are virtual and are included at no cost to ensure you can make informed decisions and understand the results.
View the status of your Symptom Checker submission and/or test kit through the patient portal. You can download a PDF copy of your genetic report, as well as a file containing your raw genetic data.
Take the Symptom Checker Here: https://www.csnk2a1foundation.org/genetic-symptom-checker

The Probably Genetic team is always open to feedback so the program is as successful as possible for this community!

Research Explained: Two novel CSNK2A1 variants associated with mild Okur-Chung neurodevelopmental syndrome phenotype

Wed, 14 Jun 2023 14:56:00 GMT

Authors : Mohamed Wafik, Heidi Kuoppamaa, Priyal Hirani, John Hignett, Suzanne Lillis, Karine Lascelles, Shweta Sardesai, Kumudini Gomez, Muriel Holder-Espinasse

Research Explained By: Gabrielle Rushing, PhD

Research Simplified Summary:

This study was a short case report explaining the discovery of two new DNA variants in the CSNK2A1 gene that are causative for Okur-Chung Neurodevelopmental Syndrome (OCNDS). The individuals who had these new DNA changes showed milder symptoms compared to what was known before. One patient had seizures but didn't experience any delays in their development. The other patient had some differences in their physical features like a smaller head and low-set ears. They also had mild delays in their development, but they were doing well in regular education programs and didn't have seizures.

This report shows that OCNDS can vary in the symptoms people experience and how severe those symptoms are. It also emphasizes the importance of finding new patients and involving affected individuals in research. This will help us understand the range of symptoms better and make connections between the DNA changes and the type of symptoms that appear. By improving our understanding of how these DNA changes affect the symptoms, we can develop better strategies for treatment in the future.

Learn More

Save the Date for the 2024 Drive for Diagnosis Golf Classic

Thu, 11 May 2023 16:56:00 GMT

Save the Date: 2024 Drive for Diagnosis Golf Classic

Benefitting all OCNDS research programs

Monday - April 15, 2024 El Caballero Country Club Tarzana, California

National Sibling Day: Empowering Rare Siblings and Ways to Help Them Feel, Seen, and Heard

Mon, 10 Apr 2023 05:59:00 GMT

Today on National Sibling Day, we shine a spotlight on our rare siblings. Growing up with a brother or sister with complex healthcare needs has unique benefits and challenges. Rare siblings live uniquely complicated childhoods. Whether bringing a friend home and worrying about a sister’s embarrassing behaviors, or wishing for a brother able to play baseball with them, they are always facing situations many of their peers don’t face. Having a sibling with disabilities or special healthcare needs is a complex experience but can also be rewarding. Some siblings feel their place in the family gives them an understanding of difference, diversity, and helping others. Other siblings do not feel this connection and might struggle with these differences.

As you are working hard to create a world that accepts and celebrates differences, don’t leave your typically developing child out. Here are a few ways to help them feel seen, valued, and heard:

I highly recommend checking out The Courageous Parents Network’s video Rare Disease in Children: Voices of the Siblings

*Jessica Ruth is the Executive Director of Treehouse Tribe and a certified Sibshop facilitator with a Masters in Special Education. Her dedication to supporting families of individuals with disabilities led her to volunteer at the CSNK2A1 Foundation, where she serves as a sibling support educator. Jessica's expertise and commitment make her a valuable asset to the OCNDS community.

We Were Never Alone, You’re Never Alone

Thu, 23 Mar 2023 16:00:00 GMT

OCNDS Awareness Day Reflection by Melanie Kretas, OCNDS Parent

October 15, 2010, changed our lives forever. Not only did I become a parent to our second child, but we also became parents to a child with significant and unique special needs.
A few weeks after Ava was born we noticed her breathing sounded different as well as her eating habits were different. Things just didn’t feel right. Her tiny body made sounds we had never heard before and her awkward body movements were starting to alarm us. I spoke with doctors and they asked that I videotape Ava during these odd episodes. I taped a few of Ava’s episodes and brought them to be seen. In what felt like a blink of an eye (a few days later on a Saturday) we were in the operating room at Boston Children’s Hospital.
They thought she had an obstruction in her airway. In fact, one of the many things that crossed their minds was a raised hemangioma (birthmark) just like the one on her older sister's arm. I was shocked to hear that they thought this could actually be in her throat! We quickly learned there was an obstruction in her airway. Her epiglottis did not work properly. Her Epiglottis (flap of cartilage) stayed covering her windpipe versus moving up and down to allow food and air to pass through safely. Ava needed surgery to fix her malformed epiglottis. This surgery was called a Supraglottoplasty. Unfortunately, we will never know how successful this surgery was for Ava, as we were still dealing with many breathing and feeding difficulties.
Throughout this period of time, Ava also had a Modified Barium Swallow. This would show us a deeper look into Ava’s eating and swallowing. At 5 months old, in March of 2011, we were told that Ava did not pass this study. They pulled us aside and let us know we wouldn’t be leaving the hospital that day to go back home. We were told it wasn't safe to go home with Ava, and that she needed a feeding tube inserted into her stomach ASAP. Every time she drank something, it showed the liquids going into her lungs, not her stomach. She was diagnosed with silent aspiration and pharyngeal stage dysphasia. Her body went into distress every time she drank fluids.
Fast forward to a week later, we finally left the hospital. We walked out of that hospital feeling like our lives had just been flipped upside down. We felt petrified and alone, but our journey had just started.
After endless appointments with Neurology, GI, genetics, Endocrine, ENT, pulmonology, nutrition, and hematology, we still were on a hunt for answers. Countless labs, scans, procedures, going back and forth with our insurance company that didn’t want to cover Ava’s labs that were being sent off to California to a special lab for her whole genetics sequencing. We were exhausted, to say the least.
We finally received Ava’s genetic report. Ava’s future was being held in my hands, on a piece of paper from the lab. No one knew what these jumbled-up numbers and letters amounted to. They told me they didn’t know what her deletion meant and if it was significant or not. They told us we’d hopefully find out one day. We were determined our journey for answers didn’t end here, we were to keep searching for answers for our daughter and her future.
A year later, In September of 2017, Ava was almost 7 years old when we experienced our first real glimpse of hope. Dr. Okur reached out to my family. He was kind, and patient and answered as many questions as he could. In fact, Ava was the 2nd patient to be discovered in the world with this rare genetic disorder, Okur-Chung Neurodevelopmental Syndrome. There were only a few more kids discovered at this time, but Ava was one of them! We now had a direction to follow and navigate and now an extremely small community with families just like us, to meet! That day will forever be etched into my heart.
We were now part of a small, wonderful and rare community. Finding the OCNDS community was like finding a second home and family. We finally found other families who get it, who understand what we are going through and we all support each other. I got to make lifelong friendships and beautiful long-lasting memories with them as well.
Thanks to Simons Searchlight and the family that founded the CSNK2A1 foundation, we’ve been able to attend conferences and meet with the researchers who are studying this syndrome. They’ve given us hope for treatments that can improve our children’s quality of life.
Rare is not bad nor scary, in fact, it means you’re one of a kind. I thought I knew what rare was until Ava came into our lives, along with the entire Okur Chung community.
Ava was diagnosed with Okur-Chung Neurodevelopmental Syndrome at a very young age, in fact, she was the second patient to be discovered. She showed me what rare looked and felt like.

I am not the same person I was before we found out Ava’s diagnosis. We did not plan on this life. Her diagnosis tore me into pieces, then built me back up into a better human. We were never alone, you’re never alone.

Haiku for Helio

Mon, 27 Feb 2023 13:45:00 GMT

By Aurelie Froment

Avancer ensemble

Depuis l’ombre vers la lumière

Helio mon soleil

Rare Disease Day

Fri, 24 Feb 2023 14:11:00 GMT

Words that Come to Mind as I Reflect on my Filip for Rare Disease Day

Wed, 22 Feb 2023 15:24:00 GMT

By: Karolina Zwolinska, OCNDS parent from Poland
cheerful sunny helpful fight for the best health math problem outbursts of anger and outbursts of happiness

I love him more than life, and I can't imagine my life without him

Unique as a Snowflake

Wed, 15 Feb 2023 14:06:00 GMT

2023 Rare Disease Day Reflection

By Amber Reynolds

When I look at snowflakes, I notice how beautiful they are.... all so unique, and all so different. Different shapes, different sizes, fluffy ones, tiny ones, intricate ones, to simple ones. A snowflake is unique because its shape evolves as it journeys through the air; no two will ever be the same. Even two flakes floating side by side will each be blown through different levels of humidity and vapor to create a shape that is truly unique.
Harper and her syndrome, Okur-Chung Neurodevelopmental Syndrome, remind me a lot of a snowflake.
When considering uniqueness, not only is Harper unique and not like any other child I have ever met, but she is also just as unique to other children who also have Okur-Chung Neurodevelopmental Syndrome. Right now there are only 200 kids IN THE WORLD, who have Harper's syndrome caused by a mutation in the CSNK2A1 gene. Harper is rare, Harper is unique!
My little snowflake loves shiny objects, candy, she bounces and skips around-hence her nickname, hippity hop, she loves speed and thrills, her heart is full of love and she's so caring for others, she uses a communication device to talk, she is scared of hand dryers in restrooms, she is stubborn and strong-willed, she has trouble falling asleep at night, she is in the 6th grade but can't read or write, she stems by flapping her hands when she's excited, she loves outdoor adventures like hiking and skiing, she loves her friends, her smile is infectious, and she's pure JOY to be around! Harper is rare, Harper is unique!
The CSNK2A1 community continues to evolve as others share acceptance and awareness. So just as a snowflake, Harper will continue to evolve, be unique, and beautiful. ❄️❄️❄️�55358;�56589;�55358;�56589;�55358;�56589;❄️❄️❄️

#beunique #uniqueasasnowflake #rare #raresyndromeday #csnk2a1 #okurchungneurodevelopmentalsyndrome

Rare Disease Month Reflection 2023

Mon, 06 Feb 2023 13:03:00 GMT

By Keri Ninness , in honor of rare disease month and our privilege in raising someone with it.
In years past, this month meant validating and honoring Thomas and his compatriots in their daily trials, silent sufferings, and herculean efforts for normal tasks.
In the 10 years living with rare disease, our lives have largely revolved around Thomas’s therapies, medical specialists, school-based interventions, and daily trial and (so so often) error to find solutions to his challenges.
Rare disease has meant years of sleepless nights because his uncooperative hands couldn’t pull up his blankets or his sensory processing struggles sent him sleeping in our closet or outside our door.
It has meant asking our other children to please hold on, give mama a minute, and to forgive her when she never came to them after that minute was up. It has meant siblings striving to understand their brother’s needs and having to (so so often) prioritize his over their own very real, very valid needs.
It has meant years of filling out forms, talking to insurance companies, and following up with doctors, therapists, coaches, teachers, and administrators.
Lately, though, rare disease is different. He has miraculously graduated from outside of school therapies. He only sees a few specialists every few months and he is thriving in school. Instead, rare disease has come to mean, “why am I different? Why is this hard for me? Why do I get picked last? Why does a huge crowd at a church small group feel intolerable to me? Why does my stomach hurt all the time? Why do I melt down sometimes?”
Rare disease now is about coming to terms with the hard, good story we promise Thomas that God is writing for him. It is about helping him be proud of who He is and whose He is. It’s about celebrating big wins and talking through hard losses.
To all the children walking with rare disease, never forget this - You are a damn rockstar. And to the parents and caregivers? God makes zero mistakes but yes, this crap is hard every day and we see your silent suffering. We raise our vodka tonic to you.
To Mary Kate, Tim, Elizabeth and David- we are so sorry for the times you have had to wait or felt unseen while we had to prioritize Thomas. This good, hard story is yours too and we pray you steward it well, infused with the compassion, empathy, and understanding that can come from loving someone rare.
To Thomas, Jeremiah 29:11 my boy. A front row seat to His plans for you is among my very greatest privileges in life- even if you give dad all the credit for your successes �55357;�56473;

Save the Date for the Drive for Diagnosis 2023 Golf Classic

Fri, 20 Jan 2023 02:54:00 GMT

Save the Date for the Drive for Diagnosis 2023 Golf Classic

To benefit the CSNK2A1 Foundation & TGEN’s CENTER FOR RARE CHILDHOOD DISORDERS in their collaborative efforts to diagnosis and find a cure for Okur-Chung Neurodevelopmental Syndrome

Monday - April 10, 2023 El Caballero Country Club Tarzana, California

2022 Year in Review

Wed, 21 Dec 2022 13:45:00 GMT

Our theme for 2022 was "No Mountain Too High." It serves as a poignant reminder that this year has underscored the remarkable power of our collective voice, whether big or small, to effect positive change in the world.

Okur-Chung Neurodevelopmental Syndrome ("OCNDS") is characterized by symptoms such as speech delay or inability to speak, epilepsy, global developmental delay, autism spectrum traits, cognitive impairment, hypotonia, and feeding difficulties, ranging in severity and significantly impacting daily life.

OCNDS families embarking on this rare disease journey face numerous hurdles, from diagnosis to care, treatment, and the quest for a cure. On average, it takes seven years for families to arrive at the correct diagnosis. In 2016, when families received a diagnosis, there was no foundation, information, website, or supportive community for OCNDS families. In response, we took the initiative and founded the CSNK2A1 Foundation, paving the way for our mission to find a cure for OCNDS and ensure those affected lead happy, fulfilling lives. Science is advancing rapidly, overturning the belief that rare diseases like OCNDS are incurable.

With the generous support of our donors, we are the driving force behind OCNDS research, a stark contrast from our initial days when there was only one paper describing the syndrome.

We firmly believe in the power of teamwork to overcome obstacles. Our researchers have come together, sharing data, publishing research findings, and, notably, engaging with OCNDS families to understand their daily struggles firsthand.
The journey to find a cure for OCNDS continues, and together, we stand united, undeterred by any challenge, for there is truly no mountain too high for our community.

Highlights from 2022:
Research Update:
Two critical research papers were published by researchers funded by the Foundation, shedding light on the implications of a common OCNDS mutation (K198R) and comparing OCNDS to a related syndrome called POBINDS. The findings will help guide future treatment approaches.

Our dedicated team of researchers expanded to over 30 scientists across six leading institutions worldwide.
Continued progress through our dedicated OCNDS research program at TGen.

Engaged Sampled to make 4 Isogenic Control lines, adding to our research toolbox to aid in disease modeling and drug screening.

Welcomed new Scientific Advisory Board member Dr. Tika Benveniste, bringing extensive expertise in signaling pathways involving CK2.

Hosted quarterly scientific roundtables to foster collaboration and progress.
Together with Simons Searchlight, hosted our first in-person scientific conference in Baltimore, Maryland.
Through our contact registry program, notified families of a research opportunity with Drs. Chung and Okur for a study on less common CSNK2A1 gene deletion variants.

Continued our partnership with Simons Searchlight on the OCNDS/CSNK2A1 natural history study and iPSC lines. We are actively recruiting families to join Simons Searchlight. Ninety-three individuals have registered, with ninety giving their consent. Seventy-four participants have provided lab reports, fifty-eight have completed their medical history profiles, and twenty-two have generously contributed blood samples.

Began collaboration talks with Unravel Biosciences to determine whether we can repurpose approved FDA drugs as a treatment option for those with OCNDS.

Awareness:
On Rare Disease Day, we united with 300M+ globally to advocate for access to diagnosis, treatment, care, and social opportunities for individuals with rare diseases.

On April 5th, our 3rd International OCNDS Day, we brought global attention through an awareness video and illuminated landmarks, such as Niagara Falls and High-Level Bridge, and local community events.

In Alabama, a local TV segment highlighted one OCNDS family and their excitement about receiving a travel grant from our Foundation to attend our in-person conference.

"Once Upon a Gene" podcast by Effie Parks, an impactful platform for rare disease parenting, has a monthly series, "A Rare Collection," highlighting rare disease voices. May's theme, "UP AT NIGHT," featured President Jennifer Sills sharing her powerful rare disease story.

Reynolds Family's Awareness Day celebration at Brewability in Englewood, Colorado, united the community, featuring live music and exciting giveaways, and Brewability donated 15% of sales to support CSNK2A1 Foundation's research efforts.
Harper, a child living with OCNDS, was featured in an inspiring painting by Matt J. Harline celebrating her skiing achievements. Artist Harline aims to create a book of paintings showcasing the accomplishments of children with rare disorders to be featured in hospital art exhibits and a book highlighting the achievements of children with rare disorders.
In November, we earned a 2022 Top-Rated Award from Great Nonprofits.

Fundraising:
Our annual golf tournament in Tarzana, California, at El Caballero Country Club, set foundation fundraising records, raising over $380,000 thanks to 133 golfers and sponsors and our outstanding golf committee Jennifer Sills, Micheal Kaplan, Jr., Joey Behrstock, Mike Greenfeld, J. Michael Grossman, Mike Grossman, Connor Hooper, Erin Massey, and Avisha Patel.
Successful virtual Run, Walk & Roll event raising over $10,000 with 192 participants across six countries.

For Giving Tuesday, we released a video featuring OCNDS families and researchers; the campaign raised over $150,000 for research, which included a $50,000 matching donation from loyal donors Joan and Charlie Davis.

OCNDS dad, David Cole, raised funds through a Krispy Kreme donut sale, selling over 75 boxes of donuts.

Empowerment, Education & Connection:
Together with Simons Searchlight, HIVEP2, MED13L, and SETBP1 Foundations, we hosted our first in-person conference since 2018, uniting families, researchers, and clinicians. Our families had a unique opportunity to participate in research on-site as Simons Searchlight provided grants to over four researchers to conduct research across groups at the conference.
Awarded travel scholarships to seven OCNDS families to offset travel costs to our in-person conference.

Donors Joan and Charlie Davis generously donated a 3-day hotel stay for each OCNDS family attending the conference to help remove the financial barriers to participation.

Hosted an additional virtual Q&A one month after the conference with distinguished experts Dr. Wendy Chung, Dr. Volkan Okur, and Dr. Isabel Dominguez as another invaluable opportunity to gain insights and clarity and engage in meaningful dialogue with these prominent researchers.

Our 2022 conference closed with a poignant quilting event that underscored our conference theme, "We Got You Covered," highlighting our commitment to no OCNDS family walking alone on this journey. Families and researchers created quilt squares memorializing hopes and dreams, which volunteer Fern Ruth assembled into an incredible quilt symbolic of our unwavering support to OCNDS families.

Selected our second Parent Advisory Board (PAB) to serve 2022-2024, and they participated in 1 of 2 Dare to Lead™ workshops led by executive coach Katie Fredericksen.

PAB completed our community's second needs assessment survey, with active participation from 43 OCNDS families. The findings will significantly influence our research priorities. Interesting insights included:

An overwhelming 95% of those surveyed reported feeling supported by the Foundation.

The types of therapies that families believe have greatly benefitted their children living with OCNDS include speech, occupational therapy, physical therapy, early intervention, equine therapy, and sensory integration therapy.

The answers varied when asked what a meaningful change would be for each family. Some meaningful changes mentioned were using the toilet independently, speaking 100 words, having fewer break-through seizures, having a g-tube removed and eating by mouth, developing friendships, and having the stamina to hold a job.

Moved from quarterly family Zoom calls to monthly family Zoom calls. We repeatedly heard poignant feedback regarding how families felt after the meetings, such as "Connected," "Grateful," "Not alone," "Understood," "Excited," "Togetherness," "Hopeful," and "Supported," reaffirming the profound importance of these gatherings in fostering unity and hope within our community.

We continued our partnership with Wordly AI to provide live-caption translation during our family Zoom calls to remove the language barrier to participation since we have OCNDS families from over 32 countries, speaking 19 languages.
OCNDS Dad Brian Reynolds hosted a new dad-focused discussion group to support dads.

Launched a new OCNDS Compassion Initiative focused on empowering OCNDS families to become advocates and educators within the medical community. This important effort aims to foster greater understanding and empathy for the unique challenges faced by rare disease families in obtaining proper diagnosis, care, and treatment.

Our President, Jennifer Sills, was invited to participate in the Ultragenyx Rare Entrepreneur Boot Camp, an invaluable opportunity made possible by Ultragenyx, a leading biopharmaceutical company committed to pioneering novel treatments for severe rare and ultra-rare genetic diseases.

Welcomed thirty-six new OCNDS families into our ever-growing community, hailing from Norway, the UK, Denmark, the USA, Romania, Italy, France, Canada, Taiwan, Poland, Spain, Albania, Brazil, China, Stockholm, and Slovenia.
Forty-one dedicated volunteers generously contributed their time and expertise. These volunteers span the globe, representing regions such as Australia, Italy, Canada, Texas, Los Angeles, Chicago, New York, and San Francisco.
Added a part-time staffer, Beth Chaffin, to enhance family support and operations.

Partnerships & Resources:
Joined CombinedBrain consortium to accelerate treatments by pooling data across rare disease groups.
PAB created the OCNDS Awareness Card, a printable, easy-to-carry awareness card, used as a tool to help diffuse awkward moments with and/or unwanted intrusions by family, friends, and/or curious onlookers, while spreading awareness.

Conclusion
As 2022 comes to a close, we stand on the brink of exciting opportunities for 2023. We are poised for expansion and growth, bolstering our relentless pursuit of promising research. To further our mission, we are actively searching for a Science Program Director—a dynamic leader to steer our scientific endeavors. The Chan Zuckerberg Initiative's (CZI) Rare as One program grant is a testament to our ongoing dedication and a means to advance our work. This grant validates our efforts and aids in funding the pivotal Science Program Director role. The year ahead is full of promise, and this remarkable journey underscores the extraordinary transformation from a volunteer-based foundation in 2016 to the dynamic, growing force for change that we have become.

Growth Hormones & Ocnds

Thu, 08 Dec 2022 17:08:00 GMT

Families often ask about the use of growth hormones and OCNDS. In September 2022, Dr, Chung addressed the use of growth hormones and OCNDS. Watch and learn more.

Science Program Director of the CSNK2A1 Foundation

Tue, 06 Dec 2022 16:30:00 GMT

CSNK2A1 Foundation is a patient-centered 501(c)(3) nonprofit organization focused on funding innovative, high-reward research with the potential to cure for Okur-Chung Neurodevelopmental Syndrome (“OCNDS”) and ensure affected individuals have the opportunities and support necessary for happy and full lives. Founded in 2018, we are building a patient-led research coalition in which OCNDS patients and families play an integral role in identifying relevant clinical questions and patient-centered health outcomes, highlighting the diversity of needs within the OCNDS patient community and addressing diagnosis-related research challenges.

We are seeking a Science Program Director (“Director”) who is a dynamic leader and will provide visionary leadership for all scientific efforts of the organization. This is an exciting time to join our foundation as you will further develop and cultivate our research program in which the outcomes will transform the lives of patients living with OCNDS, a rare disease discovered in 2016.

This unique opportunity comes when we are positioned to accelerate our mission. Last year, we received a grant from the Chan Zuckerberg Initiative’s (CZI) Rare as One in recognition of our efforts and to help us continue our work. We are using this grant to help fund our Science Program Director position. Initially, the Director will facilitate a thorough analysis of the research landscape pertinent to OCNDS.

Working with key stakeholders, the Director develops and implements the Foundation’s research initiatives and programs. The Director identifies and facilitates collaborative opportunities with academic institutions, pharma, biotech, patient advocacy organizations, and national and transnational government funding programs. The Director serves as the spokesperson for Foundation research activities and represents the Foundation’s interests at scientific meetings. The Director facilitates CSNK2A1/OCNDS research collaboration, encourages innovation, and ensures efficient use of Foundation resources to achieve the ultimate goal of treatments and a cure for OCNDS. The position reports to the Foundation President and Board of Directors.

Role & Responsibilities include but not limited to:

Facilitates a comprehensive research landscape analysis
Work with key stakeholders to develop the Foundation’s overall scientific strategy and research roadmap
Create strategic research goals, identify impact metrics and make recommendations that get us closer to translation research with treatment outcomes
Develop and manage the Foundation’s grant program, including writing requests for applications, soliciting proposals, responding to inquiries, managing review process, and tracking progress
Manage the Foundation’s grant application process, including collaborating with the research team to identify and apply for grant opportunities for the Foundation
Engage with a diverse group of external partners and collaborators in academia, industry, and other nonprofit organizations to sustain and advance the Foundation’s high-impact portfolio of research programs
Assist in the planning of scientific meetings, including Scientific Quarterly roundtables and our annual scientific workshop
Communicate with patient community regarding current research and opportunities to participate, including presenting at gatherings and updating website and/or social media with news and advancements
Serve as a scientific spokesperson for the Foundation, including representing the Foundation at scientific meetings and conferences

Key Qualifications:

Excellent verbal communication skills, including the ability to clearly articulate the purpose of meetings and other activities to potential participants
Team player able to work independently and collaboratively with the scientific team and other key stakeholders
Attention to detail with strong documentation, workflow management, and organizational skills
Creative in approach to problem-solving with the ability to take advantage of emerging opportunities
Proactive, with a strong work ethic and the ability to meet deadlines and understand priorities
Excellent written communication skills, particularly in drafting and editing a variety of materials with scientific content (letters, grant proposals, summary documents), as well as preparing presentations with scientific and programmatic content
Advanced proficiency with Microsoft Word, PowerPoint, Excel, Zoom, and Google Suite, in addition to online medical resource searching (e.g., Ovid, Medline, PubMed, etc.)
U.S.-based with ability to work and schedule meetings across multiple global time zones
Knowledge of the pharmaceutical industry, biotech, drug development, and FDA, and ability to relate scientific understanding to Foundation’s strategic needs. *In-depth knowledge is appreciated but not required
Demonstrated commitment to diversity, equity, and inclusion, particularly as it concerns underrepresented perspectives in neuroscience

Education & Experience:

PhD degree required, with at least two years of experience in post-doctoral work on scientific projects in an academic, industrial, non-profit, or government setting
Clinical and/or basic science research experience required

Additional Details:

Job Type: Part-time, 1 year contract renewable and hoping to grow to Full Time in the future

Work Location: Fully remote with occasional in-person travel to conferences and meetings. Our central office is in San Francisco, California.

Salary & Benefits:

Salary is competitive and will be commensurate with the qualifications and experience of the candidate
Flexible schedule

Schedule:

Day shift, part-time, Monday-Friday, up to 20 hours per week. The daily schedule can vary based on project priorities and organizational needs.
Occasional weekend and evening availability in a preplanned manner
The anticipated/desired start date is February 2023

To Apply:

We are a dynamic, growing organization that embraces critical thinking, problem-solving and innovative ideas. If you have relevant experience and qualifications, please submit a thoughtful cover letter describing your qualifications, a brief bio (200-word limit), and your interest in the position, together with your curriculum vitae to: admin@csnk2a1foundation.org

We will begin to review applications starting January 9, 2023 and applications will be accepted until the position is filled.

Applicants who best match the position's needs will be contacted.

CSNK2A1 Foundation is an equal opportunity employer and does not discriminate in hiring or terms and conditions of employment because of an individual's race, color, religion, gender, gender identity, national origin, citizenship, age, disability, sexual orientation, marital status, or any other protected category recognized by state, federal, or local laws.

December Monthly OCNDS Family Zoom Meeting

Thu, 01 Dec 2022 04:07:00 GMT

Join us on Sunday, December 18th, monthly OCNDS Family Zoom Meeting hosted by our Parent Advisory Board. We will discuss successes, challenges, and all things OCNDS. This meeting is only for primary caregivers, guardians, and those living with OCNDS.
We will be using AI technology for live-caption translation. Most languages are supported by this technology.
When: Sunday, December 18th, 08:00 AM Pacific Time (US and Canada)
Register in advance for this meeting here.
After registering, you will receive a confirmation email containing information about joining the meeting.
Best Practices for a Successful Call:
1. Use a computer or laptop if possible. Works well with Chrome, Firefox, Safari, or Edge. A cell phone will make it challenging to participate because you will only be able to see the translation screen or the zoom screen but not both screens at once. 2. Speak slowly and clearly. 3. State your primary language (pause a couple of seconds) 4. To introduce yourself: please say your name, country, the person with OCNDS’s name and age, 1 challenge, and 1 success (up to 1 minute) 5. Think about what you will say before speaking to help with ease of translation. 6. Make sure you are in a quiet place so the translation technology can hear you. Try to avoid having music in the background. 7. Avoid talking over other speakers. Stay on mute when not speaking. 8. Privacy, confidentiality, and safety are of the utmost importance during these family zoom calls. 9. The meeting will last for 90 minutes.

January Monthly OCNDS Family Zoom Meeting

Sat, 26 Nov 2022 23:51:00 GMT

Join us on Sunday, January 29th, monthly OCNDS Family Zoom Meeting hosted by our Parent Advisory Board. We will discuss successes, challenges, and all things OCNDS. This meeting is only for primary caregivers, guardians, and those living with OCNDS.
We will be using AI technology for live-caption translation. Most languages are supported by this technology.
When: Sunday, January 29th, 08:00 AM Pacific Time (US and Canada)
Register in advance for this meeting here.
After registering, you will receive a confirmation email containing information about joining the meeting.
Best Practices for a Successful Call:
1. Use a computer or laptop if possible. Works well with Chrome, Firefox, Safari, or Edge. A cell phone will make it challenging to participate because you will only be able to see the translation screen or the zoom screen but not both screens at once. 2. Speak slowly and clearly. 3. State your primary language (pause a couple of seconds) 4. To introduce yourself: please say your name, country, the person with OCNDS’s name and age, 1 challenge, and 1 success (up to 1 minute) 5. Think about what you will say before speaking to help with ease of translation. 6. Make sure you are in a quiet place so the translation technology can hear you. Try to avoid having music in the background. 7. Avoid talking over other speakers. Stay on mute when not speaking. 8. Privacy, confidentiality, and safety are of the utmost importance during these family zoom calls. 9. The meeting will last for 90 minutes.

Giving Tuesday 2022 - No Mountain To High

Sat, 26 Nov 2022 18:36:00 GMT

No Mountain Too High

For #GivingTuesday, we are highlighting the power of synergy between all stakeholders (families, researchers and clinicians) when tackling the obstacles they face in the search for treatment or a cure for a rare disease such as OCNDS.

Families face many obstacles in their rare disease journey: from diagnosis, care, treatment, and finding a cure. On average, it takes families 7 years to land on the right diagnosis. In 2016, when families received an OCNDS diagnosis, there was no foundation, no information, no website, and no community. In 2016, we were told that no one was studying we started a foundation & funded research ourselves.

Science is progressing at a rapid rate. Rare diseases once thought to be incurable or untreatable are being treated. After speaking with experts and academics, it was abundantly clear that there is a real possibility we can find a treatment/cure for OCNDS.

In 2018, CSNK2A1 launched. Our mission - to find a cure for Okur-Chung Neurodevelopmental Syndrome and ensure affected individuals have the opportunities and supports necessary for happy and full lives.

“The best method of overcoming obstacles is the team method.” At our conference in 2018, we had 1 researcher attend. In 2022, we have over 30 researchers across 7 institutions worldwide working on OCNDS. Our researchers are collaborating, sharing data, and publishing together. In addition, they are getting out of their labs and meeting families to learn firsthand about the daily struggles of those living with OCNDS.

There is no Mountain Too High for the OCNDS community: we will tackle every obstacle to fulfill our mission. On this #GivingTuesday, will you climb this mountain with us and help us find a treatment and a cure for OCNDS?

Double Your Support for OCNDS research

Time is of the essence. We need to find treatments for those living with OCNDS. From November 29th - December 31st, your gift will have DOUBLE the impact!

Our generous donors, Joan and Charlie Davis, are matching gifts up to $50,000. Act now to fund twice as many life-changing OCNDS research programs

Research Explained: Comparing Two Neurodevelopmental Disorders Linked to CK2: Okur-Chung Neurodevelopmental Syndrome and Poirier-Bienvenu Neurodevelopmental Syndrome—Two Sides of the Same Coin?

Mon, 21 Nov 2022 05:02:00 GMT

Link to Paper: Comparing Two Neurodevelopmental Disorders Linked to CK2: Okur-Chung Neurodevelopmental Syndrome and Poirier-Bienvenu Neurodevelopmental Syndrome-Two Sides of the Same Coin? (2022)

Authors : Demetra Ballardin, Jose M. Cruz-Gamero, Thierry Bienvenu and Heike Rebholz
Publication Review Explained By : Demetra Ballardin, Barbara Lecis Cocco, Jose Cruz-Gamero and Heike Rebholz
Publication Review Explained Summary :

OCNDS and POBINDS are two neurodevelopmental disorders that are caused by alterations in two genes that encode the blueprint of two different components of a protein called CK2. CK2 consists of two parts, a regulatory subunit that is termed CK2beta and the catalytic one that performs a biochemical reaction in our bodies, termed CK2alpha. OCNDS is caused by an alteration in the gene for CK2alpha, and POBINDS by alterations in the gene CK2beta. The two conditions are similar in many aspects, but also have differences, and in the literature thus far were never directly compared. With our review, we wanted to bring together patients’ data from both disorders in order to compare their symptoms and, via a literature survey, try to reason how known cellular function of CK2 could explain common and specific symptoms of both syndromes.

It is not surprising that we observed that OCNDS and POBINDS patients share many symptoms, including growth deficits, neurological and behavioral problems. However, the syndromes also present important differences: OCNDS patients achieve their developmental milestones (onset of speech and walking) much later and have a higher prevalence of intellectual disabilities and stereotyped movements than POBINDS patients. However, POBINDS patients suffer more often from epilepsy, and this includes a high prevalence of generalized tonic clonic seizures that are often difficult to manage pharmacologically. OCNDS patients do not suffer from generalized tonic clonic seizures, but other, milder forms of seizures. Moreover, OCNDS patients present sleep disturbances and gastrointestinal issues that were not reported by POBINDS patients.

We also tried to link certain symptoms such the loss of muscle tone and behavioral symptoms to known roles that CK2 plays in our brain, highlighting interesting processes that will be further studied to better understand OCNDS and POBINDS, and that could be the focus of therapeutic approaches. Studies using patients’ cells, mouse models and other models systems of the conditions will help to understand, on a molecular level, the similarities and the important differences between OCNDS and POBINDS.

2022 SCIENTIFIC & FAMILY CONFERENCE ADDITIONAL Q&A SESSION

Fri, 02 Sep 2022 08:49:00 GMT

Thank you to everyone who made our 2022 Scientific & Family Conference held in partnership with Simons Searchlight a HUGE success . We had such an overwhelming response that we couldn’t answer all the questions posed in the Q&A session. On September 25, 2022, at 9 am Eastern Time (U.S. and Canada), Dr. Wendy Chung, Dr. Volkan Okur, and Dr. Isabel Dominguez are joining us for an additional Question & Answer session. Register in advance for this webinar here.

After registering, you will receive a confirmation email containing information about joining the webinar. Live caption translations will be provided during the webinar. Most languages are supported.

If you missed the conference, you can watch the videos here .

See you on September 25th . If you are unable to attend, this session WILL be RECORDED.
#ocnds #csnk2a1 #hopeintoaction #timeisnow

NO MOUNTAIN TOO HIGH 2022 CSNK2A1 Foundation Virtual Run, Walk & Roll

Wed, 31 Aug 2022 08:56:00 GMT

JOIN US! Join our worldwide Okur-Chung Neurodevelopmental Syndrome (OCNDS) community on OCTOBER 15TH and OCTOBER 16TH for our NO MOUNTAIN TOO HIGH for OCNDS Run, Walk & Roll! This event will help raise awareness and fund research for OCNDS, an ultra-rare genetic disease that affects individuals worldwide.
DO I NEED TO RUN TO PARTICIPATE? Absolutely not! This is called a run, walk, or roll. Our goal is for you to safely come together with others to bring awareness to OCNDS. Invite some friends and family to join you to move into action TOGETHER for OCNDS. You can meet at the park, your street corner, the beach, or anywhere – get out of the house and move! You can RUN. You can WALK. You can ROLL whether on a bike, wheelchair, walker, scooter, roller skates, or rollerblades.
What is our theme for the year? Our foundation theme for the year is NO MOUNTAIN TOO HIGH . We intend to find a treatment and a cure for OCNDS. We will tackle any obstacles in our way and stop at nothing until we find one. Send us your photos of you with your friends and family shouting OCNDS from around the globe bringing awareness to OCNDS.
WHY RUN, WALK or ROLL? WHY DONATE? OCNDS is a lifelong condition that significantly impacts the lives of those affected and their families. There is no treatment or cure – YET! We are living in a time where genetic conditions thought to be incurable are now being treated. Together we have the chance to fund life-changing research and increase global awareness.
Proceeds benefit the CSNK2A1 Foundation, whose mission is to raise awareness and funds to support research that leads to actionable treatments which will make a meaningful difference in the lives of those affected by OCNDS.
STEPS TO PARTICIPATE:
Step 1. Register to run/walk/roll the virtual 5k or 1 mile , and invite your family and friends to join! Give your t-shirt size and mailing address.
Step 2. Invite your friends and family to join you and register.
Awards to be given for: *Loudest Family/Individual on Social Media, *Top Fundraiser, and *Most Liked Photo on Social Media
PRICING : $25 per adult registrant, $15 per child (2-18) registrant

Each registration fee includes (1) Move Into Action Event T-Shirt and (1) digital race bib. For example, if you register (2) adults and (2) kids, you will receive (4) t-shirts and (4) digital race bibs. Due to shipping challenges, we can only guarantee T-shirts for those who register BEFORE October 01, 2022.

Friendship Across Rare Diseases

Thu, 25 Aug 2022 04:04:00 GMT

In Baltimore, Maryland, August 4-7, 2022, four rare disease groups (CSNK2A1 Foundation, SETBP1, MED13L, HIVEP2) came together with Simons Searchlight to learn, connect, and participate in research. Even though our four rare diseases are different, our journeys are strikingly similar. There is great comfort in numbers. Bringing the four groups together gave us strength in numbers and shared experience. This is one OCNDS mom’s account of her family’s experience.
By Melanie Kretas
When I walked into the hotel where the 2022 OCNDS was being held, I felt a mixed bag of emotions. I felt incredibly blessed to be part of a community that felt like family. I was excited to meet new families and see many of the “old” families that I had met at the previous conference, as well as through regular phone discussion sessions and a very active Facebook group. It would be so nice to see them in person rather than on a Zoom screen! I was anxious to learn about the new research that had been done and what that would mean for our children and families. I also felt an overwhelming sense of hope for our children and the sense that everything would turn out okay.
As I walked through the front door of the hotel, I already felt comfortable, welcomed, and not alone. After settling into our hotel room, my family and I went to the floor where the conference activities would be held, where we would mingle, socialize and dine on some fabulous meals together.
I had surely thought the first family I would meet would be an OCNDS family like ours. Instead, to my surprise, it wasn’t. We were greeted by a 17-year-old bubbly, smiling, and spunky girl with a different rare disease called MED13L. After a long, wonderful introduction, I felt as if we had known this girl, Coral, and her mother for a long time. They both were so lovely, warm, and welcoming. My daughter Ava, who is 11 and just as spunky, immediately hit it off with Coral, and within a few hours, they were already planning to stay in touch after the conference, exchanging phone numbers and ROBLOX names. They laughed uncontrollably at each other’s antics and jokes and even danced to music they played on their phones. At night they begged us not to head upstairs to bed so they could spend more time together.
Ava and Coral stuck together throughout the long conference weekend. One night Coral was hanging out with some kids from her MED13L group. She invited Ava to join them, and they all ran around, chasing each other, their laughter and screeches filling the air. It was like they had known each other a long time, rather than a few days. There was an incredibly heartwarming moment when they came together for a group hug.
On the last night, there was a huge dance party. Ava and Coral were all over the dance floor, rallying people from every corner to join the dancing. They even danced with Dr. Okur and Dr. Chung- some very memorable, happy moments!
Ava and Coral were like two puzzle pieces that fit instantly together. Their puzzle was whole now that they had met each other -a connection that I hope will last long after the conference ends. While the girls were doing their thing, I had many opportunities to talk with Coral’s mother. We talked about things we typically wouldn’t discuss with parents of neurotypical kids: eating habits, toilet, menstrual issues, and especially how their quirky personalities impact their ability to make and keep friends. We shared our hope that they would always find a way to fit in with friends who can truly understand them.
Throughout the weekend, we continued to meet new families and reconnect with old friends. Each family shared a special place in my heart. I know that this rare community, this rare world I now live in, is far broader than I ever imagined. This weekend confirmed that and I am forever grateful. Near and far, I now have a beautiful and diverse rare family. As we walked through the doors of the hotel to head home, we each had so much more than we had when we had walked in a few days ago.

I am No Lance Armstrong – Cycling 500km Non-Stop to Raise Money and Awareness for OCNDS

Thu, 21 Jul 2022 04:08:00 GMT

By Kevin Pilgrim

My name is Kevin Pilgrim. I will be attempting to cycle 500km non-stop within 24 hours with my friend and neighbour Lorenzo. Although I like to keep active, I am definitely NOT an avid cyclist and no Lance Armstrong, I will be attempting this on an entry-level road bike with limited training. Seeing my son overcome many difficulties daily has inspired me to take on this challenge to raise money and awareness for OCNDS and the CSNK2A1 Foundation.

Hunter’s “rare” journey

This is our son Hunter. We are a family of four who live in Chelmsford, Essex. Hunter was diagnosed in August 2021 with Okur Chung Neurodevelopmental Syndrome (OCNDS). After many years of searching for reasons for Hunter’s colourful medical history, we finally had an answer, which brought about many more questions. When we were told by our geneticist that Hunter was one of around 50 individuals that had been identified worldwide, our hearts sank, as parents, we knew our work was not done in finding answers for Hunter’s difficulties; this was just the beginning. With the rareness of the syndrome, there are still so many unknowns.

The relief we experienced when we discovered the CSNK2A1 Foundation was overwhelming; to find a fantastic support network of other parents and individuals affected by OCNDS was beyond words. We finally had a community of others to identify with. To date, there are around 200 individuals diagnosed globally.

Hunter was in and out of hospital as a baby with recurrent urine infections and was diagnosed shortly after birth with the kidney condition MCDK. It was from there on that Hunter began to gather doctors and medical specialists for a variety of developmental delays and health-related issues.
Hunter is Autistic, struggles with communication, and experiences sensory difficulties. He is much smaller than his peers and has difficulty with fine and gross motor skills caused by hypermobility and hypotonia. He also wears glasses for astigmatism in both eyes. These are just some of the challenges Hunter faces due to his diagnosis, and the symptoms of OCNDS can vary widely for each individual.
Hunter is the most tenacious, adorable, inquisitive little boy who thrives in the face of his diagnosis. He continues to amaze us with his strength of character and resilience and is making huge strides daily. As parents, we couldn’t be prouder of him; the challenges he faces and overcomes due to OCNDS are astounding.

Link to fundraiser: https://www.justgiving.com/fundraising/500-24?fbclid=IwAR1Bu98nslJAkJGdizJEubm4wb97wVMZu-3Uyb5G3R_8RnSxLHZ-f7BlIWE

No Mountain Too High

Sat, 25 Jun 2022 04:21:00 GMT

© by Matt J Harline 2022
by Amber Reynolds
From the age of 11 months, Harper’s therapist told me to stop looking at all the things Harper could not do, and to focus on what she COULD DO. So I started a journal in my phone listing all the little things she could do: from waving Hi, to pointing to things she wants, to blowing kisses… we celebrated every “inchstone.” Today she is 10 years old and doing things I never would have thought, like skiing, to riding a bike, to swimming!
I heard about this artist, Matt Harline, out in California who is creating a book of children with rare syndromes and celebrating what kids COULD DO! I immediately thought of Harper and her HUGE accomplishment this past winter, of being able to ski in her own, ski in the special Olympics, and place 2nd in her age group. Wow, truly, no mountain is too high!!
This is painted by the artist Matt J. Harline in CA. He is creating a book of 20 kids with different rare syndromes of what they CAN DO. Prints of these paintings and their stories will be on display in the waiting rooms or hallways of children’s hospitals.

Excerpt from Matt Harline’s website https://huesoftheworld.com/Free-In-The-Mountains/
“Free In The Mountains”

Imagine sliding down a hill of snow, feeling the wind on your face, surrounded by snowy mountain tops and trees and the people that love you. At one time in her young life, Harper might never have expected to be able to do any of this. But nothing can hold Harper back. As a baby, it took Harper some time before she was able to do many of the things that other babies could do. But her doctor reminded mom and dad that they should focus on the things that Harper could do, and to encourage her, and build on those capabilities. Harper could blow kisses, play peek-a-boo, smile, and hug. At eleven months she started crawling. She was fitted with orthotic braces to help strengthen her ankles and legs. This helped her to be able to walk when she was around a year and a half old. She learned how to pull on her socks and dress herself. Because she is non-verbal, learning how to communicate with Harper was harder, but Harper, mom, and dad worked hard to learn how to communicate with each other. When she was five years old, Harper reached a turning point. She was diagnosed as one of only 200 in the world with Okur-Chung Neurodevelopmental Syndrome (OCNDS). In addition to OCNDS, she is also on the autism spectrum. She learned to communicate with the aid of an electronic device, along with sign language and gestures. About this same time, she was able to take the orthotic braces off and it seemed a whole new world opened up to her. She gained strength and improved her abilities. She is a very active girl that loves to dance, swim, and hike. Harper then began to learn to snow ski. She took adaptive ski lessons while tethered to her instructors. At the age of ten, she had the courage to ski all by herself. Her moment in the spotlight came in the Colorado Special Olympics ski team where she won second place for her age group. Harper has been in school since Pre-K, and will soon be in sixth grade. She doesn’t seem to be aware of her challenges. She is who she is, and she can actually do a lot. She does not hesitate to do the things that her peers do. She has learned a lot, and is teaching others about courage, persistence, and breaking barriers. And she has an infectious smile that brings cheer and happiness to everyone she meets. At ten years old, Harper still has a life full of adventure ahead of her. She will continue to ski, hike, dance, swim, and enjoy being in the mountains and among the tall trees.

Monthly OCNDS Family Zoom Call – July

Thu, 26 May 2022 04:26:00 GMT

Join us on Saturday, July 23rd for our monthly OCNDS Family Zoom Meeting hosted by our Parent Advisory Board . We will discuss successes, challenges, and all things OCNDS. This meeting is only for primary caregivers, guardians, and those living with OCNDS.
We will be using AI technology for live-caption translation. Most languages are supported by this technology.
When: Saturday, July 23, 08:00 AM Pacific Time (US and Canada)

After registering, you will receive a confirmation email containing information about joining the meeting.

Best Practices for a Successful Call:

Use a computer or laptop if possible. Works well with Chrome, Firefox, Safari or Edge. A cell phone will make it challenging to participate because you will only be able to see the translation screen or the zoom screen but not both screens at once.
Speak slowly and clearly.
State your primary language (pause a couple of seconds)
To introduce yourself: please say your name, country, the person with OCNDS’s name and age, 1 challenge, and 1 success (up to 1 minute)
Think about what you will say before speaking to help with ease of translation.
Make sure you are in a quiet place so the translation technology can hear you. Try to avoid having music in the background.
Avoid talking over other speakers. Stay on mute when not speaking.
Privacy, confidentiality, and safety are of the utmost importance during these family zoom calls.
The meeting will last for 90 minutes.

Monthly Family OCNDS Zoom Call – August

Thu, 26 May 2022 04:13:00 GMT

Join us on Sunday, August 28th for our monthly OCNDS Family Zoom Meeting hosted by our Parent Advisory Board . We will discuss successes, challenges, and all things OCNDS. This meeting is only for primary caregivers, guardians, and those living with OCNDS.
We will be using AI technology for live-caption translation. Most languages are supported by this technology.
When: Sunday, August 28, 08:00 AM Pacific Time (US and Canada)

After registering, you will receive a confirmation email containing information about joining the meeting.

Best Practices for a Successful Call:

Use a computer or laptop if possible. Works well with Chrome, Firefox, Safari or Edge. A cell phone will make it challenging to participate because you will only be able to see the translation screen or the zoom screen but not both screens at once.
Speak slowly and clearly.
State your primary language (pause a couple of seconds)
To introduce yourself: please say your name, country, the person with OCNDS’s name and age, 1 challenge, and 1 success (up to 1 minute)
Think about what you will say before speaking to help with ease of translation.
Make sure you are in a quiet place so the translation technology can hear you. Try to avoid having music in the background.
Avoid talking over other speakers. Stay on mute when not speaking.'
Privacy, confidentiality, and safety are of the utmost importance during these family zoom calls.
The meeting will last for 90 minutes.

Monthly OCNDS Family Zoom Call – June

Mon, 23 May 2022 04:31:00 GMT

Join us on Sunday, June 26th for our monthly OCNDS Family Zoom Meeting hosted by our Parent Advisory Board . We will discuss successes, challenges, and all things OCNDS. This meeting is only for primary caregivers, guardians, and those living with OCNDS.
We will be using AI technology for live-caption translation. Most languages are supported by this technology.
When: Sunday, June 26, 08:00 AM Pacific Time (US and Canada)

After registering, you will receive a confirmation email containing information about joining the meeting.
Best Practices for a Successful Call:

Use a computer or laptop if possible. Works well with Chrome, Firefox, Safari or Edge. A cell phone will make it challenging to participate because you will only be able to see the translation screen or the zoom screen but not both screens at once.
Speak slowly and clearly.
State your primary language (pause a couple of seconds)
To introduce yourself: please say your name, country, the person with OCNDS’s name and age, 1 challenge, and 1 success (up to 1 minute)
Think about what you will say before speaking to help with ease of translation.
Make sure you are in a quiet place so the translation technology can hear you. Try to avoid having music in the background.
Avoid talking over other speakers. Stay on mute when not speaking.
Privacy, confidentiality, and safety are of the utmost importance during these family zoom calls.
The meeting will last for 90 minutes.

Research Explained: Structural and Enzymological Evidence for an Altered Substrate Specificity in Okur-Chung Neurodevelopmental Syndrome Mutant CK2αLys198Arg (2022)

Wed, 04 May 2022 09:14:00 GMT

Link to Paper: https://doi.org/10.3389/fmolb.2022.831693

Authors: Werner C, Gast A, Lindenblatt D, Nickelsen A, Niefind K, Jose J, and Hochscherf J

Research Explained By: Dr. Jennifer Hochscherf

Research Explained Summary:

Patients with OCNDS have a change or mutation in the gene that contains the blueprint for the protein “protein kinase CK2alpha”. There are always two copies of this gene in the cell and the mutation only occurs in one of them. The blueprint determines the sequence in which different building blocks, so-called amino acids, are linked together in a long chain. However, this long chain should not be thought of as a straight thread, but rather it takes on a spatial three-dimensional structure that is determined by the sequence of the building blocks. This three-dimensional structure is crucial for the function of proteins.

The protein CK2alpha is an enzyme, a protein kinase to be more specific. Enzymes are tools of the cell to assist and catalyze chemical reactions. The CK2alpha reaction is the chemical modification of a second protein (the so-called “substrate protein”) by attachment of a phosphate group. This “phosphorylation” event is a metabolic signal with several possible consequences for the substrate protein: for example, it can be switched on or off, it can be marked for degradation or for transport to a specific location within the cell. In summary: correct and carefully out-balanced cellular phosphorylation reactions by CK2alpha and other protein kinases are crucial events to keep cells healthy and beneficial for the whole organism.

CK2alpha can phosphorylate different substrate proteins, and it recognizes them by a specific amino acid sequence on their surface. It is most important that this recognition works well and that the substrate proteins of CK2alpha are not mixed up with those of other protein kinases. To assist this job, CK2alpha has a binding partner called CK2beta. Together, they form a stable complex, the so-called CK2 holoenzyme, which in total consists of two CK2alpha and two CK2beta proteins and which is the predominant form in the cell.

In our research, funded by the CSNK2A1 foundation, we aimed to elucidate the consequences of the most common mutation reported for OCNDS patients, which leads to the exchange of the amino acid lysine at position 198 to arginine in CK2alpha (CK2α Lys198Arg ). We therefore examined several aspects of the CK2α Lys198Arg variant, such as the subunit interaction, stability, three-dimensional structure and activity and compared them with the non-mutated form, the “wild type”. We found that the mutation does not affect the interaction with CK2beta, and that the thermal stability of the protein is even slightly increased.

We applied a technique called X-ray crystallography that enables to determine and visualize the three-dimensional structure of a protein with near to atomic resolution to investigate the molecular details of the CK2α Lys198Arg structure. The mutated position 198 is located in the substrate recognition site of CK2alpha that exposes a positively charged surface area and preferentially binds negatively charged residues of its substrate proteins. In a CK2alpha X-ray structure solved in the absence of a substrate protein, the positively charged region is often occupied by two negatively charged sulfate ions. These sulfate ions thus mark the binding sites for negatively charged amino acid building blocks in the substrate protein that belong to the sequence recognized by CK2alpha. The most striking feature of the CK2α Lys198Arg structure is that the position of one of the characteristic sulfate ions is shifted compared to the wild-type. Although this shift of the anion binding site seems subtle at first sight, this structural finding supports the conclusion drawn by Caefer et al. (2022) that the CK2alpha mutant Lys198Arg does not primarily lead to a loss of function, but to a change in substrate specificity.

To detect possible selectivity changes due to the Lys198Arg mutation, comprehensive enzymatic activity assays have been performed in Prof. Joachim Jose’s research group at the University of Münster, Germany. The outcome of these assays support the conclusion by Caefer et al. (2022) that the substrate spectra of CK2α Lys198Arg and wild-type CK2alpha differ from each other, meaning that CK2α Lys198Arg has some substrate proteins not phosphorylated by wild-type CK2alpha and vice versa. In particular proteins of the nervous system might be differentially phosphorylated by the variant CK2α Lys198Arg and the wild-type form. Understanding the molecular basis of OCDNS is important to identify the direction in which research should continue and ultimately to develop strategies for the development of therapies.

Monthly OCNDS Family Zoom Call – May

Sat, 23 Apr 2022 02:42:00 GMT

Join us on Sunday, May 22, 2022 , for our monthly OCNDS Family Zoom Meeting. We will discuss successes, challenges, and all things OCNDS. This meeting is only for primary caregivers, guardians, and those living with OCNDS. All languages welcome.
We will be using AI technology for live-caption translation.
When: May 22, 2022, 08:00 AM Pacific Time (US and Canada)

After registering, you will receive a confirmation email containing information about joining the meeting.
Best Practices for a Successful Call:

Use a computer or laptop if possible. Works well with Chrome, Firefox, Safari or Edge. A cell phone will make it challenging to participate because you will only be able to see the translation screen or the zoom screen but not both screens at once.
Speak slowly and clearly.
State your primary language (pause a couple of seconds)
To introduce yourself: please say your name, country, person with OCNDS’s name and age, 1 challenge and 1 success (up to 1 minute)
Think about what you will say before speaking to help with ease of translation.
Make sure you are in a quiet place so the translation technology can hear you. Try to avoid having music in the background.
Avoid talking over other speakers. Stay on mute when not speaking.
Privacy, confidentiality, and safety are of the utmost importance during these family zoom calls.
The meeting will last for 90 minutes.

Parent Reflection on OCNDS Awareness Day 2022

Thu, 31 Mar 2022 02:47:00 GMT

By: Kristen Didzoleit

“There is no mountain too high when you have a community around you who cares.“

International OCNDS Awareness Day
For most people, April 5th isn’t a particularly important day. For my family, and approximately 200 others worldwide, it’s a day of great importance. On April 5, 2016, the first paper was published on a new, extremely rare disease called Okur-Chung Neurodevelopmental Syndrome (OCNDS). There were 5 children included in the study, the only individuals in the entire world with this diagnosis at the time. International OCNDS Awareness Day was established to honor the significance of that day for our community as well as to spread awareness of this genetic disease.
When your child is diagnosed with an ultra-rare genetic disorder, it’s hard to orientate yourself to the new life and world you’ve been placed in through no choice of your own. It was already painful watching our child develop so slowly in comparison to others in his baby group and not understanding why. Listening to our genetic counselor say that our son was the only person in Austria with OCNDS, and therefore no doctor would know his disease nor be interested in studying it, was like salt in a wound. She advised us to start various forms of therapy and sent us on our way. The walk home is still a blur and the days that followed were full of tears. It was hard to imagine getting up and living life as we knew it again, let alone figuring out how to best care for our rare disease child.
It was with these daunting feelings that we started searching for other families in the aftermath of our diagnosis. We couldn’t believe our luck when we found the CSNK2A1 Foundation. This organization was founded by Jennifer Sills; the mother of the 6th child diagnosed with OCNDS. It was established in 2018 and has grown to around 200 families worldwide. I will never forget our intake call with Jennifer. It was such a blessing to speak with someone who knew exactly what we were going through. She added us to the private Facebook group where we could connect with other families with the same diagnosis. These connections became, and continue to be, our lifeline, constantly reminding us that we are not alone.
When we started our diagnosis journey, we felt terrified but now we have a second family through the CSNK2A1 Foundation. We also came to realize that we can make a difference. Our Foundation is driving the research needed to help treat or even cure those diagnosed with OCNDS. Along the way, we are also determined to spread awareness for OCNDS. Through awareness comes acceptance, and we will never tire until we know we have made this world a better place for those living with OCNDS. My son works tirelessly to achieve the smallest of milestones that most parents wouldn’t even give a second thought. While he fights to develop the most basic of skills, I will fight to make sure his work never goes to waste.
Join me on April 5th to spread awareness for OCNDS. Like the CSNK2A1 Foundation Facebook , Instagram and LinkedIn pages and while you are at it, share this post! There is no mountain too high when you have a community around you who cares. Your support brings real change to families like mine.

Q1 | March 2022 | IN THE LOOP

Wed, 30 Mar 2022 04:36:00 GMT

Join Us for International OCNDS Awareness Day

April 5th is International OCNDS Awareness Day. Why is April 5th OCNDS Awareness Day? On April 5, 2016, lives were changed forever. On this day 6 years ago, the first paper was published describing a brand new syndrome called Okur-Chung Neurodevelopmental Syndrome, also known as OCNDS. Initially, there were 5 children identified in the paper with OCNDS. Soon these 5 children would be joined by others around the world. This year's theme is " No Mountain Too High ". Tune in on April 5th to learn more.
How can you bring awareness to OCNDS on April 5th? Wear GREEN or BLUE to show your support for OCNDS. Take a picture of yourself wearing a Foundation shirt or wearing Foundation colors and post it to social media using hashtags #OCNDSAwarenessDay #csnk2a1 and tagging the Foundation at @csnk2a1 Share our posts on social media

For the first time in history, Niagara Falls is lighting up for OCNDS on April 5th to recognize International OCNDS Awareness Day . The Falls will be illuminated Green & Blue at 10:00 p.m. for a fifteen (15) minute duration. Here is a live cam link to watch this magical event .

In addition, for the first time ever, The High Level Bridge in Edmonton, Canada will illuminate in recognition of OCNDS on April 25th . The High Level Bridge has 60,000 LED bulbs that will light up in green and blue to bring Awareness to OCNDS.

Drive for Diagnosis Golf Classic

We are excited that our golf tournament is back in full force this year at the newly restored championship golf course at El Caballero Country Club in Tarzana, California! It is our largest fundraiser of the year ! On Monday, April 11, 2022 , we will Drive for Diagnosis to support all CSNK2A1 Foundation research programs, including the CSNK2A1 Foundation Research Program at TGen, the Translational Genomics Research Institute in Arizona!
By partnering with TGen, we are helping children who do not have access to genetic testing. Families are not charged for care and genetic testing at TGen. Access to healthcare and social determinants are enormous hurdles to receiving a diagnosis. Whether it is access to health insurance to pay for testing or getting time off work to go to doctor appointments or traveling long distances for care; there are many obstacles impeding families’ ability to receive a diagnosis. For undiagnosed families and children, TGen is the last hope in their diagnostic odyssey which spans many years and countless visits to doctors and specialists.
Thank you to our leading sponsors for your support: The Sills Family, Denise & J. Michael Grossman of Pinnacle Contracting Corporation, Michael A. Grossman, Anita Mann - Allen and Anita Kohl Charitable Foundation, Joan & Charlie Davis, RVW Wealth, and Michael Dahme of Dahme HVAC.

Don't miss out on the fun! April 11th is our Golf Classic - our largest fundraiser of the year! For those who can't join, you can still participate in our Drone Golf Ball Drop to support OCNDS research!
Here's how it works: Purchase your golf ball(s) for $30 each. Golf balls can be purchased online until 4.08.22 or until they sell out. A drone will drop numbered golf balls onto a green. The three balls closest to the pin/in the hole will win cash prizes.
You do not need to be present to win! Buy your golf ball(s) today here .

Announcing Applications are Open for Our Parent Advisory Board!

We are thrilled to announce that we are selecting our 2022-2024 Parent Advisory Board. Our inaugural board was a tremendous success! We are looking for caregivers and parents who want to be more involved. This is an exciting opportunity for caregivers and parents to make a difference in the lives of those affected by OCNDS. Our Parent Advisory Board advises our Board of Directors, brainstorms ideas, and shares insights from the parent perspective related to OCNDS.
Commitment: *2-year commitment, *PAB Meeting Virtual Calls - 2 hour per month , *Host or Co-host Family Zoom Calls 90 minutes 1x per quarter, *5 hours a month minimum for PAB projects, and *three 2-hour virtual leadership trainings. Applications are due May 1, 2022 . APPLY to our Parent Advisory Board Today!

Rare Disease Day 2022 Recap

Everyone has a friend, colleague, or loved one affected by a Rare Disease. On Rare Disease Day we asked people to be a beacon of light for someone living with a rare disease by reaching out to a friend, family member, neighbor, or coworker with a rare disease, so they feel seen and heard. Watch our 2022 Rare Disease OCNDS Video .
As the sun set on February 28, 2022 at our headquarters in San Francisco, we remembered February 28, 2018, our organization's 1st rare disease day and the day that our Foundation website first launched - The day our lights went on for OCNDS! We are so grateful to every OCNDS family, donor, supporter, and volunteer helping us accelerate OCNDS research! We have big plans for these next 3 years - The best way to predict the future is to create it. Our lights are always on !

Giving Tuesday Final Numbers

UPDATED Total! On November 30, 2021, the world was united by Giving Tuesday, a global day of giving. We launched our No Family Walks Alone Campaign . We raised a record-breaking total of $168,749 from Facebook, Instagram, online donations, and mail-in donations, plus the matching donation. Thank you to all of our donors and supporters for making this a huge success! A heartfelt thank you to Joan & Charlie Davis for matching $50,000 of donations made to the Foundation. Recently, Facebook notified us that they matched $1046 of donations made to CSNK2A1 Foundation for Giving Tuesday.

COVID Survey Results

Thank you to our OCNDS families who participated in our COVID-19 Survey prepared by our Parent Advisory Board. COVID-19 continues to be part of our daily life. We want to provide our community with up-to-date information on how COVID-19 is affecting those with OCNDS. 52 families participated in the survey. We will release the full results soon, but in the meantime many families want to know how those with OCNDS were affected by the COVID-19 virus and what were the short and long-term side effects. 17/52 (32.7%) have been infected by the virus. 35/52 (67.3%) have not been infected. Of the infected, the majority experienced missed school/disruption of routine in the short term and 5 experienced academic/social regression in the long term.

Registration Opening Soon for our Summer 2022 Family Conference

We are excited for our upcoming in-person family conference in Baltimore, Maryland, August 4-7, 2022. Registration will open shortly. If you are unable to attend in-person, there will also be a virtual option. In partnership with Simons Searchlight, we will have a joint family and research conference with 3 other patient organizations. We believe that collaboration across similar conditions and groups will accelerate research that will benefit us all. For the first time, Simons Searchlight is offering grants to researchers to conduct studies at our conference. This is an amazing opportunity for our community to be represented in research. More information to follow.

Number of New OCNDS Families in Q1

In the first quarter of 2022, we found 9 new families spanning the globe: Portugal, USA, UK, Norway, France, and Denmark . Thank you to our volunteer interpreters who helped us connect with some of the new families this quarter.

EDUCATION

State Insurance Guide

Our friends at the Angelman Syndrome Foundation put together a comprehensive guide to help families navigate the insurance process in their state. Each state has various options of Medicaid and Waivers, which can seem overwhelming and difficult. Our hope is that you find this guide useful and helpful as you try to advocate for your individual with OCNDS. Please note that Waiver wait times, websites, personnel, and funding can change regularly depending on the state and the agency that oversees Medicaid and various programs. Please reach out to us at info@csnk2a1foundation.org at any point if you need additional help with insurance in your state. Thank you to the Angelman Syndrome Foundation for putting this guide together and sharing it with rare disease communities!

Equine Therapy Webinar

As part of our Family Education Webinar Series , on Saturday, December 11th, we spoke with Lulu Bogolin, Executive Director of Equine-Assisted Therapy, Inc., about the benefits of Equine Therapy.
She covered: *What is equine therapy *The benefits of equine therapy *What to look for in an equine center *What is the vestibular system Thank you, Lulu, for donating your time! Watch this video to learn more about Equine therapy .

AWARENESS

Awareness is the key to acceptance.

We are grateful for all the different ways our community brings awareness to OCNDS.

OCNDS Family Highlight – David Cole

Meet OCNDS parent David Cole. He lives in Alabama and his daughter Adelynn has OCNDS. He is always looking for ways he can make a difference and bring awareness to her condition. In March, he sold 75 boxes of Krispy Kreme donuts outside his local grocer. Thank you to @krispykreme for having this fundraising program in which 50% of your donut sales go to the nonprofit of your choice. We love seeing our OCNDS parents bringing awareness to OCNDS and fundraising at the same time. Way to go, David!

Thank you to those who created Facebook fundraisers to benefit OCNDS research in Q1.

Every dollar counts. Thank you to: Sonia Russi, Katie Keiser, Dhafer Jaziri, Federica Preziosi, and Carissa Cee.

Do you live near Denver, Colorado ? Join the Reynolds family on April 2 from 4-8pm for an International OCNDS Awareness Day celebration at Brewability in Englewood, Colorado, which will include Live Music & Giveaways! 15% of the sales benefit CSNK2A1 Foundation research programs. Brewability Lab hires people with developmental disabilities and is accessible for employees and customers.

Global Genes 2022 RARE Compassion Program

Our President Jennifer Sills and her family were selected to participate in the Global Genes 2022 Rare Compassion Program . The RARE Compassion Program has provided a unique opportunity for medical students to develop relationships with patients and their families experiencing a rare diagnosis, with the goal of developing compassion and awareness for the challenges that individuals diagnosed with a rare disease are faced with every day. This program is committed to addressing inequities and disparities within the medical profession by pairing medical students and patients from underrepresented and/or minoritized communities with the goals of fostering meaningful patient-doctor relationships, improving cultural congruence, and nurturing future advocates in rare disease.
Each year, the program connects medical students with individuals and families with rare diseases to help foster meaningful doctor-patient relationships, inspire careers in rare disease care and research, and ultimately, through patient-centric listening and interactions, build the next generation of future medical professionals as key advocates for their patients.
Jennifer and her family are grateful for this opportunity and are excited to ensure that the next generation of medical professionals are both compassionate and rare aware .

#MilestoneMondays

Each Monday join us on social media to celebrate #MilestoneMondays . We highlight an individual living with OCNDS and celebrate a milestone that they have achieved. Those living with OCNDS have many daily challenges. Some challenges are as basic as swallowing, toileting, dressing, putting on a seatbelt, and making friends. Individuals with OCNDS have to work harder than the average person to reach the smallest of milestones.

We celebrate Adelynn! Adelynn is 4 and has OCNDS. Her mom shared: "Always trust your Mother instinct! We were told by one of our many Doctors that Adelynn needed a wheelchair and I refused to accept it because all our other Doctors and therapists knew she was going to walk and never stopped rooting for us. I am super proud of my baby. She has worked so hard for this and we knew on her time like everything else she does she would get confident enough to walk! Milestone accomplishment so emotional and HAPPY!" Way to go, Adelynn! Thank you Adelynn for reminding us to never give up and never stop believing!

RESEARCH UPDATES & OPPORTUNITIES

Meet Dr. Tika Benveniste, Newest Addition to our Scientific Advisory Board

We are thrilled to announce that Dr. Tika Benveniste has joined our Scientific Advisory Board. Dr. Benveniste is Senior Vice Dean for Research, UAB Heersink School of Medicine. She will be a vital part of our SAB. We are excited to work with her. Read more about Dr. Benveniste here .

Utilization of AI Technology to find a treatment for OCNDS - mediKanren

Thank you to Matt Might, Ph.D. and his team at the University of Alabama at Birmingham’s Hugh Kaul Precision Medicine Institute (UAB-HKPMI) for using mediKanren to scour millions of publications to identify compounds and small molecules that may be used as a potential treatment for OCNDS. There are more than 50 million total peer-reviewed articles and over 1.5 million publications per year. It is impossible for researchers to keep track of everything discovered in these publications. UAB-HKPMI developed a software reasoning tool called mediKanren. Since the tool’s inception, mediKanren has been successful in finding novel FDA-approved therapeutic recommendations for disorders ranging from undiagnosed and purely symptomatic disease to genetically diagnosed metabolic disorders. We are excited to review these findings at our Scientific Roundtable.

Deletions in CSNK2A1

Dr. Okur and Dr. Chung are conducting a study on gene deletion (partial or whole gene) variants in OCNDS. If your child was found to have a deletion in the CSNK2A1 gene and if you are interested, you may contact Dr. Okur at vokur7@gmail.com to learn more about study details. If you are unsure if your child has a deletion on CSNK2A1 gene, please contact us at jennifer@csnk2a1foundation.org and we will help you read your genetic report.

Young Scientists Taking An Interest in OCNDS at Vanderbilt University

We are thrilled that one student chose to study our syndrome for the rest of the semester and is writing a disease conceptual model for OCNDS. We love seeing young scientists take an interest in our ultra-rare syndrome. Thank you to Professor Terry Jo V. Bichell, Ph.D., MPH.*, for this fantastic opportunity. *Dr. Bichell is also the Founder/Director of COMBINEDBrain .

Will You Be A Game-Changing OCNDS Family?

Dr. Wendy Chung and Dr. Volkan Okur first identified Okur-Chung Neurodevelopmental Syndrome (OCNDS) in 2016. Most physicians and providers have never heard of OCNDS. When someone is diagnosed with OCNDS, there are no clinical care guidelines for physicians.

What are clinical care guidelines?
Clinical practice guidelines are recommendations on how to diagnose and treat a medical condition such as OCNDS . Clinical care guidelines are meant to help ensure that patients receive appropriate treatment and care. Currently, care varies wildly from patient to patient without these guidelines.
WE CAN CHANGE THIS!
Steps to Become a Game-Changing Family

Sign up for Simons Searchlight www.simonssearchlight.org
Upload the genetic report of loved one with OCNDS to Simons Searchlight
If you don’t have the genetic report, no problem. You can sign a consent form and Simons Searchlight will get the report for you.
Schedule your medical history phone interview
Complete your medical history phone interview

*Languages supported: English, Spanish, French & Dutch (other languages coming soon)

The Simons Searchlight Voice of the Community

Have you read the newest OCNDS results from a special survey called The Simons Searchlight Voice of the Community? The results include specific data and information about our community, including the top 3 symptoms that have the most impact on those with OCNDS: 1) Intellectual disability/delay 2) limited/absent speech and 3) sleep. Thank you to everyone who contributed their unique information and insight! View the report here .

Simons Searchlight Registry Infographic

Every quarter, Simons Searchlight publishes a quarterly registry report with updated data on Simons Searchlight CSNK2A1 participants. Click here to read the report . If you want to be included in future reports, join Simons Searchlight today ! Data presented in this report is primarily gathered from the medical history phone call.

Q1 Scientific Roundtable

CSNK2A1 Foundation hosts a quarterly Scientific Roundtable to bring together diverse researchers, clinicians, and innovators from around the globe to exchange ideas and accelerate the path towards treatment for OCNDS. These roundtables play a vital role in setting our OCNDS research agenda.
On March 31st, our Scientific Advisory Board and 2 board members hosted 6 institutions and 12 foundation-funded researchers to hear research updates and to discuss next steps. We were thrilled to hear how our researchers are successfully sharing data and collaborating together. We are looking forward to our next roundtable in June.
For information or inquiries about our Quarterly Scientific Roundtable, please email research@csnk2a1foundation.org .

FAMILIES CONNECTING

Our Parent Advisory board hosts monthly Family Zoom calls. Families across the globe join. We use Wordly to provide live caption translation so ALL families can participate regardless of their native language. Everyone in our community benefits from more perspectives, more allies, and more hope! On these calls, we share the successes and challenges of OCNDS. We discuss everything OCNDS including toileting, anxiety, behavior, toileting, sleeping, transitioning into adulthood and many other issues our loved ones face when living with OCNDS.
These calls serve as a lifeline for many families struggling with basic daily activities. At the end of each call, we ask every participant to say one word that describes how they are feeling at the end of the call. We frequently hear: "Connected" , "Grateful" , "Not alone" , "Understood" , "Excited" , "Togetherness", "Hopeful" , and "Supported" . Join us for our next call. Our next Family Zoom call is on April 9, 2022. Register for our April Family Zoom call now !

Are you a dad to a person living with OCNDS or are you a dad with OCNDS? Brian Reynolds, OCNDS parent to Harper, is hosting a Zoom call for all Dads on Sunday, April 24th at 8am Pacific Time. Register for the Zoom call for Dads now!
We also have families connect via region or country through WhatsApp or Facebook Messenger to talk more specifically about issues that are specific to their geographic area. If you haven’t joined our smaller WhatsApp or Messenger groups, please contact Jennifer at jennifer@csnk2a1foundation.org and we can direct you to the appropriate group.

January Australia OCNDS Family Zoom Call

February OCNDS Family Zoom Call

January OCNDS Family Zoom Call

March OCNDS Family Zoom Call

MARK YOUR CALENDAR

International OCNDS Awareness Day - April 5th Drive for Diagnosis Golf Classic - April 11th Drone Golf Ball Drop Results - April 12th Niagara Falls Lighting Up for OCNDS - April 5th, 10pm EST Dads Only Zoom call - April 24th The High Level Bridge Lighting Up for OCNDS, Edmonton, Canada - April 25th Monthly OCNDS Family Zoom Call - April 9th - May 21st - June 26th Q2 Quarterly Scientific Roundtable - June 2 Scientific & Family Conference - August 4-7 (Baltimore, Maryland)

HOW TO GET INVOLVED

As you are navigating this diagnosis, there are steps you can take to get informed, connected, and make an impact today!

Have special skills or talents and would like to donate your time? There are many volunteer opportunities available at the Foundation. Email us at volunteer@csnk2a1foundation.org to get involved.

Friends, family, and providers can join our closed Facebook group to share ideas and learn more about OCNDS. Join our Facebook group now .

Monthly OCNDS Family Zoom Call – April

Mon, 28 Mar 2022 04:39:00 GMT

Join us Saturday, April 9, 2022 , for our monthly OCNDS Family Zoom Meeting. We will discuss successes, challenges, and all things OCNDS. This meeting is only for primary caregivers, guardians, and those living with OCNDS. All languages welcome.
We will be using AI technology for live-caption translation.
When: Apr 9, 2022 08:00 AM Pacific Time (US and Canada)
Register in advance for this meeting here .
After registering, you will receive a confirmation email containing information about joining the meeting.
Best Practices for a Successful Call:

Use a computer or laptop if possible. Works well with Chrome, Firefox, Safari or Edge. A cell phone will make it challenging to participate because you will only be able to see the translation screen or the zoom screen but not both screens at once.
Speak slowly and clearly.
State your primary language (pause a couple of seconds)
To introduce yourself: please say your name, country, person with OCNDS’s name and age, 1 challenge and 1 success (up to 1 minute)
Think about what you will say before speaking to help with ease of translation.
Make sure you are in a quiet place so the translation technology can hear you. Try to avoid having music in the background.
Avoid talking over other speakers. Stay on mute when not speaking.
Privacy, confidentiality, and safety are of the utmost importance during these family zoom calls.
The meeting will last for 90 minutes.

April 5th is International OCNDS Awareness Day

Sat, 05 Mar 2022 06:52:00 GMT

Save the Date – April 5th is International OCNDS Awareness Day

Why is April 5th OCNDS Awareness Day? On April 5, 2016, lives were changed forever. On this day, 6 years ago, the first paper was published describing a brand new syndrome called Okur-Chung Neurodevelopmental Syndrome, also known as OCNDS. Initially, there were 5 children identified in the paper with OCNDS. Soon these 5 children would be joined by others around the world.

This year’s theme is “No Mountain Too High.” Tune in on April 5th to learn more.

Calling All Dads! Join us on April 24th.

Sat, 05 Mar 2022 06:49:00 GMT

Are you a dad to a person living with OCNDS or are you a dad with OCNDS? SAVE THE DATE! CALLING ALL DADS to join Brian Reynolds, OCNDS dad to Harper, age 10, where DADS ONLY will discuss all things OCNDS.
All languages welcome. AI technology provided for live-caption translation!
Mark your calendars for Sunday, April 24, 2022 at 8am Pacific Time (US and Canada).

After registering, you will receive a confirmation email containing information about joining the meeting.

Monthly OCNDS Family Zoom Call – March

Tue, 01 Mar 2022 06:46:00 GMT

Join us in March for our monthly OCNDS Family Zoom Meeting . We will discuss successes, challenges, and all things OCNDS. This meeting is only for primary caregivers, guardians, and those living with OCNDS. All languages welcome. We will be using AI technology for live-caption translation.

When : Mar 27, 2022 08:00 AM Pacific Time (US and Canada)
Register in advance for this meeting here.

After registering, you will receive a confirmation email containing information about joining the meeting.
Best Practices for a Successful Call:

Use a computer or laptop if possible. Works well with Chrome, Firefox, Safari or Edge. A cell phone will make it challenging to participate because you will only be able to see the translation screen or the zoom screen but not both screens at once.
Speak slowly and clearly.
State your primary language (pause a couple of seconds)
To introduce yourself: please say your name, country, person with OCNDS’s name and age, 1 challenge and 1 success (up to 1 minute)
Think about what you will say before speaking to help with ease of translation.
Make sure you are in a quiet place so the translation technology can hear you. Try to avoid having music in the background.
Avoid talking over other speakers. Stay on mute when not speaking.
Privacy, confidentiality, and safety are of the utmost importance during these family Zoom calls.
The meeting will last for 90 minutes.

In honor of the countless families all too aware that today is Rare Disease Day

Mon, 28 Feb 2022 07:00:00 GMT

by Keri Sullivan Ninness
In 2016 we became members of a club we never would have chosen- our 3.5-year-old boy was diagnosed with a new syndrome, a disease so rare only 5 others in the world had been diagnosed. We left that appointment with almost no information on how to go forward.
7 years later, with handfuls of new children being diagnosed with Okur-Chung Neurodevelopmental Syndrome OCNDS each week, we know so much more.
We know early intervention is critical. It is crucial. Vital.
We know access to expert specialists and strong relationships with pediatricians are critical. Vital. Crucial.
We know our schools and support services are critical, vital, crucial.
We know support from our families and community are critical, vital and crucial.
We also know that our son, his OCNDS buddies, and our other rare disease friends are of immeasurable worth, of significant value to the world. They are funny, witty, resilient, strong, capable, kind, smart kids and we are the very luckiest to walk alongside them.

I am not immune to wishing some of Thomas’s (and admittedly our family’s) suffering away. But as author and activist Katherine Wolf (Hope Heals) says, “the hard story and the good story can be the same story.” We are eternally grateful to get a front row seat to Thomas’s beautiful, hard, good story.

Canadian Family Zoom Meet-up on Monday, March 7th

Mon, 28 Feb 2022 06:58:00 GMT

Join Canadian Parent Advisory Board members, Elisabeth Mellinger and Michelle Proctor-Simms , for a Canadian Family Zoom Meet-up on Monday, March 7 at 5pm ET to talk and share stories about raising a child with a rare syndrome in Canada.

Contact info@csnk2a1foundation.org for Zoom meeting ID and password.

Rare Disease Day Reflection 2022

Sun, 27 Feb 2022 07:03:00 GMT

by Aurelie Froment

"This diagnosis changes nothing, and it changes everything.”

It’s now been 2 years that we went from being a ‘diagnostic-less’ family to the family of rare diseases. After 5 years of doctor hopping, and thanks to wonderful people met along the way (and a lot of tenacity), we finally were able to put a name on our son’s troubles.
This diagnosis changes nothing, and it changes everything. Today in 2022, while the future is still full of unknowns, we walk towards it much more serene and strong, and each day with Hélio is an encouragement. With our experience, with Hélio being so wonderful, strong and brave, we want to contribute to changing people’s eyes on rare diseases.
Living next to Hélio and seeing develop day after day is a blessing. He makes us better, more tenacious, more open-minded and more kind. Each day, we try with Hélio to make a strength out of his difference.

We are grateful to our son for making us live such intense moments, full of love.

We Took it One Step at a Time – a Rare Disease Day Reflection

Sun, 27 Feb 2022 06:56:00 GMT

by Erica Trevino
Today is an amazing day to spread Awareness for Rare Disease Day!!
It has been a long journey for Jordan. It took 5 years to finally find a diagnosis. We had lost hope in find answers until his genetic doctor told us two amazing doctors - Dr. Okur and Dr. Chung - had answers. We were so happy and blessed to finally have answers for our son, Jordan.
We didn't know what OCNDS was. We looked online for answers and found nothing but a Facebook group. We decided to join the Facebook support group...and they have been nothing but a fully supportive, amazing community that understands us every step of the way!!

After many obstacles, Jordan always has a smile on his face!! When we started this journey, we had no idea how hard it was going to be to help him, understand him, and what the future held; we just took it one step of a time...And now Jordan is doing amazing. Jordan is 8 now. We have learned so much from him, in understanding him. Jordan has been a wonderful blessing. We couldn't be happier Parents! Jordan loves to dance. He loves music and having fun with family!! He adores his siblings!!

Monthly OCNDS Family Zoom Call – February

Wed, 26 Jan 2022 07:07:00 GMT

Join us for our monthly OCNDS Family Zoom Meeting . We will discuss successes, challenges, and all things OCNDS. This meeting is only for primary caregivers, guardians, and those living with OCNDS.

All languages welcome. We will be using AI technology for live-caption translation.
When : February 26, 2022 08:00 AM Pacific Time (US and Canada)
Register in advance for this meeting here.

After registering, you will receive a confirmation email containing information about joining the meeting.

Monthly OCNDS Family Zoom Call – January

Tue, 18 Jan 2022 07:09:00 GMT

Join us for the first OCNDS Family Zoom Meeting of 2022 . We will discuss successes, challenges, and our hopes for 2022. This meeting is only for primary caregivers, guardians, and those living with OCNDS. All languages welcome. We will be using AI technology for live-caption translation.
When : Jan 23, 2022 08:00 AM Pacific Time (US and Canada)

After registering, you will receive a confirmation email containing information about joining the meeting.

2021 Year in Review

Thu, 30 Dec 2021 04:45:00 GMT

Reflecting on 2021 - The So-Called Year of Recovery
2021 has been called the year of recovery and renewal as the world tried to move past the pandemic. We began the year thinking we had a handle on COVID, but experienced continued lockdowns, the challenge of mask-wearing, social distancing, and canceled plans. 83% of OCNDS families surveyed reported their children were negatively impacted by COVID closures. OCNDS families lacked essential and medically necessary services for their children, which was particularly detrimental as structure and consistency are lifelines for those living with OCNDS. Many children with OCNDS also have autism, so the lack of social interaction was particularly challenging. Many families reported a change in demeanor or mental health decline, reporting that their children were increasingly sad, frustrated, angry, and had increased anxiety. Many of those with OCNDS couldn’t access distance learning due to their disability and, therefore, went without school. There was no respite care for families. Individuals with OCNDS were also unable to get necessary surgeries. Families reported regression, weight gain, and sleep disturbances.
We begin every year with a theme. 2021 was No Family Walks Alone . Our families were more alone than ever during this pandemic. Our quarterly family meetings hosted by our Parent Advisory Board (“PAB”) became a lifeline to many OCNDS families struggling during the pandemic. At the end of each call, we ask every participant to say one word that describes how they are feeling at the end of the call. We frequently heard: " Connected ," " Grateful ," " Not alone ," " Understood ," " Excited ," " Togetherness ," " Hopeful ," and " Supported ."
Despite the continued COVID chaos of 2021, our families and researchers remain resilient and committed to our mission: finding a cure for Okur-Chung Neurodevelopmental Syndrome and ensuring affected individuals have the opportunities and supports necessary for happy and full lives .

New Goals for 2021-2023
Our mission will be achieved by our OCNDS community working together as one . If the last couple of years taught us anything, it is that we are better and stronger when we work together. We have a 3-board structure that supports our ability to accelerate the path to treatment: It consists of the Board of Directors, Scientific Advisory Board, and our PAB. We have extensive and lofty objectives for the next 3 years, which will only be achieved by the entire OCNDS community working together. Our objectives & goals for 2021-2023 are:

Engage, educate and empower the global OCNDS patient community and strengthen the patient voice ;
Remove barriers to participation such as language, scientific knowledge, and socioeconomic;
Provide opportunities for families, clinicians, and researchers to work together to set research priorities ;
Augment all of our Boards - Board of Directors, Scientific Advisory Board, and PAB - with diverse global experts;
Continue to develop reagents (e.g., IPSC cells, animal models) and make them widely available to researchers, which will make it easier for researchers to develop treatments for OCNDS and gain a better understanding of OCNDS;
Launch high-impact studies with researchers around the globe to investigate the cause, key cell types, and new treatment targets for OCNDS;
Maintain and grow our patient registry program ;
Facilitate and plan in-person and virtual family meetings to foster hope, community, collaboration, and a further understanding of OCNDS;
Continue to support the CSNK2A1/OCNDS international natural history study at Simons Searchlight and grow our biobank ;
Collaborate, brainstorm, and work with other rare diseases groups;
Raise the profile of OCNDS through media attention, public awareness campaigns, and advocacy;
Orchestrate expansion of fundraising efforts .

Research Update
There is HOPE! Science is progressing at a rapid rate. Rare diseases once thought to be incurable or untreatable are now being treated. We believe OCNDS will be one of these! In 2021, as COVID-19 continued to affect almost every aspect of life, our researchers continued the search for answers and a cure.
The road to treatment is complex and expensive. Fundraising is vital to our success and our ability to develop treatments. Thank you to our supporters, donors, and OCNDS families for making this dream a POSSIBILITY!
In 2021, we continued to fund our current grantees: Dr. Heike Rebholz , a neuroscientist and biochemist at the Institut de Psychiatrie et Neuroscience de Paris conducting a multi-year project studying the biochemistry of OCNDS, and Dr. Isabel Dominguez , a cell and development biologist at Boston University . We also engaged Taconic to make two more mouse models to add to our research toolbox, which will be used in current research projects.
The Chan Zuckerberg Initiative (CZI) announced $13 million in funding for 40 patient-led, rare disease advocacy organizations that are working alongside researchers and clinicians to accelerate research in their disease areas. "20 patient-driven rare disease organizations will join the initial 30 grantee organizations awarded in February 2020 as part of the Rare As One Network. Additionally, 20 separate rare disease groups will receive general operating support or core program support.” We congratulate the 20 organizations that were chosen for Rare as One Cohort 2. We are honored and grateful to receive a $50,000 grant from the CZI to support our quest to accelerate OCNDS research and find treatments and cures for OCNDS!
In Q1, we launched our CSNK2A1 Foundation Scientific Quarterly Roundtable. Quarterly, we bring researchers, clinicians, and innovators together to exchange ideas and accelerate the path toward treatment for OCNDS. These roundtables play a vital role in accelerating our OCNDS research agenda. Our researchers are successfully sharing data, collaborating, and publishing together.
91% of the patients reported with OCNDS have a missense mutation. We are discovering that other types of variants may also cause OCNDS. Dr. Okur and Dr. Chung are studying gene deletion (partial or whole gene) variants in the CSNK2A1 gene and its relation to OCNDS.
In 2021, we continued our collaboration with Simons Searchlight which is conducting a CSNK2A1/OCNDS long-term natural history study. Our community can gain important insight into OCNDS by participating in additional Simons Searchlight Surveys . The more surveys collected over time, the better picture our community, researchers, and doctors will have of what it means to have OCNDS. Sleep is a huge issue for most families in our community. In 2021, those OCNDS families signed up for Simons Searchlight had the opportunity to participate in a sleep survey, which helped us gain more insight into OCNDS and sleep.
Our President, Jennifer Sills, continued her 2-year on the Simons Searchlight Inaugural Community Advisory Committee (“CAC”). The CAC is to advise and guide research and community activities on behalf of all Simons Searchlight participants and gene groups. The CAC gives our Foundation the chance to provide our perspective on Simons Searchlight’s research priorities, offer feedback on research surveys and website functionality, and give input on articles, webinars, and other communications of interest to the community.
In continued collaboration with Simons Searchlight, in 2021, we enhanced our researcher toolbox by adding 9 patient-derived iPSC cells which are available to qualified researchers, institutions and companies. iPSC cells are Induced Pluripotent stem cells. iPSC cells are an important research tool for modeling and investigating rare diseases and drug screening. iPSC cells can be made from a patient blood sample or skin cells. Researchers take a person's skin or blood and reprogram them into iPCS cells, and then use those to grow liver cells, neurons, or whatever cell is needed to study a disease. Since we wouldn’t harvest neurons or brain cells from our children, we can use these iPSC cells and turn them into neurons for researchers to study. Researchers will be able to tell how a mutation on the CSNK2A1 gene affects neurons and other cells in the body.
At our conference in August, Dr. Chung issued a challenge to our OCNDS community to become part of the 100 game-changing OCNDS families. If 100 OCNDS families sign up for the Simons Searchlight long-term natural history study, she will have the information needed to write clinical practice guidelines. When someone is diagnosed with OCNDS, there are no clinical care guidelines for physicians. Clinical practice guidelines are recommendations on how to diagnose and treat a medical condition such as OCNDS . Clinical care guidelines are meant to help ensure that patients receive appropriate treatment and care. Currently, care varies wildly from patient to patient without these guidelines. We are changing this. We are actively recruiting families to join Simons Searchlight. In 2021, we had 37 new families join Simons Searchlight .
Unfortunately, COVID also kept our scientists from meeting in person again this year. On May 27th, together with SFARI and Simons Searchlight, we hosted our CSNK2A1 Annual Scientific Conference. There were 28 researchers, clinicians, and team members from across the globe sharing and collaborating to bring actionable results to our OCNDS community. The agenda included a short introduction to SFARI resources and funding opportunities, a short introduction of each participant’s research interests and how CSNK2A1 fits in with their interests, and an open discussion on the science.
We love seeing young scientists taking an interest in OCNDS & CSNK2A1 research. On August 3rd, Kamawela Leka was awarded $250 for being one of the top 10 posters out of the 45 posters for their work on CSNK2A1 that were presented during the Annual TGen HELIOS Scholar Symposium. Kami is currently working on their undergraduate thesis work under the guidance of Dr. Rangasamy and Dr. Narayanan at TGEN. The CSNK2A1/OCNDS research project at TGEN is focused on understanding the molecular mechanisms of OCNDS using cell and zebrafish models.
Awareness
Most people have never heard of OCNDS. We are changing this - one event, one social media post, and one t-shirt at a time. With awareness comes social acceptance and kindness, which can mean all the difference for a family struggling with basic daily activities. We host several awareness events throughout the year to shine a light on OCNDS. Rare Disease Day takes place on the last day of February each year . This year it fell on Sunday, February 28, 2021. The main objective of the campaign is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. On February 28th, we united with over 300 million people worldwide living with a rare disease to work towards more equitable access to diagnosis, treatment, care, and social opportunity . We loved seeing our OCNDS families bringing awareness to their communities for Rare Disease Day. Our PAB member, Amber Reynolds, created a new product line for her Rare Disease Day fundraiser, “Love Needs No Words!” She raised over $1600 from her t-shirt sales.
The Foundation hosted a Rare Disease Day 2021 Event with The Color-Coded Chef. Terri Jordan, the founder of The Color-Coded Chef, guided us through her amazing adapted Chocolate Chip Cookie recipe. Terri developed The Color-Coded Chef Kit, which promotes life skills for all ages & abilities through the power of cooking. This unique system emphasizes visual communication. The carefully designed interface removes many of the traditional barriers to cooking. From the UK to Hawaii, OCNDS families baked together! April 5th is International OCNDS Day. Our awareness day is April 5th because, in April 2016, the first paper describing OCNDS was published. Initially, there were five children identified in the paper with OCNDS. Soon these five children would be joined by others around the world. This year, we hosted our second International OCNDS Day. Following our theme of No Family Walk Alone, which launched an online awareness video campaign in which we asked the world to Stand With Us on this journey.
Other 2021 awareness - Our President, Jennifer Sills, had the privilege of being interviewed by Wordly COO, Kirk Hendrickson, regarding the unique challenges our foundation faces in removing barriers for our families to participate in our events (webinars, Q&A sessions, monthly family meetings). We continuously strive to ensure that all our families can share their stories and learn from each other. We are grateful for affordable platforms that help us extend our reach and accelerate our mission.
Fundraising ' In a time of great uncertainty, our donors’ generosity knew no bounds. This organization is run on the blood, sweat, and sometimes tears of volunteers. A vast majority of the money raised goes toward life-changing research, and the remainder goes to family educational programming to bolster the patient voice. With our donors’ generosity, we continued to fund life-changing research and vital family programming.
On October 16th & 17th, we hosted our first Run, Walk & Roll fundraiser and awareness campaign ! We invited friends, family, and supporters to move into action for OCNDS. We set a fundraising goal of $10,000. We surpassed our goal and raised over $18,000 . We also sold 163 event t-shirts. Families and supporters participated from all over the world: Australia, UAE, France, Italy, Austria, United Kingdom, United States, and Canada. A special thank you to everyone who created a Facebook fundraiser, including Team Brady, Team Kind Cordelia, Team Ellie, Michelle Proctor-Simms, Team Rockin’ Robin, Équipe Éden Romeo, Friends of Cody, Team Kirsty, Team Runnin’ with Rowan, Team Jules Rules, Abilgaile Firth, Jules’ Journey, Quinn Niess, Matilda’s fundraiser for OCNDS, Team Samuel, and Team Happy Harper.
On November 30, 2021, the world was united by Giving Tuesday, a global day of giving. We launched our No Family Walks Alone Campaign. We raised a record-breaking total of $168,749 from Facebook, Instagram, online donations, and mail-in donations, plus the matching donation. Thank you to all of our donors and supporters for making this a huge success! A heartfelt thank you to Joan & Charlie Davis for matching $50,000 of donations made to the Foundation. Facebook matched $1046 of donations made to CSNK2A1 Foundation for Giving Tuesday.
Empowerment & Education
Due to COVID-19 restrictions, our in-person scientific and family conference pivoted to a virtual event. In partnership with Simons Searchlight, the virtual family conference took place over 3 days in July and August. We had an overwhelming response to the virtual conference. PAB member Elisabeth Mellinger said, “my favorite session was the one where Dr. Dominguez, Dr. Rebholz, and Dr. Okur talked about research that is happening and how CK2 works in the body.” OCNDS Parent Penelope Gatlin mentioned that her second favorite was Understanding Problem Behaviors in Neurodevelopmental Disorders. Recordings of the conference sessions are available on our website. We hope to see everyone in person next year, 2022, in Baltimore.
In 2021, our PAB was incredibly busy. In February, they conducted the first-ever Needs Assessment Survey of the OCNDS community. The results from this survey would inform all Foundation decisions, including our research priorities and agenda. The survey consisted of 31 unique questions that collected both qualitative and quantitative information about OCNDS. 66 families participated in the survey, and 9 different languages were represented. We discovered:

The most common OCNDS symptoms reported were speech delay, global development delay, learning disabilities/cognitive impairment, delayed motor skills, low muscle tone, short stature, sensory processing issues, dental problems, Autism Spectrum Disorder traits, constipation, vision issues, eating small amounts, and ADHD.
The top reported concerns about people living with OCNDS right now are speech, independent living, toileting, education, fine and gross motor, self-care/hygiene/sleep, behavioral, emotional, and puberty. The overwhelming concern about the future was independent living, followed by what will happen to OCNDS children when their parents/caretakers are no longer alive.
75% of participants have heard of Simons Searchlight OCNDS Natural History Study, but only just over half of these families have actually participated. Many in our community do not know why participating in research is important and would like more information. We held a webinar to address these concerns and increase participation.

Receiving an OCNDS diagnosis can be overwhelming and heartrending. Our PAB understands how difficult it can be to navigate an OCNDS diagnosis. To help families on this journey, our PAB developed an OCNDS/CSNK2A1 Foundation brochure. This brochure can be shared with your family, friends, teachers, providers, and clinicians to learn more about OCNDS.
We partnered with Wordly Inc. to bring families from all over the world together using AI real-time translation technology. It is a vital part of our mission to strengthen and amplify the patient voice. By removing the language barrier to participation, we are ensuring that every OCNDS family, regardless of their native language, has a voice and can participate. We can now provide a space for non-English speaking OCNDS families to connect, share ideas, and drive research forward.
In 2021, we continued our Parent Education Webinar Series. We provide informational videos to help parents and patients navigate their rare diagnosis and inform them about the different types of interventions available. The more families know about different types of therapies and services, the more vital and vibrant OCNDS patients’ lives can be. In April, we hosted a webinar about Alternative Communication. Severe speech delay or inability to speak is one of the hallmark symptoms of OCNDS. The use of Augmentative-Alternative Communication (AAC) provides a “voice” and a means of communication to those who cannot rely on their natural speech to communicate. When children and adults cannot use speech to communicate effectively in all situations, there are options. And in December, we hosted a webinar about the benefits of Equine Therapy with Lulu Bogolin, Executive Director of Equine-Assisted Therapy, Inc., and PAB member, Terri Jordan.
The scientific language in published research papers can be so complex you may feel like you need a Ph.D. to understand what they are saying. To address this issue, in Q2, with the help of our researchers, we launched a new program called Research Explained . We ask researchers to explain their research in a language we can all understand . We believe we have a duty to make sure people affected by OCNDS and their families can easily understand their diagnosis and to empower them to be effective advocates. In 2021, two new OCNDS research papers were published in 2021, and our families could easily digest these papers with this new program in place.
Connection
Part of our mission is to foster connection and community for OCNDS families. OCNDS families can feel defeated, isolated, unheard, and unseen. Finding a community can make all the difference on this rare disease journey. We welcomed 64 new OCNDS families into our community. The new families spanned the globe: Poland, United Kingdom, Norway, France, Portugal, Romania, Italy, Malaysia, Canada, Spain, Brazil, Germany, United States, and Australia . With increased access to genetic testing, we will continue finding more families. Running a small but mighty rare disease organization takes a village and a vineyard. Our village is the lifeblood of our organization. We had 30 volunteers who generously donated their time. Our volunteers span the globe - from Australia to Italy to Texas to Los Angeles to Chicago to New York to San Francisco.
Partnership & Family Resources
Every year, we form more and more partnerships with other rare disease organizations. Working together and sharing ideas will only help us achieve our mission faster and more efficiently. In 2021, we became members of 2 different organizations:

REN - Rare Epilepsy Network. The mission of Rare Epilepsy Network (REN) is to work with urgency to collaboratively improve outcomes of rare epilepsy patients and families by fostering patient-focused research and advocacy.
Cal Rare. They are dedicated to improving the lives of rare disease patients in California . They are a coalition of rare disease stakeholders with the goal of raising awareness among the general public and decision-makers regarding rare diseases.

Conclusion
We are excited for 2022: "New year—a new chapter, new verse, or just the same old story? Ultimately we write it. The choice is ours." Our choice is to move into action to create opportunities for our loved ones with OCNDS to live their most independent, vital, and vibrant lives. There is no mountain too high for our OCNDS community. We will tackle every obstacle in our path to treatment. 2022 is the year of unlimited possibilities for our community.

Canadian Family Zoom Meet-Up

Fri, 17 Dec 2021 07:11:00 GMT

Join Canadian Parent Advisory Board members, Elisabeth Mellinger and Michelle Proctor-Simms, for a Canadian family Zoom Meet-up on January 10 at 5pm ET to talk and share stories about raising a child with a rare syndrome in Canada.

Contact info@csnk2a1foundation.org for meeting ID and password

Family Education Webinar Series Equine Therapy 101

Fri, 03 Dec 2021 07:24:00 GMT

Join us on Saturday, December 11th 8am Pacific as we speak with Lulu Bogolin, Executive Director of Equine-Assisted Therapy, Inc., about the benefits of Equine Therapy. This webinar will be recorded and available on our website.

After registering, you will receive a confirmation email containing information about joining the webinar.

What is covered in this webinar?

What is equine therapy
Benefits of equine therapy
What to look for in an equine center
What is the vestibular system

Who is Equine-Assisted Therapy, Inc.? Their mission is to provide horsemanship experiences to those with mental, physical, or psychological disabilities in order to enhance the quality and productivity of their lives

A little about Equine-Assisted Therapy, Inc. in their own words:

Equine-Assisted Therapy Inc. is a 51(c)3 non-profit and was started in 2004 by Ginni Hartke with a love of horses and the passion to help others. In 2019 Ginni retired naming Lulu Bogolin the new Executive Director. Currently, we have 2 locations in St. Louis County Missouri, 21 therapy horses, and serve 135 riders a week plus local groups. We collaborate with local school districts, The Alzheimer’s Assoc., St Louis Foster Care Coalition, Cancer Cares, Autism Services Inc, and many others. We currently utilize 150 volunteers a week and have 12 Certified Equine Therapy Instructors, most of whom are duly certified. Many also have degrees in Equine Therapy, Early Childhood Education, PT, and Speech Therapy. Our centers are recognized by PATH Intl., SpiritHorse Intl., and Equine Connections.

💗Today is Giving Tuesday

Tue, 30 Nov 2021 07:17:00 GMT

Dear Friends, Supporters, and Donors,

Today, November 30th is Giving Tuesday. Giving Tuesday is a global generosity movement unleashing the power of people and organizations to transform their communities and the world. On this #GivingTuesday, will you help us find a cure for OCNDS and ensure no family walks alone on this journey?

Every rare disease family has a unique story to tell about their rare disease journey. On average, it takes seven (7) grueling years for a family to receive a diagnosis. OCNDS takes a toll on families financially, emotionally, spiritually, and mentally. Rare life can be extremely hard, isolating, and heartrending.

Finding a community can make all the difference on this rare disease journey. It is life-changing when someone understands your rare disease journey. Part of our mission is to foster connection and community for OCNDS families. We do this through annual meetings, monthly family zoom calls, webinars, and peer support.

Time is of the essence. We need to find treatments or a cure for those living with OCNDS. From November 30th - December 31st, your gift will have DOUBLE the impact! Joan and Charlie Davis are matching gifts up to $50,000. Act now to fund twice as many life-changing OCNDS research programs!

Thank you for helping us turn hope into action!

2022 Annual Family Conference August 4-7

Tue, 23 Nov 2021 07:36:00 GMT

In partnership with Simons Searchlight, we are excited to announce our Annual Family Conference August 4-7, 2022 in Baltimore, Maryland.

Monthly OCNDS Family Zoom Call – December

Tue, 23 Nov 2021 07:20:00 GMT

Join us for our last OCNDS Family Zoom Meeting of 2021 . We will discuss successes, challenges, and our hopes for 2022. This meeting is only for primary caregivers, guardians, and those living with OCNDS.

When : Dec 18, 2021, 08:00 AM Pacific Time (US and Canada)
Register in advance for this meeting here

After registering, you will receive a confirmation email containing information about joining the meeting.

Monthly OCNDS Family Zoom Call – November

Tue, 16 Nov 2021 07:32:00 GMT

Join other OCNDS families for our NOVEMBER family monthly Zoom call to talk about all things OCNDS.
All languages welcome! We are using a new AI technology to enable participation across languages. The translation software works best if you use a laptop or a computer.
These calls are only for those with OCNDS and their primary caregivers.
WHEN: Nov 20, 20210, 08:00 AM Pacific Time (US and Canada) (Check your time zone) Register in advance for this meeting here . After registering, you will receive a confirmation email containing information about joining the meeting. Looking forward to seeing you there!

Giving Tuesday is November 30th!

Tue, 16 Nov 2021 07:29:00 GMT

No Family Walks Alone

"Nothing about Rare Disease is simple - not the diagnosis, not the daily care, not the long term." For #GivingTuesday, we are highlighting the power of connection when living with a rare disease.
Every rare disease family has a unique story to tell about their rare disease journey. On average, it takes 7 grueling years for a family to receive a diagnosis. OCNDS takes a toll on families financially, emotionally, spiritually, and mentally. Rare life can be extremely hard, isolating, and heartrending.
Finding a community can make all the difference on this rare disease journey. It is life-changing when someone understands your rare disease journey. Part of our mission is to foster connection and community for OCNDS families. We do this through annual meetings, monthly family zoom calls, webinars, and peer support.
On this #GivingTuesday, will you help us find a cure for OCNDS and ensure no family walks alone on this journey?

Double Your Support for OCNDS research

Time is of the essence. We need to find treatments or a cure for those living with OCNDS. From November 30th - December 31st, your gift will have DOUBLE the impact!
Joan and Charlie Davis are matching gifts up to $50,000. Act now to fund twice as many life-changing OCNDS research programs!

Q3 | September 2021 | IN THE LOOP

Thu, 07 Oct 2021 08:45:00 GMT

On October 16th & 17th, our global OCNDS community will MOVE INTO ACTION for our OCNDS Run, Walk & Roll Fundraiser! This event will help raise awareness and fund research for OCNDS. We set a goal of $10,000. We surpassed our goal and raised over $18,000. Thank you to everyone who donated and for the donations that are continuing to come in! A special thank you to everyone who created a Facebook fundraiser including Team Brady, Team Kind Cordelia, Team Ellie, Michelle Proctor-Simms, Team Rockin’ Robin, Équipe Éden Romeo, Friends of Cody, Team Kirsty, Team Runnin’ with Rowan, Team Jules Rules, Abilgaile Firth, Jules’ Journey, Quinn Niess, Matilda’s fundraiser for OCNDS, Team Samuel, and Team Happy Harper.
It isn’t too late to participate. And guess what? You don’t need to run to participate. This is called a run, walk, or roll. Our goal is for you to safely come together with others to bring awareness to OCNDS. Invite some friends and family to join you to Move Into Action TOGETHER for OCNDS. You can meet at the park, your street corner, the beach, or anywhere - get out of the house and move! You can RUN. You can WALK. You can ROLL whether on a bike, wheelchair, walker, scooter, roller skates, or rollerblades.

How will you move into action? We can’t wait to see all the creative ways people move into action. Share your Move Into Action photos & videos with us! Remember to tag us in your social media posts!

Videos from our virtual annual conference are NOW available!

Over 3 days in July and August, OCNDS families, friends, and researchers came together virtually for our annual family conference. Thank you to our partner, Simons Searchlight, for organizing an incredibly informative virtual conference.
We had an overwhelming response to the virtual conference. PAB member Elisabeth Mellinger said, “my favorite session was the one where Dr. Dominguez, Dr. Rebholz, and Dr. Okur talked about research that is happening and how CK2 works in the body.” OCNDS Parent Penelope Gatlin mentioned that her second favorite was Understanding Problem Behaviors in Neurodevelopmental Disorders. Which one was your favorite?
If you didn’t have a chance to tune in live, Simons Searchlight has you covered. Here is a link to the recorded sessions .
For non-English speakers who would like to watch the conference videos on YouTube, there is a closed captioning and language selection on the YouTube video itself. In the YouTube video, you first enable cc (closed captioning) and second use the gear button (Settings) to select your language. Here is a video in English to show you how to enable closed captioning in your native language.

Number of Families Found Q3

In the third quarter of 2021, we found 13 new families spanning the globe: USA, Australia, England, Sweden, Taiwan, Ireland, and Poland. Thank you to our volunteer interpreters who helped us connect with some of the new families this quarter.

100 Game-Changing OCNDS Families - OCNDS Clinical Care Guidelines

Will You Be A Game-Changing OCNDS Family?
Dr. Wendy Chung and Dr. Volkan Okur first identified Okur-Chung Neurodevelopmental Syndrome (OCNDS) in 2016. Most physicians and providers have never heard of OCNDS. When someone is diagnosed with OCNDS, there are no clinical care guidelines for physicians.
What are clinical care guidelines? Clinical care guidelines are recommendations on how to diagnose and treat a medical condition such as OCNDS . Clinical care guidelines are meant to help ensure that patients receive appropriate treatment and care. Currently, care varies wildly from patient to patient without these guidelines.
WE CAN CHANGE THIS! Watch Dr. Chung's Challenge to our community that will lead to the establishment of Clinical Care Guidelines for our community.
Steps to Become a Game-Changing Family

Upload the genetic report of loved one with OCNDS to Simons Searchlight

If you don’t have the genetic report, no problem. You can sign a consent form and Simons Searchlight will get the report for you.

Schedule your medical history phone interview

Complete your medical history phone interview

*Languages supported: English, Spanish & French (other languages coming soon)

EDUCATION

Continued Q&A Session Recording Now Available

We weren’t able to answer all the questions asked in the first Q&A session after the virtual conference. On September 26th, Dr. Wendy Chung, Dr. Volkan Okur, Dr. Heike Rebholz, and Dr. Isabel Dominguez joined us for an additional Question & Answer session to finish the questions asked during the initial conference Q&A. If you weren’t able to attend live, you can watch the video here .

Q&A with Dr. Cora Taylor

Attend the live Q&A with Dr. Cora Taylor on Friday, October 15 at 12noon ET/USA. She will answer your questions about education and early intervention, diagnosing autism, sleep, feeding, toileting, and behavioral interventions for people with autism or other neurodevelopmental conditions such as OCNDS. You can submit your questions ahead of time by emailing them to coordinator@simonssearchlight.org

AWARENESS

Awareness is the key to acceptance.
We are grateful for all the different ways our community brings awareness to OCNDS.

In August, our very own Parent Advisory Board member, Terri Jordan, was in the news for changing thousands of lives through her cooking program called The Color-Coded Chef which fosters independence through cooking! Way to go, Terri!

To learn more about The Color-Coded Chef visit: https://www.thecolorcodedchef.com/
In September, our President, Jennifer Sills, had the pleasure of being interviewed by Wordly COO, Kirk Hendrickson, regarding the unique challenges our foundation faces in removing barriers for our families to participate in our events (webinars, Q&A sessions, monthly family meetings). It was wonderful to share our story and shine a light on rare disease and the OCNDS community in a non-rare disease space. We continuously strive to make sure that all our families can share their stories and learn from each other. We are grateful for affordable platforms that help us extend our reach and accelerate our mission.

#MilestoneMondays

We celebrate Elyis! Elyis is a very happy 17-month-old! His mom shared: "He spends his days trying to keep up with his two older brothers! At 6-months-old he started weekly PT because he couldn't even hold his head up yet. Now he is trying to free stand!" Way to go, Elyis!

#RareDiseaseTruth

The Jansen's Foundation started #RareDiseaseTruth . Rare disease truths - something often not talked about because we try to remain hopeful and positive. Every Thursday, we share truths from our community.

"When our daughter was born her neurologist didn't know if she would survive. We were told to buy life insurance now to cover costs. Her doctor said he was out of ideas about what was going on and why. That if we ever figured out what was wrong, we were free to call him back and let him know. He told us good luck..."
Rare disease families shouldn't have to rely on luck. They deserve collaborative medical partners on this journey.

#DidYouKnow

Did you know that our PAB developed an OCNDS/CSNK2A1 Foundation brochure to help families on this journey? This brochure can be shared with your family, friends, teachers, providers, and clinicians to learn more about OCNDS. Please view and share our new brochure far and wide. Thank you to our PAB for creating this helpful tool for our community.

RESEARCH UPDATES AND OPPORTUNITIES

Young Scientists Taking An Interest in OCNDS

Kamawela Leka (Kami) was awarded $250 for being one of the top 10 posters out of the 45 posters for their work on CSNK2A1 that were presented during the Annual TGen HELIOS Scholar Symposium on August 3 at the Hyatt Regency Phoenix. Congratulations, Kami! They are a senior at Arizona State University pursuing dual degrees in Biomedical Engineering through the School of Biologic and Fulton Schools of Engineering. They are also working as a Research Intern at the Center for Rare Childhood Disorders (C4RCD), Neurogenomics Division at TGen. They are currently working on undergraduate thesis work under the guidance of Dr. Rangasamy and Dr. Narayanan, focused on understanding the molecular mechanisms of OCNDS using cell and zebrafish models. We love seeing young scientists taking an interest in OCNDS & CSNK2A1 research! Thank you, Kami, for your outstanding work!

Simons Searchlight Registry Infographic

Have you ever wondered, “how many children with OCNDS have seizures or low muscle tone or suffer from chronic severe constipation?” Every 3 months, Simons Searchlight publishes a registry report that includes answers to questions just like these. Click HERE to view the most current registry report on Simons Searchlight CSNK2A1/OCNDS participants. If you want to be included in future reports, join Simons Searchlight today ! Data presented in this report is gathered from families signed up for Simons Searchlight and who have completed the medical history phone call .

Deletions in CSNK2A1

Q3 Scientific Roundtable

CSNK2A1 Foundation hosts a quarterly Scientific Roundtable to bring together diverse researchers, clinicians, and innovators from around the globe to exchange ideas and accelerate the path towards treatment for OCNDS. These roundtables play a vital role in setting our OCNDS research agenda.
On July 20th, our Scientific Advisory Board and 2 board members hosted 6 institutions and 12 foundation-funded researchers to hear research updates and to discuss next steps. We were thrilled to hear how our researchers are successfully sharing data and collaborating together. We are looking forward to our next roundtable on December 1st.
For information or inquiries about our Quarterly Scientific Roundtable, please email at research@csnk2a1foundation.org

FAMILIES CONNECTING

Our Parent Advisory Board hosts monthly family Zoom calls. Families across the globe join. We use Wordly to provide live caption translation so ALL families can participate regardless of their native language. Everyone in our community benefits from more perspectives, more allies, and more hope! On these calls, we share the successes and challenges of OCNDS. We discuss everything OCNDS including toileting, hearing loss, anxiety, behavior, toileting, sleeping, and many other issues our loved ones face when living with OCNDS. These calls serve as a lifeline for many families struggling with basic daily activities.
We also have families connect via region or country through WhatsApp or Facebook Messenger to talk more specifically about issues that are specific to their geographic area. If you haven’t joined our smaller WhatsApp or Messenger groups, please contact Jennifer at jennifer@csnk2a1foundation.org and we can direct you to the appropriate group.

August Family OCNDS Zoom Call

September OCNDS Family Zoom Call

Mark Your Calendar

Behavioral Intervention Webinar with Dr. Cora Taylor October 15 Move Into Action Run, Walk or Roll Fundraiser October 16 & 17 Monthly OCNDS Family Zoom Calls October 23 November 20 December 18 Giving Tuesday Fundraiser November 30 Q4 Quarterly Scientific Roundtable December 1

How To Get Involved

As you are navigating this diagnosis, there are steps you can take to get informed, connected, and make an impact today!

One of the easiest ways to help bring awareness to OCNDS is by sharing our content across social media. One easy way to get involved is to “like” our Facebook page and ask your friends to “like'' our page. Follow us on Twitter , Instagram , and Linkedin .

Have special skills or talents and would like to donate your time? There are many volunteer opportunities available at the Foundation. Email us at volunteer@csnk2a1foundation.org to get involved.

Friends, family, and providers can join our closed Facebook group to share ideas and learn more about OCNDS. Join now .

Monthly OCNDS Family Zoom Call – October

Thu, 30 Sep 2021 08:49:00 GMT

Join other OCNDS families for a monthly Zoom call to talk about all things OCNDS. All languages welcome! We are using a new AI technology to enable participation across languages.
When: Oct 23, 2021 08:00 AM Pacific Time (US and Canada) (Check your time zone)

After registering, you will receive a confirmation email containing information about joining the meeting.

Monthly OCNDS Family Zoom Call – September

Thu, 02 Sep 2021 08:52:00 GMT

Join other OCNDS families for a monthly Zoom call to talk about all things OCNDS.
All languages welcome! We are using a new AI technology to enable participation across languages.
When: Sep 25, 2021 08:00 AM Pacific Time (US and Canada) (Check your time zone)
Register in advance for this meeting here .

After registering, you will receive a confirmation email containing information about joining the meeting.

Q&A with Dr. Cora Taylor: Behavioral Interventions for the Simons Searchlight Community

Mon, 30 Aug 2021 08:56:00 GMT

Back by popular demand is another live Q&A with Cora Taylor, PhD!

On Friday, October 15 from 12:00 pm – 1:00 pm ET (Eastern Time Zone/USA), Taylor will answer your questions about education and early intervention, diagnosing autism, sleep, feeding, toileting, and behavioral interventions for people with rare neurodevelopmental disorders. This will stream on Zoom and Facebook Live – details coming soon! You are invited to submit your questions ahead of time. Please email your questions to coordinator@simonssearchlight.org .

Monthly OCNDS Family Zoom Meeting

Tue, 24 Aug 2021 09:00:00 GMT

Join us this Sunday, August 29th, for our monthly OCNDS Family Zoom meeting at 8:30 AM Pacific Time.

Pre-register for this talk here .

ALL languages welcome. We will be testing a new AI platform that will live caption the discussion.
Come and share about back-to-school, concerns about the new Delta variant, and any challenges your family is experiencing.

Let’s check-in with each other!

German-speaking Family Zoom Call

Mon, 23 Aug 2021 09:06:00 GMT

Save the Date!

For the German-speaking Family Zoom Call

Saturday, August 28, 2021

8pm – Vienna time

Move into Action for OCNDS Run, Walk, & Roll

Mon, 23 Aug 2021 09:04:00 GMT

REGISTRATION IS OPEN for our Virtual Run, Walk & Roll on October 16th & 17th.

Register here

Join our worldwide OCNDS community on OCTOBER 16TH & 17TH for our MOVE INTO ACTION for OCNDS Run, Walk & Roll Fundraiser! This event will help raise awareness and fund research for OCNDS.
DO I NEED TO RUN TO PARTICIPATE? Absolutely not! This is called a run, walk, or roll. Our goal is for you to safely come together with others to bring awareness to OCNDS. Invite some friends and family to join you to Move Into Action TOGETHER for OCNDS. You can meet at the park, your street corner, the beach, or anywhere – get out of the house and move! You can RUN. You can WALK. You can ROLL whether on a bike, wheelchair, walker, scooter, roller skates, or rollerblades.
STEPS TO PARTICIPATE: Step 1. Register to run/walk/roll the virtual 5k or 1 mile, and invite your family and friends to join! Give your t-shirt size and mailing address. Step 2. Go Solo or Join a Team or Create a Team and invite your friends to join.

Remember to share our CSNK2A2 Foundation posts across social media!

Save the Date for the Drive for Diagnosis 2022 Golf Classic

Wed, 18 Aug 2021 09:26:00 GMT

Save the Date for the Drive for Diagnosis 2022 Golf Classic

Benefitting all CSNK2A1 Foundation Research Programs

Monday, April, 11 2022 El Caballero Country Club Tarzana, California

Download the 2022 Drive for Diagnosis Golf Classic Sponsorship Package and/or access the online Sponsorship Package here
El Caballero Country Club recently celebrated its official relaunch following a three-year, $10 million renovation to modernize and increase the environmental sustainability and playability of its championship golf course.

Register for Additional OCNDS Conference Q&A Session w/ Researchers

Mon, 16 Aug 2021 09:10:00 GMT

Thank you to everyone who participated in the CSNK2A1 Foundation/OCNDS Research 2021 Update.
We had such an overwhelming response that we weren’t able to answer all the questions posed in the Q&A session. Dr. Wendy Chung, Dr. Volkan Okur, Dr. Heike Rebholz, and Dr. Isabel Dominguez are joining us for an additional Question & Answer session to finish the questions asked during the initial conference Q&A. Please join us on September 26, 2021, at 10 am Pacific Time (U.S. and Canada) for this additional Question & Answer Session.

Register in advance for this webinar HERE

After registering, you will receive a confirmation email containing information about joining the webinar.
We partnered with a new AI technology company to support live language translation during the webinar. All languages supported. More information to follow about language caption services for the webinar.

If you missed the Foundation 2021 update, you can watch it here
If you missed Dr. Wendy Chung’s Simons Searchlight 2021 Update, you can watch it here
If you missed our Researcher 2021 Update, you can watch it here
If you missed the initial Q&A, you can watch it here

See you on September 26th . If you are unable to attend, this session WILL be RECORDED .

Canadian Family Zoom Family Meet-Up

Fri, 09 Jul 2021 09:14:00 GMT

Join Canadian Parent Advisory Board members, Elisabeth Mellinger and Michelle Proctor-Simms, for a Canadian family zoom meet-up on September 20th at 5pm ET to talk and share stories about raising a child with a rare syndrome in Canada.
Topic : OCNDS/CSNK2A1 Canadian Family Meet up Time : Sep 20, 2021 05:00 PM Eastern Time (US and Canada)

Contact info@csnk2a1foundation.org for meeting ID and password.

Monthly OCNDS Family Zoom Call

Tue, 06 Jul 2021 09:29:00 GMT

Join Parent Advisory Board member, Rhiannon Cramer, for our monthly OCNDS family Zoom call where families can connect, ask questions and share their stories.
This Friday, July 9th, at 4pm Eastern Time (here is a website to convert the time to your time zone: https://www.thetimezoneconverter.com/ )
Topic : CSNK2A1/OCNDS Monthly Family Zoom Call Time : Jul 9, 2021 04:00 PM Eastern Time (US and Canada)

Contact info@csnk2a1foundation.org for meeting ID and password.

Newsletter Q2 2021

Wed, 30 Jun 2021 01:57:00 GMT

Q2 | June 2021

IN THE LOOP

CSNK2A1 Foundation Quarterly Newsletter

Together with our partners Simons Searchlight, we are excited for our 2021 Virtual Family & Research Conference.

Check out the agenda , register, and join us for the conference. Here’s what you can expect:

Presentations for general sessions are based on a daily theme: Science & Medical on July 30, and Services & Therapies on August 6
Plenty of time for Q&A throughout the conference
CSNK2A1 presentations for sharing knowledge and having discussions
Networking opportunities to connect with other families, researchers, and organizations
Multi-language captioning (subtitles) for all presentations

Below is important registration information:

Please NOTE, there are two different registrations...you must register separately for the general session and for the gene-specific conference. If you have any questions about the conference, you can reach out to Simons Searchlight at conference@simonssearchlight.org or to Jennifer Sills at jennifer@csnk2a1foundation.org

Number of Families Found Q2

In the second quarter of 2021, we found 16 new families spanning the globe . Thank you to our volunteer interpreters who helped us connect with some of the new families this quarter.

Needs Assessment Survey Results

In February, our Parent Advisory Board conducted a Needs Assessment Survey to learn more about the needs of our OCNDS community (patients, caregivers, extended family). The survey consisted of 31 unique questions that collected both qualitative and quantitative information about OCNDS. Thank you to the 66 families who participated in the survey. Families from all over the world participated: 9 different languages were represented. The results of the survey informed our new brochure for OCNDS families developed by our Parent Advisory Board, which is available on our website.

We discovered that 83% of OCNDS families’ lives were negatively affected by Covid closures. A lack of services and social interaction, the challenges of home learning, and a lack of respite all led to a decline in mental health for many.
The most common OCNDS symptoms reported were speech delay, global development delay, learning disabilities/cognitive impairment, delayed motor skills, low muscle tone, short stature, sensory processing issues, dental problems, Autism Spectrum Disorder traits, constipation, vision issues, eating small amounts and ADHD.

The top reported concerns about people living with OCNDS right now are speech, independent living, toileting, education, fine and gross motor, self care/hygiene/sleep, behavioral, emotional and puberty. The overwhelming concern about the future was independent living followed by what will happen to our children when the parents are no longer alive.

We discovered that about 75% of participants have heard of Simons Searchlight OCNDS Natural History Study but only just over half of these families have actually participated. Many in our community do not know why participating in research is important and would like more information. We held a webinar to address these concerns. We need you to represent yourself in the research. Please help us to improve these findings.

OCNDS/CSNK2A1 Foundation Brochure

Receiving an OCNDS diagnosis can be overwhelming and heartrending. Our Parent Advisory Board (PAB) understands how difficult it can be to navigate an OCNDS diagnosis. To help families on this journey, our PAB developed an OCNDS/CSNK2A1 Foundation brochure. This brochure can be shared with your family, friends, teachers, providers, and clinicians to learn more about OCNDS. Please view and share our new brochure far-and-wide. Thank you to our PAB for creating this helpful tool for our community. It will be available in multiple languages soon.

Featured Q2 Blog Post

Many people believe that if you have an OCNDS diagnosis, you can't have autism. This is NOT true. Many of those with OCNDS also have a diagnosis of autism. Parent Advisory Board member Amber Reynolds always thought her daughter had autism. Doctors would dismiss Amber and tell her (even without proper testing) they "just knew" that her daughter didn't have autism. However, after seeking a second opinion, it is clear that her daughter has OCNDS and AUTISM. She urges all families: "So Mamas and Dads, if you feel that your child “might” have autism, it doesn’t hurt to go get testing done. The services and therapies that are offered and covered could significantly help our kiddos." Read more about their journey here.

EDUCATION

Research Explained

The scientific language in published research papers can be so complex you may feel like you need a PhD to understand what they are saying. To address this issue, in Q2, with the help of our researchers, we launched a new program called Research Explained. We ask researchers to explain their research in a language we can all understand. We believe we have a duty to make sure people affected by OCNDS and their families can easily understand their diagnosis and to empower them to be effective advocates. The more information we have, the more we can create a life for those living with OCNDS and their families that is vibrant, vital, and worthwhile. Thank you to the researchers participating in this program.
More specifically, thank you to Dr. Heike Rebholz for explaining foundation-funded research, “ Okur-Chung Neurodevelopmental Syndrome-linked CK2x variants have reduced kinase activity. ”

And thank you to Sarah C. Goetz. PhD and Abdelhalim Loukil. PhD for explaining “A complex of distal appendage-associated kinases linked to human disease regulates ciliary trafficking and stability.”

Parent Education Webinar Series - Alternative Communication

In April, we hosted our quarterly Parent Education Series Webinar with Speak for Yourself, LLC about Alternative Communication. You can watch it here . The use of Augmentative-Alternative Communication (AAC) provides a “voice” and a means of communication to those who cannot rely on their natural speech to communicate. When children and adults cannot use speech to communicate effectively in all situations, there are options. Inability to speak or severe speech delay is one of the hallmark symptoms of OCNDS. Caregivers and parents are always looking for ways to ease the frustration of those living with OCNDS. Thank you to Jenny Matt, M.S., CCC-SLP, Nicole Trip, M.S., CCC-SLP, and Krista Kiernan, M.S., CCC-SLP for donating your time to educate our community.

Be on the lookout for details regarding our Q3 Parent Education Webinar.

AWARENESS

International OCNDS Awareness Day

April 5th was International OCNDS Day. We were touched by the overwhelming support our families received on this day. We loved receiving the pictures and videos of families and friends celebrating all over the world. Here are a few:

Thank you to our donors, supporters and friends for STANDING WITH US on OCNDS Awareness Day and making it a huge success by donating, sharing our content, and learning more about OCNDS.

#MilestoneMondays

Each Monday join us to celebrate #MilestoneMondays . We highlight an individual living with OCNDS and celebrate a milestone that they have achieved. Those living with OCNDS have many daily challenges. Some challenges are as basic as swallowing, toileting, dressing themselves, putting on a seatbelt, and making friends. Individuals with OCNDS have to work harder than the average person to reach the smallest of milestones.

Today we celebrate Jules! Jules is 12 years old. Her parents describe her as a budding chef, spicy, clever, determined, and full of life. She has OCNDS and is non verbal. This past year, she started calling her dad, "dada." Most children reach this milestone in their first year. Jules' dad shared with us: "As the years passed, I thought Jules would never call me, dada. I've had many dreams where I hear her voice and she speaks. When Jules said dad for the first time, I thought I was dreaming. I love her voice. Every time she says dada I am reminded to never give up and never underestimate the amazing things she is capable of. Her body is failing her due to OCNDS, however she fights like crazy every day to reveal all the words and thoughts swirling in her clever brain. Dada loves you, Jules." Way to go, Jules!

#RareDiseaseTruth

The Jansen's Foundation started #RareDiseaseTruth. Rare disease truths - something often not talked about because we try to remain hopeful and positive. Every Thursday we are sharing truths from our community.

Thank you A.R., an OCNDS parent, for starting this conversation in our community and sharing your #RareDiseaseTruth. "It hurts my mama heart that our daughter has never been invited for a playdate or a sleepover. I am always inviting other kids over to our house so my daughter feels special. But I would love for her to be invited over for a playdate or sleepover for two reasons. One, most importantly, for my daughter to feel loved and special. Two, just to have a mama break of respite.”

#DidYouKnow

Did you know your shopping makes a difference? AmazonSmile is a simple way for you to support the CSNK2A1 Foundation every time you shop, at no cost to you. You can help increase AmazonSmile donations to CSNK2A1 Foundation by shopping at AmazonSmile ON in the Amazon Shopping app. Simply follow these instructions to turn on AmazonSmile and start generating donations.

Open the Amazon Shopping app on your device
Go into the main menu of the Amazon Shopping app and tap into 'Settings'
Tap 'AmazonSmile' and follow the on-screen instructions to complete the process

Join us every Wednesday on our social media channels for our #DidYouKnow series.

RESEARCH UPDATES AND OPPORTUNITIES

Deletions in CSNK2A1

Q2 Scientific Roundtable

CSNK2A1 Foundation hosts a quarterly Scientific Roundtable to bring together diverse researchers, clinicians, and innovators from around the globe to exchange ideas and accelerate the path towards treatment for OCNDS.
On April 13th, our Scientific Advisory Board and 2 board members hosted 7 institutions and 12 foundation-funded researchers to hear research updates and to discuss next steps. These roundtables play a vital role in setting our OCNDS research agenda. We were thrilled to hear how our researchers are successfully collaborating together. We are looking forward to our next roundtable on July 20th.

For information or inquiries about our Quarterly Scientific Roundtable, please email at research@csnk2a1foundation.org .
Annual CSNK2A1 Scientific Conference

On May 27th, together with SFARI and Simons Searchlight, we hosted our CSNK2A1 Annual Scientific Conference. There were 28 researchers, clinicians and team members from across the globe sharing and collaborating to bring actionable results for our OCNDS community. Unfortunately, due to COVID restrictions, we were virtual again this year, however for 2022, we anticipate being in-person. Thank you to everyone for your efforts and contributions!

Simons Searchlight Research Opportunity

Simons Searchlight is led by scientists and doctors. They collect information to help learn more about rare genetic conditions. Over 2,800 people with rare conditions and their families are registered in Simons Searchlight, and more than 60 research papers have been published from their data.

If you have already done so, thank you for registering in Simons Searchlight and for uploading your genetic lab report. One of the most important next steps is to complete a medical history interview .

So far, 27 OCNDS families have completed their medical history interview. It is an important step forward for research. Every person with OCNDS has unique symptoms and genetics, and more data are needed for scientists to study all aspects of the Condition.

The next step is to schedule a call for your medical history interview . During the call, you will talk with a genetic counselor about your experiences with OCNDS. This will help to make sure that you are fully represented in the research presented by Simons Searchlight. Families have found it easy to participate.

PAB member, Claire, shared this about her medical history interview: “It was like a friendly conversation about my child, not at all intimidating, I was worried I wouldn’t know what to say, but it was very easy and pleasant. The Simons Searchlight genetic counselor was really interested to hear our stories and history.”

The medical history interview is a conversation about your child, of which you are the expert. You will be asked about medications your child is taking and if they have hearing or vision problems or seizures, for example. There are 2 ways to schedule your call.

Go to your Simons Searchlight dashboard by logging into your account here . Select the ‘Schedule Medical History Phone Interview’ from your task list. or
If you can’t remember your login information or you’re having trouble logging into your dashboard, you can email the Simons Searchlight coordinator to help you through the process at coordinator@simonssearchlight.org

After completing the medical history interview and surveys, parents get an Amazon gift card for their time, as a way of saying thank you from Simons Searchlight. Gift cards can be redeemed at any time on your dashboard.
Simons Searchlight Sleep Survey

Sleep is a huge issue for most families in our community. For those signed up for Simons Searchlight, head over to your dashboard to complete the surveys on sleep for kids between the ages 2 - 18! If you haven't signed up for Simons Searchlight, do so today to be part of ongoing research!

Simons Searchlight Registry Infographic

Every quarter, Simons Searchlight publishes a quarterly registry report with updated data on Simons Searchlight CSNK2A1 participants. If you want to be included in future reports, join Simons Searchlight today ! Data presented in this report is primarily gathered from the medical history phone call.

New Publications in Q2

To date, there have been 14 papers published on OCNDS. There were 3 new OCNDS research papers published in Q2. Read them here and share them with your providers. Don’t forget to visit our Research Explained page.

FAMILIES CONNECTING

Finding a community can make all the difference in a rare disease journey. During these unprecedented times of COVID, it is even more important to stay connected. To keep our families connected, our Parent Advisory Board hosts Zoom calls to discuss a variety of topics ranging from epilepsy management to puberty to transitioning into adulthood. Recently, we shifted from quarterly to monthly family calls. These calls serve as a lifeline for many families struggling with basic daily activities. We also have families meeting up via region or country through What’s App or Facebook Messenger to talk more specifically about issues that are specific to their geographic area. If you haven’t joined our smaller What’s App or Messenger groups, please contact Jennifer at jennifer@csnk2a1foundation.org and we can direct you to the appropriate group.

Language can be a barrier to participation in everything related to rare disease (e.g., doctor’s appointments, research, therapies, school, and connecting with other families). To increase our global participation, we have invested in AI technology that will allow our families throughout the globe to meaningfully participate in our monthly family Zoom calls without the need of a live translator. This is a big deal for us because we have 9 different languages represented in our OCNDS community. We are excited to see how this AI platform can help our families connect and be more informed. Thank you to our donors who make programs like these possible, ensuring our entire community’s voice is heard.
1st Australian Family Zoom Meet-up April 15, 2021

CSNK2A1/OCNDS Family Call on Early Intervention & Entering School Age May 15, 2021

1st UK Family Zoom Meet-Up May 16, 2021

1st Canadian Family Zoom Meet-Up

On June 7th, seven Canadian families met for the 1st time on Zoom. One mom said, “Thank you, it gave me a lot of hope to have so much support.”

MARK YOUR CALENDAR

Q3 Quarterly Scientific Roundtable

July 20

Virtual Conference

General session presentations on Friday, July 30 & August 6 CSNK2A1 presentations on Saturday, August 7

Monthly OCNDS Family Zoom Calls

July 9 August 28 September 25

Save the date - Virtual Fun Run, Walk or Roll Fundraiser

October 9 & 10

HOW TO GET INVOLVED

As you are navigating this diagnosis, there are steps you can take to get informed, connected and to make an impact today!
Have special skills or talents and would like to donate your time? There are many volunteer opportunities available at the Foundation. Email us at volunteer@csnk2a1foundation.org to get involved.

Help us bring awareness to OCNDS by sharing our content across social media. One easy way to get involved is to “like” our Facebook page and ask your friends to “like'' our page. Follow us on Twitter , Instagram , and Linkedin .
Friends, family and providers can join our closed Facebook group to share ideas and learn more about OCNDS. Join now .

OCNDS/CSNK2A1 Foundation Brochure

Tue, 29 Jun 2021 02:02:00 GMT

This brochure can be shared with your family, friends, teachers, providers, and clinicians to learn more about OCNDS. Please share our new brochure far-and-wide.

Thank you to our PAB for creating this helpful tool for our community. It will be available in multiple languages soon.

Simons Searchlight 2021 Family & Research Conference

Tue, 22 Jun 2021 02:09:00 GMT

Our friends at Simons Searchlight have announced their 2021 Virtual Family & Research Conference and you’re invited!

Here’s what you can expect:

Presentations for general sessions are based on a daily theme: Science & Medical on July 30 and Services & Therapies on August 6.
Plenty of time for Q&A throughout the conference.
CSNK2A1 & CSNK2B community presentations for sharing knowledge and having discussions.
Networking opportunities to connect with other families, researchers, and organizations.
Multi-language captioning (subtitles) for all presentations.

Below is important registration information:

If you have any questions about the conference, you can reach out to Simons Searchlight at conference@simonssearchlight.org .
About Simons Searchlight and joining the study
Simons Searchlight is an international research study that is on a mission to speed up the genetic science of disorders related to autism and brain development.
To grow knowledge around CSNK2A1 and CSNK2B, we encourage all families to register in Simons Searchlight.
The process to join is simple and is done online — all you have to do is register, upload your genetics result report, and complete surveys, including a phone interview with a genetic counselor.
The best part is that Simons Searchlight is sharing all this information with medical professionals and researchers who are interested in studying CSNK2A1 and CSNK2B. We know that in rare disease research, it is so important for everyone to be counted – that means YOU!
Learn more about Simons Searchlight here .

Download a pdf of the below agenda here .

2021 Transitions of Care Summit

Wed, 19 May 2021 02:15:00 GMT

Our friends at the Child Neurology Foundation are hosting their inaugural Transitions of Care Patient Advocacy Summit , bringing stories and expert insights covering all stages of the transition process from pediatric to adult care.
Join us June 15th-24th for multiple events focused on ensuring that young adults living with a neurologic condition and those who support them have the knowledge, tools, and confidence to be able to make the process a success.
The summit will include 7 live talks and 3 pre-recorded videos released to registrants at the start of the event.

Here is a sneak peak at the line-up:

During The Summit ...
When you attend the 2021 Transitions Of Care Summit, you will:

Learn how to share your story and advocate through the transitions of care process.
Learn about building a community and advocating for equitable environments.
Connect with experts with multiple perspectives in the child neurology community.

Practical Tools to Address Sleep Problems Webinar

Tue, 18 May 2021 02:20:00 GMT

June 14, 2021 11:00 AM in Central Time (US and Canada)

Our friends at the Child Neurology Foundation are hosting a webinar on June 14th to hear from a parent of child living with a neurologic condition and a child neurologist/sleep specialist about the importance of sleep management for our community.
Get insights into how to manage your child's sleep and get questions answered such as:

What is a sleep study and when should it be considered?
When is a sleep aid really needed?
Is CBD something I should use for my child?

Autism Diagnosis

Mon, 17 May 2021 02:29:00 GMT

by Amber Reynolds
Mamas, always listen to your heart, your gut, your instinct. Since Harper was a couple months old, I knew something wasn’t quite right. People just said, she’s fine, she’s just a little behind, and to stop reading baby books.
At her one year appointment, her pediatrician finally decided to send us to some specialists to figure out why Harper was delayed. After seeing a neurologist, geneticist, and getting MRI’s, EEG’s, and blood work galore all they could tell us was that Harper’s brain was significantly underdeveloped and that they knew whatever she had was due to genetics. At the age of 2, I still felt in my heart it was more than genetics, of a diagnosis we didn’t know yet, and I still felt that she had autism. I had read books, watched videos, and researched galore. I went and saw a specialist and she told me the same answer, it was just genetics, and she needed to change her diet to Gluten and Dairy free.
Harper was then on this diet for years, we saw a few changes in her behavior, but nothing dramatic. She still stimmed, flapped her hands, was nonverbal, tip toe walked, had sensory processing disorder, and wasn’t too keen on people hugging, or touching her. So a couple of years later I asked her Neurologist again, he still said nope, I can just tell she’s not autistic.
Shortly thereafter, we found out Harper’s genetic report came back that she had Okur-Chung Neurodevelopmental Syndrome. So I thought, okay, the two diseases must just have a lot of similarities, and Harper just has OCNDS. Well after learning more about OCNDS, and seeing that a lot of children ALSO had autism, I decided to go get a second opinion at a new neurologist. The doctor decided to do several different tests, which no one had ever tested Harper, they just looked at her and said she doesn’t have autism. (which I’m not sure how you can tell by looking at someone). SO after completing the Adolf, CARS, and ELS, and paperwork, they determined that Harper 100% has autism and is definitely on the spectrum. I cried at the appointment because I have ALWAYS known she had autism, and it was frustrating at the therapies and services she had missed over the years, or the services we had to pay out of pocket for not having a diagnosis at the time or a diagnosis that insurance wasn’t familiar with.

So Mamas and Dads if you feel that your child “might” have autism, it doesn’t hurt to go get testing done. The services and therapies that are offered and covered could significantly help our kiddos.

The Fight Continues, But I Am Not Giving Up

Mon, 17 May 2021 02:25:00 GMT

By Elisabeth Mellinger
From the day Matilda was born, I had a sense that something was different about her. As she grew, very slowly, I kept asking doctors about my concerns, but they would always push them aside with comments about how cute she was, and how she was just a late bloomer and to be patient. While I completely understand and value the idea that each child needs to do things in their own time, all of those words meant to minimize my concerns only added to my anxiety and worry that my child needed help and was not getting it. Every milestone came right at the end of the window of “normal” so I was told not to worry. Her weight gain and growth were slowly creeping down the chart, but since she was still on it and she was born weighing almost 9lbs, they were not concerned. She was healthy, she was sweet, she was cute, she was fine. But still my instincts told me: she needs help.
When her 2 year birthday rolled around and she still was not babbling or making words, finally the doctors listened and sent us to early intervention for speech therapy. This began our journey navigating a system that is very difficult to navigate. We had speech therapy 2 times a week and sounds started coming out. Progress in other areas was still slow and I fought for PT and OT assessment through the early start program, but again was told she wasn’t far enough behind. I was filled with the dread that my child needed help to keep progressing, but first she would need to fall further behind. There is nothing more terrifying to me than watching my child fall between the cracks and wondering at what point she will be deemed far enough behind to receive help. What happens to her sense of self in the meantime, as she watches other kids her age literally run and talk circles around her on the playground? When she sits at the craft table unable to hold a crayon while the other kids colour and draw magnificent stories and glue glitter onto paper shapes they’ve cut out. Matilda spent a lot of time sitting and watching, observing the world without participating. She still does, she watches and sees everything. With the help of Matilda’s grandma, who is an educator, and saw the struggles she was having, we were able to start private OT for her at the age of 4. This helped her so much! She finally started making progress and even catching up to her age level. We still struggled with multiple meltdowns a day, but it felt like now we had someone else on our side. Through our OT we heard of an opportunity to participate in a study that Dr. Alysa Marco was doing to find a biological basis for Sensory Processing Disorder (SPD) as a stand alone diagnosis separate from autism and ADHD. We jumped at the chance, since this was basically the situation we were in with Matilda. She had developmental delays, but not significant enough to be flagged, and she had SPD, but no one at the time recognized it as a diagnosis, in fact it is still not recognized as a diagnosis, only a symptom of other conditions. Through this study, Matilda received an IQ test and the results floored me. Matilda was below the average range, but above a score required to have an intellectual disability. She was IN the crack. Suddenly my world came crashing down around me and yet everything was crystal clear. For all the doctors who called her “bright and cute” I now had evidence that NO! she’s struggling! Thanks to this IQ test, we were able to qualify for a neuro-psychological assessment through our insurance, and thanks to our participation in the study, we were able to get in to see Dr. Marco quickly.
Dr. Marco started us down the journey of genetic testing. She did a micro-array and while some duplications and deletions were found, none were of significance. We were about to move to Canada, and she counselled me to immediately find someone to do a Whole Exome Sequencing (WES) to look for another genetic cause to Matilda’s issues. This began my 4 year journey with the genetics wait lists that are painfully common in Canada. Every 6 months I would call, and the wait list grew from 18 months, to 2 years, to 3 years (this was after a year of trying to convince the pediatrician to make the referral in the first place). Finally I started panicking, we had been on the list for 2 and a half years, and my husband had just been offered a job in a different province, which meant we were moving at the 3 year mark of our wait. I was not about to start at the bottom of another wait list to see a geneticist in a different province. I desperately pleaded with the nurse, but also committed to travelling back if we needed to, but we had to stay on the wait list, we were not going to start over. She agreed and a month before we were to move, we got an appointment, for 2 months later…in the middle of the road trip we were taking to move and be able to accompany Matilda’s dad to his summer festivals. So I begged the scheduling nurse, told her our situation, made it clear that we would fly back for the day if we had to (and we had found a very expensive itinerary to do so) and a week later….a cancellation was made…for the day before our departure date. We took it!
Because we were moving out of the province, the geneticist had to be a little savvy. She knew that it was difficult to get approval for WES and would take longer, and that the provincially funded health insurance could use our move as an excuse to delay the approval and then reject it when they caught wind of our new address when we applied for coverage in our new province. So they did a developmental panel, thinking it was the most likely place they’d find something, and then if nothing was found, they could request that the lab then open up the result to reveal WES, since that particular lab actually sequenced the Whole Exome for every sample, but only searched the necessary panels to report to the geneticist. So even though Matilda had short stature and some other features outside of the developmental panel, we started there. Nothing came back (which was good information for the CSNK2A1 foundation, since they were able to contact the lab and make sure that they began to include the CSNK2A1 gene on their developmental panel!) so we opened it up to WES. And then after 6 months of waiting, we had our answer: Matilda has OCNDS.
It explains everything. It explains why she is so small for her age, why her bone age is 2 years behind her chronological age, why she has a low IQ and trouble keeping up in school, why she has SPD, why she is constantly sick. I looked at this website and saw for the first time kids that looked like my daughter, when she had never quite looked like anyone in the family, even though she did. And it finally gave me something to write on the forms when I was asking for help and services for her. And for the first time; we were approved. It’s possible that also for the first time, she was far enough behind, and that makes me feel really sad. Because after we moved to Canada, we were no longer able to afford to give her weekly OT, and the OT we found, didn’t follow the same program we had been using, and I didn’t have the energy for another fight, so she struggled for 5 years and fell further behind. Now that we have services, she is getting OT every other week with additional psychological support for anxiety. It has helped tremendously AND she needs more help. Each contract is only 6 months long, so the fight continues, but I am not giving up. And neither is Matilda. After 14 years of fighting, I am so tired, but I know nothing else, so I have to keep going.
Being connected to others with OCNDS through the foundation has given me new strength and given us a community. Matilda is proud of her genetic diagnosis and has started advocating for herself by speaking about it openly. I can’t even imagine what the future will look like for her, but I hope that my work on the Parent Advisory Board will help make that future a little brighter and more inclusive for her and all those with OCNDS.

Matilda is a kind and joyful girl who loves animals, swimming, dressing up, singing, and dancing. She teaches me how to be present every day and see the good in things. She deserves to live the best life that she possibly can. My hope is that by participating in the Natural History Study at Simons Searchlight, and encouraging others to do the same, more information will be made available to researchers, doctors, and families to support people with OCNDS and maybe soon, there will be targeted treatments available to help lessen symptoms. My hope is that more adults will be found, so that we can have a bigger picture of what life will look like going forward.

UK OCNDS Families Meet Up

Sat, 15 May 2021 02:37:00 GMT

Sunday, May 16th at 2pm and 7pm , Claire Whitehill, an OCNDS parent and Parent Advisory Board member, is hosting a UK family Zoom call for UK families to connect and share their journeys. Here are the Zoom links.
May 16th at 2pm Topic : UK OCNDS Family Meet Up (No. 1) (2pm) Time : May 16, 2021 02:00 PM London
Join Zoom Meeting https://us02web.zoom.us/j/88975107401?pwd=QkN1ZmJPK2RBMTZIazRnQVE4Z3N1QT09
Meeting ID : 889 7510 7401 Passcode : 090739 One tap mobile +16699006833,,88975107401#,,,,*090739# US (San Jose) +13462487799,,88975107401#,,,,*090739# US (Houston)
Dial by your location +1 669 900 6833 US (San Jose) +1 346 248 7799 US (Houston) +1 253 215 8782 US (Tacoma) +1 312 626 6799 US (Chicago) +1 929 205 6099 US (New York) +1 301 715 8592 US (Washington DC) Meeting ID: 889 7510 7401 Passcode: 090739 Find your local number: https://us02web.zoom.us/u/keakqwvi2v
May 16th 7pm Topic : UK OCNDS Family Meet Up (No. 2) 7pm Time : May 16, 2021 07:00 PM London
Join Zoom Meeting https://us02web.zoom.us/j/89659625758?pwd=MzVTZHk4K0d2RUJDYVJ4Yjk4Vk0xQT09
Meeting ID : 896 5962 5758 Passcode : 689985 One tap mobile +16699006833,,89659625758#,,,,*689985# US (San Jose) +12532158782,,89659625758#,,,,*689985# US (Tacoma)
Dial by your location +1 669 900 6833 US (San Jose) +1 253 215 8782 US (Tacoma) +1 346 248 7799 US (Houston) +1 929 205 6099 US (New York) +1 301 715 8592 US (Washington DC) +1 312 626 6799 US (Chicago) Meeting ID: 896 5962 5758 Passcode: 689985

Find your local number: https://us02web.zoom.us/u/knp8cNwA5

OCNDS Family Zoom Call on Early Intervention and Entering School Age

Sat, 15 May 2021 02:33:00 GMT

Saturday, May 15th at 12pm PST (Check the time conversion for time in your area: https://www.thetimezoneconverter.com/ )
Kristen Didzoleit, an OCNDS parent & inaugural Parent Advisory Board (PAB) member, is leading an OCNDS Family Zoom Call for early intervention to entering school age children on May 15th at 3pm EST. A few PAB parents with older OCNDS children will attend the call and share their experiences from this time in their children’s lives, giving us insight and the opportunity to learn from them. Let’s connect and talk about our main concerns for children in this age group, whether it be types of therapy, toileting or choosing the right school.
A little bit about Kristen: ‘I am a native Mainer who made my way to Austria during college to learn German and see more of the world. Along the way I met my husband, and we are now parents to three beautiful boys. Our middle son, Robin, was diagnosed with OCNDS in October 2019 shortly before he turned two. We were relieved to have an answer as to why he was developing as slowly as he was but were of course terrified about what this diagnosis meant for him, for us and our future. The CSNK2A1 Foundation has provided a wonderful avenue to find a community and helps support us in seeking answers to our long list of questions. I am honored to serve on the Parent Advisory Board, helping guide our Foundation into the future and building community in the German-speaking world.’
Topic : CSNK2A1/OCNDS Family Call on early intervention & entering school age Time : May 15, 2021 12:00 PM Pacific Time (US and Canada)
Zoom Details: Join Zoom Meeting https://us02web.zoom.us/j/84737072955?pwd=TkF3UDl4VXBiT3VyZFVPdlRqNTRnUT09
Meeting ID: 847 3707 2955 Passcode: 478566 One tap mobile +16699006833,,84737072955#,,,,*478566# US (San Jose) +13462487799,,84737072955#,,,,*478566# US (Houston)
Dial by your location +1 669 900 6833 US (San Jose) +1 346 248 7799 US (Houston) +1 253 215 8782 US (Tacoma) +1 301 715 8592 US (Washington DC) +1 312 626 6799 US (Chicago) +1 929 205 6099 US (New York) Meeting ID: 847 3707 2955 Passcode: 478566

Find your local number: https://us02web.zoom.us/u/kc8GwajvlN

Oral Health and Rare Disorders Webinar

Tue, 11 May 2021 02:47:00 GMT

Wednesday - May 26, 2021 - 2:00pm ET

Did you know that some rare disorders significantly impact oral health? Or that dentists can be important members of comprehensive care teams?

Please join NORD, National Organization for Rare Disorders , for this engaging webinar on dental conditions associated with rare disorders. We will hear perspectives from a patient with ectodermal dysplasia, a patient and advocate with pemphigus vulgaris and a dentist who treats rare oral disorders. This NORD webinar is suitable for patients, caregivers, advocates and the public. Click the link below to register.

Research Explained: Okur-Chung Neurodevelopmental Syndrome-linked CK2x variants have reduced kinase activity (2021)

Wed, 05 May 2021 09:31:00 GMT

Link to Paper : https://rdcu.be/cjYNS
Authors : Dominguez I, Cruz-Gamero JM, Corasolla V, Dacher N, Rangasamy S, Urbani A, Narayanan V, and Rebholz H

Research Explained By : Dr. Heike Rebholz

Research Explained Summary :

All patients diagnosed with OCNDS share one thing in common: they have one change in the gene that encodes for a protein called CK2. There are two genes that encode the genetic blueprint for CK2 in every cell, and in OCNDS one of them has such a change, also called mutation. We know that approximately 30 patients are reported in scientific journals, but that there are many more patients all over the world. Thus far, 16 different genetic changes, all in the same gene, have been described in the literature.

However, to date, nobody knew how this change actually affected CK2 itself, how and if it altered its ability to perform its function in every cell of our body.

We wanted to answer this question and, to achieve this, produced the unmutated and 16 different “mutated genes” which we then expressed in bacteria and also in cultured mammalian cells. We found a reduction of activity for all of the 16 CK2 mutations. CK2 is a kinase, that is a protein whose job is to alter other proteins in the cell by adding a phosphate group to them. Thus, our findings indicate that, in OCNDS, the mutation renders CK2 less able to perform such phosphorylation events.
It is encouraging, however, that this loss of activity does not have a large overall impact on the general health of cells used in our studies and that important proteins that are known to be modified by CK2 are not necessarily affected. What that means is that at least in some cases, the remaining healthy and “unmutated” version of CK2 can compensate for the one, “mutated” copy of CK2.
We further found that very few of the mutations also lead to changes in the localization of CK in the cells. While our findings are very basic and not directly applicable to the clinic, the question of CK2 activity had to first be addressed and will allow for further studies. The search now focuses on identifying the actual proteins that are affected by the mutation and are responsible for the disease-characteristic symptoms. This will bring us a big step closer to better understanding what happens in the condition and ultimately will identify proteins, which can be therapeutically targeted and lead to new treatments.
If you have any further questions, please contact Jennifer Sills at jennifer@csnk2a1foundation.org

Heike received her master’s degree in biochemistry from the Free University Berlin, Germany. She went on to do a PhD at University College London, Department of Biochemistry working on kinases and performing mass spectrometrical analysis of phosphosites.
For her post-doctoral work, she joined the Laboratory of Nobel laureate Dr. Paul Greengard at Rockefeller University New York where her interest in CK2 was ignited. She found that CK2 modulates certain neurotransmitter receptors in the brain which led to work in the fields of Parkinson’s disease and major depression as well as the generation of conditional knockout mice.
She continued this research while being a Research Assistant Professor at CUNY Medical School (Dept of Physiology, Pharmacology and Neuroscience), and since last year as Group leader of the Laboratory of Signaling mechanisms in neuorological disorders at the Institute de Psychiatrie et de Neurosciences de Paris, Universite de Paris.

Q&A with Cora Taylor, Ph.D. – Education and early intervention

Mon, 26 Apr 2021 02:53:00 GMT

You are invited to a Q&A with Cora Taylor, Ph.D. on Friday, May 14 from 12:00 p.m. – 1:00 p.m. E.T. . Taylor will answer your questions about education and early intervention, diagnosing autism, sleep, feeding, toileting and behavioral interventions for people with autism or other neurodevelopmental conditions.
You are invited to submit your questions ahead of time. Please email your questions to coordinator@simonssearchlight.org .
We will stream the Q&A live on both Zoom and Facebook. No registration is needed to join.
*To watch on Zoom: Click: https://simonsfoundation.zoom.us/j/96064159931?pwd=b1g4YkhRN0lneW9sNWxFbUxkbGQxdz09#success and enter passcode: 434934. *To watch on Facebook: Click: https://www.facebook.com/events/789772488592069/

Grateful for My Little Sister

Mon, 26 Apr 2021 02:50:00 GMT

By Victoria Howard

My sister was born on June 1st 2011 and was showing no signs of any delay up until 6 months of age when she had her first seizure. She got diagnosed with epilepsy before the age of 1 and then found out she had microcephaly. She can eat normal and claps a lot! She is a very happy child with an amazing temperament. My sister is very determined for what she wants and is very loving. She was seeking therapy in Toronto to be able to walk for around 5 years and she started walking right after the five year mark. She is still non verbal but is in school and they are working on it. The doctors thought she would never be able to walk but it was a miracle she did. The neural metabolic specialist did not know much about OCNDS and said we would have to do more research…so here I am trying to connect with more families. I am so happy I am not alone in this journey. It has been hard but I am so grateful for my little sister.

Stand with Us – International OCNDS Awareness Day

Mon, 05 Apr 2021 03:01:00 GMT

Today is International OCNDS Awareness Day . On April 5, 2016, lives were changed forever. On this day, 5 years ago, the first paper was published describing a brand-new syndrome called Okur-Chung Neurodevelopmental Syndrome, also known as OCNDS. Initially, there were 5 children identified in the paper with OCNDS. Soon these 5 children would be joined by others around the world.
Behind every rare disease diagnosis there is a family with big dreams and hopes. Someone once said that "Nothing about Rare Disease is simple - not the diagnosis, not the daily care, not the long term." OCNDS takes a toll on families financially, emotionally, spiritually and mentally.
Currently, when someone receives an OCNDS diagnosis they are told there is no treatment or cure. This is changing. OCNDS families are not only taking a seat at the table, providing real-life perspectives that are helping to shape the development of new treatments and therapies, they are the DRIVING FORCE behind OCNDS rare disease research. To date, with your generosity and support, we have committed over $400,000 to life-changing OCNDS research.
Today , we ask you to Stand with Us on this journey.
Today , Stand With Us by watching this video about individuals living with OCNDS

Today , Stand With Us by using your voice and sharing this video with your friends and family.

Today , Stand With Us by donating to OCNDS research.
Thank you for supporting awareness with ACTION.

Stand with My Family – Stand with Us

Mon, 05 Apr 2021 02:57:00 GMT

“Most parents thankfully don’t know what it is like staying up all night to make sure your child is still breathing while monitoring their heart rate. Or even having to make that choice to even give rescue medications to stop a medical event. The ever-present parental terror that exists on a daily basis.”

By Rhiannon Cramer, Inaugural PAB member
April 5th is International OCNDS awareness day . This was the date in 2016 where a name was given to the syndrome that affected our daughter and our lives. All of those memories and feelings came flooding back to me this last Friday when I received that dreaded phone call from the school nurse that our daughter was not feeling well and having some trouble.
Now it wasn’t anything crazy sounding on the phone, a nonevent really for a typical child. But with our daughter, something simple sounding, can have big consequential results. I finished up quick what I was doing and gathered my thoughts and fought the panic that was starting to well up inside. As I drove over, I realized why I could feel myself starting to get worked up inside, even though the issues today were hopefully really nothing major.
See, most parents don’t know the fear and terror of being handed a limp child when you arrive. Or being handed a child whose heart rate is way too fast, or whose extremities are ice cold as the body’s way of trying to save itself, or a child who has lost the ability to move extremities, or extremities that are locked in place, or are shaking uncontrollably. They do not know the look your child can have, that look of terror where they know nothing is going well, but they are powerless against it pleading for help. If she is even with it enough to have that look, and not the even more dreaded emptiness in the eyes when it is really bad. Most parents thankfully don’t know what it is like staying up all night to make sure your child is still breathing while monitoring their heart rate. Or even having to make that choice to even give rescue medications to stop a medical event. The ever-present parental terror that exists on a daily basis. Not knowing if today is going to be the day something catastrophic happens. Knowing that even when it is not catastrophic that day per say, but that every even a small event leaves behind a little more damage. So, living in a pseudo space of denial and enjoying the days that do exist in relative freedom. While denying that part and side of you that wants to worry and stress about it daily.
When I arrived at the school and she came out to me under her own power, I wanted to cry tears of joy: her walking towards me means she is at least halfway ok. Then she raised her arms up into my arms and started sobbing uncontrollably and thanking me for getting her. Now this child LOVES school and we are lucky that she is surrounded by the most caring team one could hope for. I know that while she is at school, she is safe and under the best care, and loves them all!
We get home after a quick drive and get settled into the house. I get her to finally eat some food and she starts to perk up. She is sad that she missed library at school, and wondering when her sibling will be home so she can give them hugs. She wants snuggles while I call into the Dr’s. She falls asleep curled up next to me. A little while later she pops out of a sound sleep to look at me and say “I love you so much Mom”, and then falls back asleep. Tears are in my eyes even now while typing this out. This amazing child who has the largest capacity to love everyone with her whole heart and being. I will fight night and day for her and all of those with OCNDS. They may all have their own struggles, or the same struggles. This is why it is so imperative that we show our support, raise awareness, and raise further funding for research. We need to find a cure, we need to help find their voice, and we all need to Stand With Us!

Please join us for International OCNDS Awareness day on April 5th! Please take a few minutes to like the CSNK2A1 Foundation Facebook page to keep up with everything. Share the posts anytime, but especially on April 5th! If you really wanted to show support, you can take a picture in green and or blue and post it in support on April 5th! Stand With Us!

Q2 Scientific Roundtable April 13, 2021

Fri, 02 Apr 2021 03:30:00 GMT

Quarterly Scientific Roundtable: Path Towards Treatment

MEETING GOALS & GUIDELINES

CSNK2A1 Foundation hosts a quarterly Scientific Roundtable to bring together researchers, clinicians and innovators to exchange ideas and accelerate the path towards treatment for OCNDS. For information or inquiries about our Quarterly Scientific Roundtable, please email at research@csnk2a1foundation.org .
THANK YOU TO OUR RESEARCHERS WHO ARE ALREADY SUCCESSFULLY COLLABORATING. WE WILL CONTINUE TO WORK AT THE FOUNDATION TO PROVIDE SUPPORT AND STRUCTURE FOR CONTINUED COLLABORATION.
OUR COMMUNITY IS INSPIRED BY AND THANKFUL FOR YOUR WORK.
The key to successful rare disease research that leads to actionable therapeutics is Collaboration , Data Sharing and Diverse Thinking .
There are no known treatments for OCNDS but there is hope. Science is catching up. With researchers, clinicians and innovators like yourselves collaborating and working together we have the chance to make a meaningful change in the lives of those with OCNDS.
We believe collaboration begins with data sharing .
We have limited resources and our children have limited time; data sharing discourages duplication of effort in data collection .
In order to find a treatment or a cure we need to look at OCNDS from varying perspectives, ideas, backgrounds and specialties . Data sharing also promotes diverse thinking .

No one wants to be scooped . Unless otherwise specified, all information shared within the quarterly meeting is considered confidential .

OCNDS International Awareness Day April 5, 2021

Fri, 02 Apr 2021 03:21:00 GMT

Why did we choose April 5th for our annual awareness day? On April 5, 2016, 5 years ago, the first paper was published describing a brand new syndrome called Okur-Chung Neurodevelopmental Syndrome, also known as OCNDS. Initially, there were 5 children identified in the paper with OCNDS. Families searching for years finally had an answer, a diagnosis for the symptoms that plagued their loved one. Today, more than 160 individuals have been diagnosed with OCNDS.
Currently, when someone receives an OCNDS diagnosis they are told there is no treatment or cure. This is changing. OCNDS families are not only taking a seat at the table, providing real-life perspectives that are helping to shape the development of new treatments and therapies, they are the DRIVING FORCE behind OCNDS rare disease research.
Someone once said that “Nothing about Rare Disease is simple – not the diagnosis, not the daily care, not the long term.” On April 5th, we ask you to Stand with Us on this journey. To Stand with Us, wear green or blue and tag us in your photos.

Simons Searchlight research registration Zoom party April 17, 2021

Thu, 01 Apr 2021 03:26:00 GMT

Most, if not all, doctors have never heard of OCNDS and have no idea how to provide care for those living with OCNDS. We can change this! OCNDS families can make a difference today by signing up for the CSNK2A1 Simons Searchlight Natural History Study!

Are you interested in participating and would like to speak with an OCNDS parent on the Parent Advisory Board who is participating in the natural history study?

Do you want to sign up but it feels overwhelming?

You don’t need to do it alone. JOIN US on April 17, 2021 at 3pm EST for a Zoom registration party where members of the Parent Advisory Board and a Simons Searchlight representative will provide support in the registration process and answer your questions.

After registering, you will receive a confirmation email containing information about joining the meeting.
We are stronger together!

Read about 3 different OCNDS families and why they are choosing to participate in the Simons Searchlight Study:
Jules’ Story
Kirsty’s Story

Harper’s Story

Newsletter Q1 March 31, 2021

Wed, 31 Mar 2021 03:56:00 GMT

Join us on social media April 5th for International OCNDS Awareness Day.

Currently, when someone receives an OCNDS diagnosis they are told there is no treatment or cure. This is changing. OCNDS families are not only taking a seat at the table, providing real-life perspectives that are helping to shape the development of new treatments and therapies, they are the DRIVING FORCE behind OCNDS rare disease research.

Someone once said that “Nothing about Rare Disease is simple – not the diagnosis, not the daily care, not the long term.” On April 5th, we ask you to Stand with Us on this journey. To Stand with Us, wear green or blue and tag us in your photos.

Final Total of Giving Tuesday

On December 1, 2020, the world was united by Giving Tuesday, a global day of giving. We launched our Gift of Hope Campaign for Giving Tuesday . Thank you to our donors and supporters, our Gift of Hope Campaign for Giving Tuesday was a huge success. We raised a total of $60,025.59 from Facebook, Instagram, online donations and mail-in donations. Facebook matched $226 in donations for our Gift of Hope fundraiser. Joan and Charlie Davis generously matched all donations made to the foundation for Giving Tuesday for a grand total of $120,051.18.

PAB & Needs Assessment Survey

We are excited to introduce our inaugural Parent Advisory Board (“PAB”). The PAB consists of 10 passionate parents from around the globe, representing the United Kingdom, the United States, Australia, Canada, and Austria.

Our Parent Advisory Board advises our Board of Directors, brainstorms ideas, and shares insights from the parent perspective related to OCNDS. Their Commitment: 1 year commitment with one year option to extend, Meeting Virtual Calls – 1 hour per month and 5 hours a month minimum for PAB projects. This group is extremely motivated and already completed their first project – an online Needs Assessment Survey for our community that will shape research and the direction of our foundation for years to come.

Rare Disease Day

Rare Disease Day takes place on the last day of February each year . This year it fell on Sunday, February 28, 2021. The main objective of the campaign is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. The zebra is the official symbol of rare diseases in the United States and is noted for its black and white stripes, which are central to its uniqueness. Everyone has his/her own stripes, those characteristics that make each individual distinct. While each of the more than 7,000 rare diseases are unique, there are many commonalities that unite patients, families, caregivers and supporters. On 2/28, we united with over 300 million people worldwide living with a rare disease to work towards more equitable access to diagnosis, treatment, care and social opportunity.

A few families in our community shared their thoughts on what it means to be rare on Rare Disease Day. Read more below.
REFLECTION OF OCNDS PARENT ON RARE DISEASE DAY 2021 by Claire Whitehill
NOTRE PETIT SOLEIL by Aurélie
I RUFF SOMEONE RARE by Melanie Kretas / artwork by Ava
DAYS by Rhiannon Cramer
LOVE NEEDS NO WORDS by Amber Reynolds

Rare Disease Day Celebrations

On February 28, 2021, we hosted a Rare Disease Day 2021 Event with The Color-Coded Chef. Terri Jordan, founder of The Color-Coded Chef guided us through her amazing adapted Chocolate Chip Cookie recipe. Terri developed The Color-Coded Chef Kit which promotes life skills for all ages & abilities through the power of cooking. This unique system emphasizes visual communication. The carefully designed interface removes many of the traditional barriers of cooking. From the UK to Hawaii, families joined in the fun! A portion of the proceeds of the sale of the Color-Coded Chef cooking kit will be donated to CSNK2A1 Foundation if you use the code: OCNDS or CSNK2A1 Foundation.

Our PAB member, Amber Reynolds, created a new product line for her Rare Disease Day fundraiser “Love Needs No Words!” She raised over $1600 from her t-shirts sales. The “Love Needs No Words” product line is now available in our items shop and all the net proceeds are donated to OCNDS research. We loved seeing people all over the world wearing their shirts on Rare Disease Day.

Zoom Family Calls

The isolation and loneliness that come with having a child with a rare disease are suffocating. It is indeed rare to feel like someone else truly understands what it is like to care for someone who is rare. Finding a community can make all the difference in a rare disease journey. During these unprecedented times of COVID, it is even more important to stay connected. To keep our families connected, our PAB hosts quarterly Zoom calls to discuss a variety of topics ranging from epilepsy management to puberty to transitioning into adulthood. These calls serve as a lifeline for many families struggling with basic daily activities. Look out for our next call April 24th where PAB member Michelle Proctor-Simms will host a OCNDS family discussion about epilepsy and management.

February Family Zoom Call

French Family Zoom Call

Quarterly Science Roundtable

CSNK2A1 Foundation hosts a quarterly Scientific Roundtable to bring together researchers, clinicians and innovators to exchange ideas and accelerate the path towards treatment for OCNDS.

In February, we launched our Quarterly Scientific Roundtable. Our Scientific Advisory Board and 2 board members hosted 5 institutions and 7 foundation funded researchers to hear research updates and to discuss next steps. These roundtables play a vital role in setting our OCNDS research agenda. We are looking forward to our next roundtable on April 13th.

For information or inquiries about our Quarterly Scientific Roundtable, please email research@csnk2a1foundation.org .

Parent Education Webinar Series

In late 2020, we launched our Parent Education Webinar Series. As parents and patients try to navigate a new diagnosis, they can be overwhelmed with information. We want to provide informational videos to help parents and patients navigate their rare diagnosis and inform them about different types of interventions available. We are excited for our next webinar on April 1st about Alternative Communication approaches and strategies . We anticipate that this will be a well-attended event since inability to speak or severe speech delay is one of the hallmark symptoms of OCNDS. Caregivers and parents are always looking for ways to ease the frustration of those living with OCNDS and increase their ability to communicate their needs, wants, hopes and dreams.

#MondayMilestones Spotlight

Join us each Monday on social media when we celebrate #MilestoneMondays. We will highlight an individual living with OCNDS and celebrate a milestone that they have achieved. Those living with OCNDS have many daily challenges. Some challenges are as basic as swallowing, toileting, dressing themselves, putting on a seatbelt, and making friends. Individuals with OCNDS have to work harder than the average person to reach the smallest of milestones.

Recently, we celebrated Harper. Her family shared with us:

“Harper was diagnosed with OCNDS at 5 years old. She didn’t crawl until 14 months. She has always been delayed in every milestone. She works so hard to do simple tasks her peers can easily do without thinking about it. She reminds us to never give up! We celebrate every milestone because it is a reminder of how hard she has worked to get here. COVID-19 restrictions have given us more time to work on skills. And for the first time ever, Harper learned to ride a bike without training wheels at 8 years old. She loves riding her bike, and now does tricks, riding with one hand going up and down ramps and over curbs.”

Did You Know?

Did you know we have a library of OCNDS related videos ? When someone is diagnosed with OCNDS, most, if not all, health professionals have never heard of OCNDS. While triaging the day-to-day symptoms of OCNDS, patients and caregivers have the burden of educating themselves and health care providers about OCNDS. We are the first organization of its kind educating parents, caregivers, patients and health care professionals about OCNDS. We are continually creating videos to educate individuals about OCNDS. Go to our website where you will find a video library of the following types of videos: informational, research updates, awareness and conference. Watch and share with families, friends, providers and healthcare professionals. The more we know about OCNDS, the better advocates we can be for our loved one living with OCNDS. Join us every Wednesday on our social media channels for our Did You Know series.

Number of Patients Found in Q1

In the first quarter of 2021, we found 10 new families spanning the globe: Malaysia, Belgium, United States, Germany and Italy.

Research Opportunity – Simons Searchlight OCNDS Natural History Study

Have you ever wondered:

“What happens in adulthood for those living with OCNDS?” “How many individuals with OCNDS have autism or autism behavior traits?” “What is the average age that someone with OCNDS speaks?” “How many individuals with OCNDS have epilepsy?” “What do they do to manage their epilepsy?”

These are great questions which can’t be answered unless individuals and their families participate in the OCNDS/CSNK2A1 Natural History Study. Knowledge is power! OCNDS families can make a difference today by signing up for the CSNK2A1 Simons Searchlight Natural History Study! On Sunday, March 14, 2021, we had a Question & Answer session with CSNK2A1 Foundation and Simons Searchlight about our Natural History Study. Here is the video from the Q&A . To learn more visit www.simonssearchlight.org

Are you interested in participating and would like to speak with an OCNDS parent on the Parent Advisory Board who is participating in the natural history study? If so, email us at info@csnk2a1foundation.org and we will facilitate the call.

If you want to sign up, but it feels overwhelming, join us on April 17th for a Zoom registration party where members of the Parent Advisory Board and a Simons Searchlight representative will provide support in the registration process.

Provider and Doctor Database

Do you love your provider? If so, we are building a list of doctors/providers for our OCNDS community. Please share their information with us at info@csnk2a1foundation.org so we can build our database.

How to get involved?

Have special skills or talents and would like to donate your time? There are many volunteer opportunities available at the Foundation. Email us at volunteer@csnk2a1foundation.org to get involved.

With knowledge comes acceptance. Help us bring awareness to OCNDS by sharing our content across social media. One easy way to get involved is to “like” our Facebook page and ask your friends to “like” our page. Follow us on Twitter , Instagram , and Linkedin .

Friends, family and providers can join our closed Facebook group to share ideas and learn more about OCNDS. Join now .

Coming Next

April 1st: Alternative Communication 101 Parent Education Webinar Events Details & Registration
April 5th: International OCNDS Awareness Day (Wear Green or Blue & Stand With Us)
April 13th: Q2 Scientific Roundtable
April 15th: Australia/New Zealand Family Zoom Meet Up
April 17th: Simons Searchlight research registration Zoom party, details to follow
April 24th: Quarterly Family Zoom Call – Topic: Epilepsy and Management Jul/Aug: Save the Date coming – Simons Searchlight Virtual CSNK2A1 Family Conference

Parent Education Series – Equine Therapy 101

Tue, 09 Mar 2021 04:09:00 GMT

Thank you so much for registering for the Equine Therapy 101 Webinar.

Unfortunately, our speaker needs to POSTPONE this webinar because her mother is in the hospital with a broken hip. We will notify you of the new date and time as soon as we know.

Thank you! Sorry for any inconvenience!

~~Join us on Saturday,~~ ~~March 13th at 12:00pm CENTRAL~~ as we speak with Lulu Bogolin, Executive Director of the Equine-Assisted Therapy, Inc., about the benefits of Equine Therapy. This webinar will be recorded.
Register in advance for this webinar here .
After registering, you will receive a confirmation email containing information about joining the webinar.
A little about Equine-Assisted Therapy, Inc. Their mission is to provide horsemanship experiences to those with mental, physical or psychological disabilities in order to enhance the quality and productivity of their lives.
A little about Equine-Assisted Therapy, Inc. in their own words: Equine-Assisted Therapy Inc. is a 51(c)3 non-profit and was started in 2004 by Ginni Hartke with a love of horses and the passion to help others. In 2019 Ginni retired naming Lulu Bogolin the new Executive Director. Currently, we have 2 locations in St. Louis County Missouri, 21 therapy horses and serve 135 riders a week plus local groups. We collaborate with local school districts, The Alzheimer’s Assoc., St Louis Foster Care Coalition, Cancer Cares, Autism Services Inc and many others. We currently utilize 150 volunteers a week and have 12 Certified Equine Therapy Instructors, most of whom are duly certified. Many also have degrees in Equine Therapy, Early Childhood Education, PT, and Speech Therapy.
Our main facility in Wildwood, Missouri operates year round and our Town and Country Missouri facility operates spring through fall. Our centers are recognized by PATH Intl., SpiritHorse Intl., and Equine Connections.

We would love to answer any questions you may have about Equine Therapy. Our website is eatherapy.org and our phone number is (314) 971-0605.

Learn More About OCNDS – Simons Searchlight Q&A

Tue, 09 Mar 2021 04:03:00 GMT

Join us on Sunday, March 14th at 12:00pm EASTERN to speak to Jennifer Tjernagel, the Simons Searchlight Senior Project Manager, about the CSNK2A1/OCNDS research opportunity. This Q and A will be recorded.
Register in advance for this Q and A here .
After registering, you will receive a confirmation email containing information about joining the webinar.
Simons Searchlight is a research project that aims to study rare gene changes that are associated with autism and other neurodevelopmental disorders such as Okur-Chung Neurodevelopmental Syndrome (OCNDS). Currently, 50 OCNDS families have registered with Simons Searchlight. Simons Searchlight collects family, medical, developmental and behavioral information through online surveys and phone interviews with families and individuals. Participants can:

Learn about their family member’s diagnosis
Partner with some of the best minds in science
Get updates on the latest research findings
Connect with others who share their diagnosis
Contribute to advancements that will change the future for families with these gene changes

“Simons Searchlight is a community of incredibly dedicated researchers and families who work together to improve the lives of those affected by these rare conditions,” says Dr. Wendy Chung , director of clinical research at SFARI, Principal Investigator of Simons Searchlight and SPARK, and the Kennedy Family Professor of Pediatrics in Medicine, Columbia University.

Parent Education Series – Alternative Communication 101

Tue, 09 Mar 2021 04:00:00 GMT

Join us on Thursday, April 1st at 4pm Central for our Parent Education Webinar Series featuring AAC Specialists from Speak for Yourself, LLC to learn more about Alternative Communication 101 ! This will be recorded.
Register in advance for this webinar here .
After registering, you will receive a confirmation email containing information about joining the webinar.

The use of Augmentative-Alternative Communication (AAC) provides a “voice” and a means of communication to those who cannot rely on their natural speech to communicate. When children and adults cannot use speech to communicate effectively in all situations, there are options. Learn more at www.speak-yourself.com

A Complicated Relationship

Mon, 01 Mar 2021 04:16:00 GMT

by Keri Ninness
Today is #rarediseaseday2021. I have a complicated relationship with this day. There are things a parent of a child with a rare disease is *supposed* to say. We should say we are grateful (we are) and that our child is hard working, resilient, persevering (dear heavens is he). We should say we wouldn’t change a thing. Here’s where I trip up.
On this side of heaven I am not okay watching the toll this takes on Thomas and our family. I am terrible at “rejoicing in suffering” as Paul challenges us. While I can rattle off 50 ways #okurchung is growing and sanctifying my family, the constant guessing game of how to treat the newest medical issue or latest emotional ramifications is daunting. Staying ahead of medical, behavioral, academic needs is a heavy weight. There is no cruise control. Today please, please honor my boy with your prayers for all children with a rare disease. There is no straight line for helping these babies, if there is even a line at all. And in a special way pray for their caregivers. We have it so very good in our little corner but the toll on caregivers is immense. Like in everything, there is much suffering in the joy.

We won’t talk about rare disease day because it’s also the first spring training game for Thomas’s beloved Atlanta Braves so he will allow zero other topics of conversation. There may be a slight exception for reminding EVERYONE how he had five (two) hits and his team got their first W. I don’t love rare disease, but I love the hell out of my favorite baseball player who happens to have one �55357;�56473;

Days by Rhiannon Cramer

Sat, 27 Feb 2021 04:13:00 GMT

by Rhiannon Cramer

Days

The sun rises up, the sun lowers down The child does not sleep The child breaths and that is our need
The sun rises up again
The physical therapist comes again The occupational therapist comes again The doctor appointments to be made again
The sun is at midday
The feeding therapist comes again The vision therapist comes again The speech therapist comes again
The sun is now near the end
The tear filled cuddle fit in The work fit in The chores fit in
The sun lowers down once again
But where was the day? But where was the fun? But where was the freedom for the child?
The child does not know otherwise
These are the days full of therapists that keep the child going These are the days full of doctors that keep the child going These are the days full of phone calls that keep the child going
These days, allow for those future days
Those future days are what we work for Those future days are for the fun Those future days are freedom for the child

The future days are soon to come

I Ruff Someone Rare

Fri, 26 Feb 2021 04:11:00 GMT

By Melanie Kretas / artwork by Ava
Rare Disease Day Reflection
I �55357;�56473;RUFF�55357;�56474;someone rare!

Rare comes in all different shapes and sizes, same with best friends! Ava loves the company of her two best friends, Hero and Ranger�55357;�56382;She enjoys walking them, playing with them and feeding them. They make her laugh every single day! They have taught her to be patient, they have taught her a different meaning of love and how to navigate her anxiety. Luckily with these two by her side, she can conquer anything�55357;�56473;�55357;�56474;

Notre petit soleil

Thu, 25 Feb 2021 04:27:00 GMT

by Aurélie
Aujourd’hui est une journée de sensibilisation aux maladies génétiques rares.. Nous ne nous étions jusque là jamais réellement intéressés au sujet.. Nous ne savions pas à l’arrivée d Helio que nous vivrions un véritable combat avec et pour lui.. Un combat quotidien qui a démarré dès ses 9 mois avec des heures, des jours et des mois de recherches, d’acharnement pour trouver de l’aide, comprendre, avancer, se battre contre les préjugés.
On restera 5 ans avec une errance de diagnostic..Et puis, à force de persévérance et de rencontres, nous avons enfin pu poser un nom, avoir une explication sur cette singularité que porte notre bonhomme.
Helio fait partie de cette rare, tres rare famille OCNDS.. On découvre donc depuis 1 an toute une communauté qui nous permet d’échanger sur ce syndrome génétique.. un réconfort auprès de personnes totalement étrangères mais aussi très unies par cette épreuve commune.
Vivre avec helio, un enfant extraordinaire, est un combat permanent, parsemé d embûches mais aussi tellement enrichissant qui nous apprend à nous surpasser..Helio est un véritable rayon de soleil, toujours souriant, combatif, volontaire, et rempli d amour pour les autres.

Nous apprenons à tatons, avec le bonheur de le voir grandir et se developper, et l’espoir de lui permettre de grandir et de trouver sa place dans le monde.

Our little sun
Today is a day of awareness of rare genetic diseases. We had never really been interested in the subject. We did not know when Helio arrived that we would be fighting with and for him. A daily struggle that began as early as 9 months with hours, days and months of research, hard work to find help, understand, advance, fight against prejudice.
We have been wandering for five years for a diagnosis. And then, through perseverance and encounters, we were finally able to put down a name, to have an explanation of this singularity that our little man carries. Helio is part of this rare, very rare OCNDS family. It has been a year since we’ve discovered a whole community that allows us to exchange on this genetic syndrome. comfort to people who are totally foreign but also very united by this common ordeal.
Living with Helio, an extraordinary child, is a constant struggle, full of pitfalls but also so rewarding that teaches us to surpass ourselves. Helio is a true ray of sunshine, always smiling, combative, willing, and filled with love for others. We learn to grope, with the happiness of seeing him grow and develop, and the hope to allow him to grow and find his place in the world.
Aurélie

Love Needs No Words

Fri, 19 Feb 2021 04:19:00 GMT

By Amber Reynolds
As we started to learn more and more about Harper’s diagnosis, Okur-Chung Neurodevelopmental Syndrome, we started to understand that our precious nonverbal daughter, Harper, might never learn to speak. One of my saddest moments as a mom was thinking I may never hear my daughter tell me she loves me. Harper has been in speech therapy since she was 14 months old, and we work constantly on her speech and trying to articulate words. As much as Harper desires to speak, her brain cannot transmit the words she would like to say. As the years go on, we have now depended on technology.
Harper learns language in part by connecting objects and images with their names and other related words, through an app called Proloquo2Go. Harper wears an iPhone around her neck and uses her “voice” (that’s what we call it,) to communicate with others. As the years have gone on, she has learned to speak sentences, and if someone asks her what her “voice” is, she says “I point to symbols to communicate.”

Throughout the last 9 years, even though Harper has never been able to communicate that she loves me, she has always shown her love through her laughter, hugs, kisses, and the joy that she radiates through her smile. Harper truly embodies that LOVE NEEDS NO WORDS. And now through Harper learning to navigate using her “voice” she can now say “I Love You” to me. The feeling I felt when she expressed her love to me using her “voice,” is the same feeling it would be as if spoke those words to me . A moment I will never take for granted and will cherish forever. It truly is incredible how I can see, feel, and know the love Harper has for me, without her ever speaking a word, because LOVE truly NEEDS NO WORDS.

Reflection of OCNDS parent on Rare Disease Day 2021

Tue, 16 Feb 2021 04:25:00 GMT

By: Claire Whitehill

“The future is a mystery, but as long as she is happy and healthy that is good enough.”

Early days
Kirsty was born 7 weeks early due to Strep B and spent the first 3 weeks in the Special Care Baby Unit with an NG tube. She went back into hospital a couple of weeks after she came home because she had Bronchiolitis and was holding her breath and going blue. She was in the high dependency unit on C-PAP. When she failed to thrive, we thought it was just because of her bumpy start and were assured by family and health care workers that she would catch up. She did not gain weight from breastfeeding and had to have supplementary bottle feeds. She did not sit, crawl or interact at the ages our other 3 children hit these milestones, so we kept asking the Health Visitor and were referred to a Paediatrician who gave Kirsty the Global Development Delay label.
Not having a diagnosis made every claim for assistance a struggle. Kirsty has an Education and Health Care Plan, which we were rejected for on first application and had to appeal. Kirsty receives Disability Living Allowance and we have recently acquired a blue badge for free parking.

We waited 8 years for a diagnosis
She was sitting at 1 year, walking at 2 and began to speak at around 3. She had appointments with so many different specialists. The Physio taught her how to push herself up from lying to sitting. The OT gave us exercises for the Hypermobility and gross and fine motor skills development. The Dietician prescribed high calorie milk. The Ophthalmologist said she had Astigmatism and prescribed glasses. The hearing tests were always failed due to congestion in her ears.
I spent hours googling her symptoms and diagnosed her myself many times incorrectly, I thought we would never get an answer and I would always wonder if I had done something wrong to cause the delays. All of the baseline and microarray genetic tests came back clear, so we were referred to the Geneticist at Oxford who signed us up for the 100,000 Genomes Project. Our blood was taken in 2016 and three years later we received the results, a diagnosis of Okur-Chung Neuroevelopmental Syndrome which is caused by a change to the CSNK2A1 gene.
OCNDS
Kirsty was one of only 60 children to have been diagnosed although now that number has doubled, and it is predicted that there could be many thousands of other undiagnosed patients across the world. As OCNDS is an ultra-rare condition, there was very little literature or information available about it. Luckily, a Foundation had been established by one of the parents in the US, so we finally had a community to be part of and felt like we belonged.
Kirsty’s main symptoms are short stature and low weight, speech delay, learning disabilities, Microcephaly and Autism. She also has problems with toileting and sleeping. She is 9 but is in 6 year-old clothes and learning at the level of year 1. She still uses dummies to comfort herself and can balance 4 on her face at once! People living with OCNDS have a varying range of symptoms and there is a wide spectrum of severity. Lots of the other people living with OCNDS have epilepsy and are non-verbal. As far as we know OCNDS does not limit life expectancy and there are adults living with OCNDS, some of whom have jobs and live independently. There is a 50% chance of passing the gene on if people with OCNDS have children of their own. The positive traits of OCNDS are that the children are happy, loving, determined, resilient and popular. Kirsty loves swings, trampolines, cuddles, babies, Barbies, Lego, Playmobile and Netflix!

Getting involved
We wanted to be as involved as possible with the CSNK2A1 Foundation, so I applied to be on the Parent Advisory Board. We have just finalised out first project for a needs assessment survey and will be launching this in February. Other projects we are working on are a brochure for families and health care workers / teachers about OCNDS and a campaign to encourage people to sign up to Simons Searchlight, the natural history research programme for OCNDS and other syndromes linked to Autism and developmental delay. Drs Okur and Chung from Columbia University who discovered the genetic change in 2016 are very much involved with the work of the Foundation: sitting on the Scientific Advisory Board, and joining family zoom calls and conferences.
The Future
Kirsty is currently attending a mainstream primary school and whilst she is progressing at her own pace, learning to read, write and add numbers, the gap with her peers is widening and we feel it may be time for Kirsty to move into a school which can offer her a more specialised provision. We expect that Kirsty will probably live at home with us forever and be an adult with learning disabilities. The future is a mystery, but as long as she is happy and healthy that is good enough.

*Story originally posted at www.raredisease.org.uk

Rare Disease Day 2021 Cooking Class with The Color-Coded Chef

Tue, 02 Feb 2021 04:33:00 GMT

“Baking is done out of love, to share with family and friends, to see them smile.”

JOIN US! Let’s make chocolate chip cookies together! CSNK2A1 Foundation is proud to host a Rare Disease Day 2021 Event. Please REGISTER for a FREE online cooking class with The Color-Coded Chef on Sunday, February 28th, 10am Central . This will be fun for the entire family.
Terri Jordan, founder of The Color-Coded Chef and OCNDS parent, will guide us through her recipe as together we will make her amazing adapted Chocolate Chip Cookie recipe . Terri developed The Color-Coded Chef Kit which promotes life skills for all ages & abilities through the power of cooking. This unique system emphasizes visual communication. The carefully designed interface removes many of the traditional barriers of cooking.
Please print out the recipe and have your ingredients readily available. The recipe also gives substitution recommendations for how to make these delicious cookies for those with allergies.
WHERE: Via Zoom Webinar WHEN: Sunday, February 28, 2021 TIME: 10am Central NEED: Ingredients, see recipe REGISTER IN ADVANCE: https://us02web.zoom.us/webinar/register/WN_UJCFy0LdTKqIprkV0qdWcA
After registering, you will receive a confirmation email containing information about joining the webinar.
At the end of the call, everyone will be invited to show their cookies.
Each participant will be entered into a drawing to receive The Color-Coded Chef measuring cups and spoons set.

If you have any questions, please reach out to Jennifer Sills at jennifer@csnk2a1foundation.org

Rare Disease Day 2021 Save the Date

Wed, 27 Jan 2021 04:42:00 GMT

Please join us and participate in Rare Disease Day 2021. No action is too small.

What is Rare Disease Day?
Rare Disease Day is the official international awareness-raising campaign for rare diseases. Rare Disease Day takes place on the last day of February each year . This year it is Sunday, February 28th .

What is the purpose of Rare Disease Day?
The main objective of the campaign is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

Why bring awareness to Rare Disease?
There are over 300 million people worldwide living with a rare disease. Together across borders, and across the 6000+ rare diseases we work towards more equitable access to diagnosis, treatment, care and social opportunity .

The key message for Rare Disease Day 2021 is:
Rare is MANY worldwide. Rare is STRONG every day. Rare is PROUD everywhere.

What is the Foundation doing this year for Rare Disease Day?
This year we are launching an online campaign (due to COVID restrictions we are not having an in person event). We will feature stories from our families. We will use infographics to bring awareness to Rare Disease and OCNDS using social media, and feature quote graphics from our families that relate to the Rare Disease Day 2021 Campaign. On Sunday, February 28th, we also are hosting an interactive live Zoom event for families from around the world. Details to follow.

How can you participate? There are endless ways to participate. Here are a few ideas:

1. Write a brief story or a poem about what it means to raise a rare child or what it means to have someone rare in your life. Please send before rare disease day to info@csnk2a1foundation.org

For examples of stories written by OCNDS families on Rare Disease Day:

2. You could create a piece of art or a short film that represents the themes of Rare Disease Day:
Examples are: https://www.youtube.com/watch?v=JV6e0Pp2b0E&feature=emb_title https://www.csnk2a1foundation.org/art-brings-community-together-for-rare-disease-day/

3. Share a photo with painted hands on social media using #RareDiseaseDay and tag @rarediseaseday #csnk2a1 #ocnds @csnk2a1

4. Share a photo with your foundation shirt, bag or mug on social media using #RareDiseaseDay and tag @rarediseaseday #csnk2a1 #ocnds @csnk2a1 or get creative and make something that represents rare disease day to you (cookies in the shape of a hand decorated different colors etc)

5. Change your Facebook or twitter profile and add Rare Disease Day logo to your profile. To add a frame to your profile picture on Facebook:

Go to www.facebook.com/profilepicframes
Select a frame from the menu or search for the frame you want to use (type in Rare Disease Day) The Rare Disease Day 2021 profile frames will appear
Click Use as Profile Picture to save

6. Starting February 21st, the Foundation will begin a rare disease day awareness campaign that will last the entire week.

Please share and like the foundation’s content on rare disease day on your social media accounts including Facebook, Twitter, Instagram and Linkedin.

Thank you for helping turn Hope Into Action!

2020 Year in Review

Wed, 30 Dec 2020 04:52:00 GMT

We are all eager to leave 2020 behind; however, as our third year comes to an end, we are filled with tremendous hope! Our small but mighty organization surpassed our initial 3-year objectives. In our first three years, we:

Strengthened communication, offered encouragement, and provided resources to OCNDS families via our website and social media pages;
Developed reagents and made them widely available to researchers which will make it easier for researchers to develop treatments for OCNDS and gain a better understanding of OCNDS;
Supported research that will help us begin to understand the biochemistry of OCNDS;
Maintained and grew a patient registry program;
Facilitated and planned an in-person family meeting to foster hope, community, collaboration, and a further understanding of OCNDS; and
Raised the profile of this ultra-rare disorder through media attention, the creation of a public awareness campaign, and the formation of a strong advocacy group.

We have extensive and lofty objectives for the next three years which will only be achieved by the entire OCNDS community working together. Our research goals are simple – to advance the understanding of the disease mechanisms and to develop therapeutic treatments. Fundraising is vital to our success and our ability to meet our research objectives. Without our supporters, donors, and OCNDS families, HOPE wouldn’t be possible. Thank you!

Research Update
There is no treatment or cure for Okur-Chung Neurodevelopmental Syndrome (OCNDS) YET. Although COVID-19 closures affected almost every aspect of life, our researchers never stopped working towards answers and a cure. Currently, a core group of scientists, who have been working on the CSNK2A1 gene since before it was associated with OCNDS, are conducting functional studies for selected CSNK2A1 variants.

CSNK2A1 is like a ‘switch’ for many other proteins, including genes associated with neural function. Our researchers are looking at OCNDS from different angles:

structural biology
biochemistry
cellular biology
neural function,
behavior in mouse models,
and embryonic development in animal models like zebrafish and Xenopus (frogs).

In 2020, we awarded four new research grants that will help us to understand how OCNDS arises and to explore potential therapeutics. The grants were awarded to:

Dr. Heike Rebholz , a neuroscientist and biochemist at the Institut de Psychiatrie et Neuroscience de Paris conducting a multi-year project studying the biochemistry of OCNDS;
Dr. Karsten Niefind , a structural biologist at the University of Cologne in Germany , with extensive expertise in the crystallization and 3D structure of CK2 proteins;
Dr. Joachim Jose , an expert in protein-protein interaction and kinase inhibitors at Westfalian Wilhelms- the University of Münster in Germany ; and
Dr. Isabel Dominguez , a cell and development biologist at Boston University .

In 2020, we continued our collaboration with Simons Searchlight who is conducting a CSNK2A1/OCNDS long-term natural history study. We are improving our community’s understanding of OCNDS through our families’ participation in the Simons Searchlight study. Our president, Jennifer Sills, continued her 2-year on the Simons Searchlight Inaugural Community Advisory Committee (“CAC”). The CAC is to advise and guide research and community activities on behalf of all Simons Searchlight participants and gene groups. The CAC gives our Foundation the chance to provide our perspective on Simons Searchlight’s research priorities, offer feedback on research surveys and website functionality, and give input on articles, webinars, and other communications of interest to the community. To learn more about Simons Searchlight .

In continued collaboration with Simons Searchlight, in 2021, we expect to have 8 to 9 iPSC cells available to qualified researchers. iPSC cells are Induced Pluripotent stem cells. iPSC cells are an important research tool for modeling and investigating rare diseases and drug screening. iPSC cells can be made from a patient blood sample or skin cells. Researchers take a person’s skin or blood and reprogram them into iPCS cells, and then use those to grow liver cells, neurons, or whatever cell is needed to study a disease. Since we wouldn’t harvest neurons or brain cells from our children, we can use these iPSC cells and turn them into neurons for researchers to study. Researchers will be able to tell how a mutation on the CSNK2A1 gene is affecting neurons and other cells in the body. This will be an exciting addition to our research toolbox. We are beyond grateful to Simons Searchlight for orchestrating the making of these cells. Thank you to our OCNDS families who have donated blood to Simons Searchlight for the creation of this incredible research tool.
In May, in partnership with Simons Searchlight, we hosted our first virtual scientific conference. Researchers and scientists from all over the globe joined. The agenda included a short introduction to SFARI resources and funding opportunities, a short introduction of each participant’s research interests and how CSNK2A1 fits in with their interests, and an open discussion on the science. In 2021, we look forward to being in person for our second scientific conference.

Awareness
Never underestimate the power of knowledge and awareness. We strive to elevate awareness of OCNDS. Most, if not all doctors, have never heard of OCNDS. We are changing this. With awareness comes social acceptance and kindness, which can mean all the difference for a family struggling with basic daily activities. We host several awareness events throughout the year to shine a light on OCNDS.

Rare Disease Day takes place every year on the last day of February, which this year was the 29th of February, a leap year. Rare Disease Day is dedicated to raising awareness for people living with a rare disease. The rare disease community and its supporters came together to share this message: “Rare is many. Rare is strong. Rare is proud!” This year, Rare Disease Day highlighted the need for more equitable access to social opportunity, treatment, and care for the 300 million people living with a rare disease and their families around the world. We loved seeing our OCNDS families bringing awareness to their communities for Rare Disease Day. An OCNDS parent Erica shared: “My son, Jordan, is 6 years old and has OCNDS. I want to bring awareness to our community about OCNDS. Today, here in the Rio Grande Valley, we held an awareness event at his elementary school. It made me feel so amazed how much support he had from his own school and classmates. It is incredible that yesterday they didn’t know what OCNDS was and now, today, they do!” Congratulations to all of our OCNDS families and supporters on their successful awareness events!

April 5th is International OCNDS Day. Our awareness day is April 5th because, in April 2016, the first paper describing OCNDS was published. Initially, there were five children identified in the paper with OCNDS. Soon these five children would be joined by others around the world. This year, we hosted our first International OCNDS Day. It was an online awareness campaign called Take 5. In honor of the first five patients who on April 5th, finally received a diagnosis for the symptoms that affected their ability to talk, walk, eat and live normal lives, we asked people to Take 5. We asked people to give us 5 minutes of their time to watch this video about those individuals living with OCNDS and to use their voices and share the video with 5 of their friends and family.

We were also given the opportunity to bring awareness to OCNDS through the power of a podcast, two films, testimony to the California legislature, and an online article.

In May, our president shared her family’s journey with OCNDS and the creation of the CSNK2A1 Foundation with Tammie Carpenter Bennett on the Show Up Society podcast . Thank you, Tammie, for helping bring awareness to OCNDS and for shining a light on our small but mighty OCNDS army!

Our president also had the honor of interviewing the families featured in the documentary Good Days, Bad Days, Rare Days which was released in 2020. Here are some of her thoughts from the experience:

I was so grateful to Bo Bigelow and Daniel DeFabio, the Co-Founders of Disorder: The Rare Disease Film Festival, for the opportunity to speak with these extraordinary, rare warriors. Even though our rare diseases are vastly different, it was incredible to see how our journeys are so strikingly similar. During the interviews, I found myself crying because I saw myself in them. I heard my words, my thoughts, and my feelings in their words. It was as if I was sitting across from myself. I know the pain of which they are speaking. I experience the hope that they feel. I share many of the same wishes and dreams that they have for their own children. I also know the urgency and call to action that they feel. It made me feel a part of a larger community. It made me feel less alone. The isolation and loneliness that come with having a child with a rare disease are suffocating. It is indeed rare to feel like someone else truly understands what it is like to care for someone who is rare. The true beauty of this film is the power to see your own story in others and realize you are a part of a community even larger than your own rare disease community.

Thank you Daniel DeFabio and Bo Bigelow for this beautiful reminder that we are NOT alone!
In August, our president gave testimony at the California Rare Disease Caucus about how COVID-19 closures and the lack of access to medically necessary services for her daughter Jules, who has OCNDS, led to unprecedented regression. She explained that Jules’ lifeline to the world is structure, a schedule, and consistency. In March, with the abrupt school closures and the loss of services, Jules’ lifeline disappeared and soon did the Jules they knew. Their story isn’t unlike many others with rare diseases or OCNDS during these complicated times. In California alone, there are 4 million people living with a rare disease. States, including California, struggled to strike a balance between keeping families safe and healthy and providing services to rare disease patients that they so desperately needed. In her testimony, Jennifer asked California assembly members: “As you are making decisions about prioritizing what to open, where and when, I ask you to please remember Jules and other children like her and how they are struggling every hour of every day that goes by without the services that are vital to preserving their mental health and maintaining their skills that they have worked tirelessly for years to gain.” Thank you to Cal Rare and Angela Ramirez Holmes for giving our president the opportunity to share Jules’ story.
We are a proud member of the Global Genes Foundation Alliance. Global Genes’ mission is to connect, empower and inspire the rare disease community. As part of the Foundation Alliance, we have the opportunity to collaborate and exchange best practices with other rare disease organizations to drive better outcomes for the rare disease community. In October, Global Genes profiled our president and the CSNK2A1 Foundation.

In December, Cheryl-Lynn Townsin made an incredibly powerful documentary film in memory of her extraordinary daughter, Lexi. The film shares Lexi’s rare disease journey alongside 7 other inspiring rare disease families. The film, Rare Humans: Turning Hope Into Action , features stories of amazing families who are stopping at nothing to find a cure for their children. We are beyond honored and humbled that the Sills family’s journey and the Foundation’s efforts are included in this powerful film.

Fundraising
We had no idea what to expect in this unprecedented year. In a time of great uncertainty, our donors’ generosity knew no bounds. We have no paid employees. This organization is run on the blood, sweat, and sometimes tears of volunteers. A vast majority of the money raised goes toward life-changing research and the remainder goes to family educational programming to bolster the patient voice. With our donors’ generosity, we were able to continue to fund life-changing research and programming.

Due to the COVID-19 global health crisis, we canceled our 2nd annual Drive for Diagnosis golf classic scheduled for April 20th at El Caballero Country Club. The golf classic is our largest source of funding. Our Golf Committee, together with our Board of Directors, decided to refund any donor who requested a refund. We are proud to report that not one donor asked for their donation to be returned. Our golf donors allowed us to retain their donations to help our research and development efforts. Thanks to their generosity, we raised $150,000. Half of the net proceeds raised continued to support the CSNK2A1/OCNDS research program at TGEN’s Center For Rare Childhood Disorders led by Dr. Vinodh Narayanan. TGen is an Arizona-based nonprofit medical research institute dedicated to conducting groundbreaking research with life-changing results. To learn more about TGen . Thank you to our golf committee: Micheal Kaplan, Jr (Co-Chair), J. Michael Grossman, Joey Behrstock, Mike Grossman, Avisha Patel, and Jason Sills.

On December 1, 2020, the world was united by Giving Tuesday, a global day of giving. We launched our Gift of Hope Campaign for Giving Tuesday. We raised a total of $60,025.59 from Facebook, Instagram, online donations, and mail-in donations. Facebook matched $226 in donations for our Gift of Hope fundraiser. Donors, Joan and Charlie Davis, generously matched all donations dollar-for-dollar made to the foundation for Giving Tuesday during the month of December for a grand total of $120,051.18 . Thank you to all of our donors and supporters for making this a huge success! Joan and Charlie Davis, we can’t thank you enough for your generosity and continued support!

Empowerment & Education
Due to COVID-19 restrictions, our in-person scientific and family conference shifted to an online virtual event. In partnership with Simons Searchlight, the virtual conference took place over 3 days in August. It was an information-packed 3 days. The topics were Challenging Behaviors; Genetics 101 & how to read your genetic report; what is Simons Searchlight; what is SFARI science?; IPSCs; Animal Models; Gene Therapies; Clinical Trials; Simons Searchlight CSNK2A1 registry results; Understanding the effect of disease-causing mutations on CK2; genotype-phenotype analysis of OCNDS; and the CSNK2A1 Foundation Update. Recordings of the conference sessions are available on our website. We hope to see everyone in person next year, 2021, in Baltimore.

In June, we selected our inaugural Parent Advisory Board (“PAB”). The PAB is comprised of 10 passionate parents from around the globe, representing the United Kingdom, the United States, Australia, Canada, and Austria.

Our PAB advises our Board of Directors, brainstorms ideas, and shares insights from the parent perspective related to OCNDS. Their commitment is: 1-year commitment with one year option to extend, 6 hours of leadership training, 2 hours per month for Meeting Virtual Calls, and 5 hours a month minimum for PAB projects. This group is extremely motivated and is completing their first project – an online Needs Assessment Survey for our community that will set research priorities and the direction of our foundation for years to come. The survey will be released to our community on Monday, February 1, 2021.

In 2020, we launched our Parent Education Webinar Series. As OCNDS families try to navigate a new diagnosis, they can be overwhelmed with information. We want to provide informational videos to help parents and patients navigate their rare diagnosis and inform them about the different types of interventions available. The more families know about different types of therapies and services, the more vital and vibrant OCNDS patients’ lives can be. Our first webinar was about Music Therapy. Thank you to Kristin Moulder of Midwest Music Therapy Services for donating her time and talents to introduce Music Therapy to our community. Thank you to the Jordan family for sharing their experience with music therapy and participating in a demonstration. Be on the lookout for our quarterly release of the Parent Education Webinar Series.
We are not only funding research but we are also looking for tools for our families to use to help their children live independent, happy and full lives – which brought us to Missouri. Thank you Terri Jordan and her amazing family for their hospitality and for introducing us to Charting the LifeCourse. “The Charting the LifeCourse Framework was created by families to help individuals and families of all abilities and all ages develop a vision for a good life, think about what they need to know and do, identify how to find or develop supports, and discover what it takes to live the lives they want to live. Individuals and families may focus on their current situation and stage of life, but may also find it helpful to look ahead to think about life experiences that will help move them toward an inclusive, productive life in the future.” More to come about Charting the LifeCourse in 2021.

Connection
Every patient and their family has a unique story to tell about their rare disease journey. On average, it takes 7 grueling years for a family to receive a diagnosis. Families can feel defeated and isolated. Families can feel unheard and unseen. Finding a community can make all the difference on this rare disease journey. It is life-changing when someone understands your rare disease journey. Part of our mission is to foster connection and community for OCNDS families.

We identified 42 new OCNDS families from around the world, including New Zealand, France, Spain, the United Kingdom, the USA, Hong Kong, Portugal, Canada, Netherlands, Australia, India, and the UAE. People living with rare disease often face a diagnostic odyssey, typically waiting for years for a diagnosis and receiving multiple misdiagnoses along the way.
Volunteers are the lifeblood of our organization. We had 15 volunteers who generously donated their time. Our volunteers span the globe – from Italy to Texas to Los Angeles to Chicago to New York to San Francisco. Without our CSNK2A1 Foundation volunteer interpreters, we couldn’t have connected with our new families from around the globe.

In 2018, Dr. Wendy Chung and Dr. Volkan Okur provided our community with answers to the most common questions about OCNDS. From this, we created a printable one-page document containing the most common OCNDS questions to make it easy for families to share the information with friends, providers, teachers, and doctors. Since very little is known about OCNDS, this document serves as a lifeline to those living with OCNDS and their families. It helps patients and their families easily understand the diagnosis and provides recommendations for care. This year an OCNDS family from the UAE with the help of their treating physician translated the one-pager into Arabic. The one-pager is now available in 9 languages.

Partnership & Family Resources
Every year, we form more and more partnerships with other rare disease organizations. And we will continue to do so. Working together and sharing ideas will only help us achieve our mission faster and more efficiently. In 2020, we became members of four different organizations.

IndoUSRare is a non-profit organization focused on accelerating therapies for rare diseases by building collaborative bridges between the USA and the Indian subcontinent for education, advocacy, & research.
The Rare Epilepsy Network (REN). REN is a partnership between rare epilepsy organizations, the Epilepsy Foundation, Columbia University, and Research Triangle International to conduct research to improve outcomes of rare conditions associated with epilepsy and seizures .
Canadian Organization for Rare Disorders (“CORD”). CORD is a Canadian non-profit organization dedicated to the enhancement of lives of all persons affected by rare disorders through an educational and informational support network.
Cal Rare. They are dedicated to improving the lives of rare disease patients in California . They are a coalition of rare disease stakeholders with a goal to raise awareness among the general public and decision-makers regarding rare diseases.

Conclusion
“The best way to predict the future is to create it.” We aren’t leaving OCNDS to chance. We are tirelessly working towards a future in which we have a treatment or a cure for OCNDS. We are creating a future in which our children are not plagued with OCNDS symptoms. With your continued support, we are transforming hope into action.

Today, December 1st, is Giving Tuesday!

Tue, 01 Dec 2020 04:55:00 GMT

Today, December 1st is Giving Tuesday, a global day of giving. “Your spark can become a flame and change everything.” E.D. Nixon Be The Spark for those living with OCNDS. Give a Gift of Hope today . There are limitless ways to give. Today, give the gift of hope by SHARING this video on Facebook, Instagram, and Twitter. Today, give the gift of hope by EMAILING your friends and family this video so they can learn more about OCNDS. Today, give the gift of hope by DONATING to fund life-changing research. Double your impact today! All Giving Tuesday contributions will be MATCHED by a generous donor.

Thank you for giving our community the GIFT OF HOPE in a time where we need it more than ever.

President, Jennifer Sills profiled by Global Genes

Fri, 23 Oct 2020 05:09:00 GMT

We are a proud member of the Global Genes Foundation Alliance . Global Genes ’ mission is to connect, empower and inspire the rare disease community. As an Alliance Foundation, we have the opportunity to collaborate and exchange best practices with other rare disease organizations to drive better outcomes for the rare disease community.
Global Genes profiled our President, Jennifer Sills and the CSNK2A1 Foundation .

Learn more about Global Genes at www.globalgenes.org

We are excited to launch our Parent Education Webinar Series

Fri, 09 Oct 2020 04:58:00 GMT

We are excited to launch our Parent Education Webinar Series.
As parents and patients try to navigate a new diagnosis, they can be overwhelmed with information. We want to provide informational videos to help parents and patients navigate their rare diagnosis and inform them about different types of interventions available.
Our first webinar is about Music Therapy . Thank you to Kristin Moulder of MidWest Music Therapy for donating her time and talents to introduce Music Therapy to our community. Thank you to the Jordan family for sharing their experience with music therapy and participating in a demonstration.

Be on the look out for our quarterly release of the Parent Education Webinar Series.

If you have ideas for an educational webinar or a provider who would like to present, please contact us at info@csnk2a1foundation.org
To learn more about MidWest Music Therapy visit http://www.midwestmusictherapy.com/Midwest_Music_Tx/home.html

Share the Joy of Giving!

Mon, 05 Oct 2020 05:06:00 GMT

SHARING IS CARING!

There are so many ways to share the love of giving to help us find a cure and make a meaningful change in the lives of individuals affected by OCNDS.
Did you know that you can donate your birthday by creating a Facebook fundraiser? It is as easy as one click to make a difference. Click below to start your FACEBOOK birthday fundraiser: https://www.facebook.com/fund/csnk2a1/
Thank you to our donors who have donated their birthdays to help us turn hope into action!

Another easy way to contribute is to support business charitable giving . Shop at Amazon Smile and Amazon donates to CSNK2A1 Foundation with no fees or extra cost to you! Just share the link with family and friends for no-fuss giving!

And, of course, you can share our website to donate directly to CSNK2A1 Foundation through a one-time donation - or set up recurring donations ! Monthly donations are automatically deducted from your Paypal account or credit card.
Easy, fast set-up and you'll be making a difference to families every month!

And the simplest way to share your love for CSNK2A1 Foundation is to share information on social media. Follow us, Like, and Share our posts!

2019 Year In Review

Mon, 28 Sep 2020 05:19:00 GMT

OCNDS was named just four years ago—April 5, 2016 marks the first publication that brought awareness and answers to families worldwide.

Our President Speaks at the California Rare Disease Caucus

Wed, 26 Aug 2020 05:12:00 GMT

Last week our President, Jennifer Sills, shared her daughter Jules’ story at the California Rare Disease Caucus at which assembly members were present. Thank you to CAL RARE and Angela Ramirez Holmes for giving her the opportunity to share how COVID is affecting those with rare disease. The hearing video is on their website: www.calrare.org You can hear our president at around minute 21.

Here is an excerpt from her testimony:

“She has to work hundreds of times harder than the average child to reach milestones in her 11th year of life that many children reach in their first year of life. For example, in the last year she has started to call me Mama. And as her Mama, I am here today to say that particularly in a pandemic we must work together to find a way to ensure our most vulnerable populations continue to have equal access to education and therapy services and do not become an afterthought. We need to make sure they continue to move forward and do not permanently go backward.”

#OCNDS #csnk2a1 #HopeIntoAction #strongertogether #raredisease

Save The Date for our Virtual Conference

Tue, 16 Jun 2020 05:32:00 GMT

Registration is open for our Virtual conference.

Here are the details. Times are in EASTERN Standard time. Please adjust for your time zone.

Please encourage providers, educators, friends and family members to join and learn more.

Please register for EACH session AT:

General Session 1, August 7

General Session 2, August 14

SNK2A1 Meeting, August 16

We are working with Simons Searchlight to get these sessions translated into different languages. They will be available at a later date.

Building an Army to Find a Cure on The Show Up Society Podcast

Wed, 03 Jun 2020 05:36:00 GMT

Founder and President, Jennifer Sills, talks with Tammie Bennett from the Show Up Society Podcast about her family’s journey with OCNDS and starting CSNK2A1 Foundation.

We thank Tammie Bennett for “showing up” for our OCNDS community and bringing awareness to this ultra rare genetic syndrome.

April 2020 Research Update

Mon, 20 Apr 2020 05:57:00 GMT

Dear Donors, Supporters, and Friends,
Today would have been our 2nd annual Drive for Diagnosis Golf Classic at El Caballero Country Club. We want to thank you for your continued and generous support.
We remain committed to funding neurodevelopmental research that impacts not only the lives of those with Okur-Chung Neurodevelopmental Syndrome but possibly those with Parkinson’s, Alzheimer’s, Cancer and Autism.
Please watch this brief message from Dr. Vinodh Narayanan, Medical Director for TGen’s Center for Rare Childhood Disorders to hear about the progress made possible by your generous contributions!
We are profoundly grateful for your support. Thank you for helping us turn hope into action. We wish you and your family good health. Looking forward to seeing you again soon!
Warmly,
Jennifer Sills & Micheal Kaplan, Jr.

Co-Chairs of the Drive for Diagnosis Golf Classic

Announcing Our Inaugural Parent Advisory Board

Wed, 15 Apr 2020 05:59:00 GMT

We are thrilled to announce we are working on new initiatives for the OCNDS community. We are forming our inaugural Parent Advisory Board. We are looking for caregivers or parents who want to get more involved. This is an exciting opportunity for parents or caregivers of an OCNDS patient to make a difference in the lives of those affected by OCNDS. Parent Advisory Board will advise our Board of Directors, brainstorm ideas and share insights from the parent perspective related to OCNDS.
Commitment :

For inaugural group, 1 year commitment with one year option to extend
Meeting Virtual Calls - 1 hour per month
5 hours a month minimum for PAB projects
Two 2-hour virtual trainings (spread out between two months)

Applications are due May 15, 2020.

2020 Awareness Day

Sun, 05 Apr 2020 06:13:00 GMT

We Aren’t Alone: What it means to receive a diagnosis

Sun, 05 Apr 2020 06:02:00 GMT

Written by an OCNDS parent
My husband and I are parents to two (2) amazing children. Our daughter was diagnosed with OCNDS at the end of October 2019. We have been searching for a diagnosis for her symptoms for 13 1/2 years. Throughout the years, we took advantage of whatever the latest genetic testing was at the time, but it was not until a cheek swab which we did last June gave us any type of answer.
It really was overwhelming to know that there was an answer after so much time searching. We’ve been to so many specialists over the years and have dealt with so many different health and developmental issues. We were so lucky to have an amazing neurodevelopmental doctor who we began seeing when she was 12 months old. He really steered us and supported us through all of these years; always telling us that no matter whether we found an answer or not we were doing all of the right things for her.
Getting the OCNDS diagnosis was overwhelming because it connected so many of her issues together. As soon as we found the foundation’s website, we couldn’t believe how much it fit.
It has been amazing to find a community that is so open and welcoming. It’s really helpful to see so many people sharing information as we all try to learn and compare notes about our journeys. I realize that everybody has unique circumstances, but I cannot tell you how overwhelming in the best way it is to know that we aren’t alone.

For so many years, we never “fit” anywhere and it’s nice to have a home.

Announcing our First OCNDS Awareness Day

Tue, 17 Mar 2020 06:21:00 GMT

We are pleased to announce our first OCNDS Awareness Day

Save the Date for April 5, 2020 for our Take 5 Campaign and learn more about OCNDS and why we chose this day.

#ocnds #hopeintoaction #ocndsawareness #csnk2a1 #weareyou

Celebrating Rare Disease Day in the Rio Grande Valley, Texas, USA

Mon, 16 Mar 2020 06:19:00 GMT

by Erica Lee Trevino

“My son, Jordan is 6 years old and has OCNDS. I want to bring awareness to our community about OCNDS. Today, here in the Rio Grande Valley, we held an awareness event at his elementary school. It made me feel so amazed how much support he had from his own school and classmates. It is incredible that yesterday they didn’t know what OCNDS was and now, today, they do!”

Call to Action! Sign up for the CSNK2A1 Natural History Study

Thu, 12 Mar 2020 06:23:00 GMT

Each genetic variant is important! In order to be represented in research, you must participate in research!
Answer the call to action and sign up for the CSNK2A1 natural history study .

We highly encourage our community to register with Simons Searchlight to participate in the Simons Searchlight long-term natural history study. By participating in the Simons Searchlight study, we can improve our community’s understanding of OCNDS.

The Importance of Raising Awareness and Its Effect on Social Opportunity by Jacquie Lopez

Wed, 11 Mar 2020 06:26:00 GMT

Amanda (at right) graduating with her proud sister, Madie, by her side.
by Jacquie Lopez
“3 weeks ago my eldest daughter, Amanda, had a job interview at Inspire Me Bracelets. Her sister Madie just wanted to go with her to the interview. Amanda didn’t want to tell her no and hurt Madie’s feelings. Even against my advice, I let Amanda take Madie to the job interview. When asked by the managers why she had her sibling with her to a job interview, she explained that her sister had a rare disease and she didn’t want to disappoint her sister. They met Madie and learned about OCNDS. They hired Amanda and even allow Amanda to bring Madie to work on weekends. There are still amazing people on earth. It gives me hope for a better future for our kids. Now Madie tells everyone she landed her sister a job.”

#RareDiseaseDay #weareyou #HopeIntoAction #ocnds

Offering Timo The Best Future by Myrthe Dolstra

Sat, 07 Mar 2020 06:28:00 GMT

By Myrthe Dolstra
Our Timo was born on 11/22/2016, I was exactly 37 weeks pregnant. It was a tiny man with long blond hairs. It was a lot smaller and lighter than expected, but we were not worried at the time. We were in love with our little man. After 6 months, it started to show. Timo began to miss milestones, grew slowly and began to refuse his bottles more often. Of course every child does that sometimes, and every child follows his or her own developmental line, but the feeling that something was wrong was just very strong. Timo was almost one year old when we saw a pediatrician who specializes in development issues. When she confirmed my concerns by indicating that she, too, did not consider this to be normal development, it was on the one hand as if a burden fell off my shoulders, on the other it felt as if the ground was sinking away from under my feet. I’m not kidding, something is indeed wrong. But what is it then? What’s wrong with my child?
At that moment we went into the medical mill: blood was taken for a genetic (WES) examination and unfortunately we had to make the painful decision to introduce a nasal tube. After 6 months of uncertainty, a diagnosis was made on 9 April 2018: Timo has Okur-Chung syndrome, or OCNDS. After we had looked up a few things about it, we were actually very relieved. This seemed like peanuts compared to all the doom scenarios that had gone through my mind in the last 6 months. And in all honesty: it still feels that way. We realize very well that it could have been much worse.
I am told very often that we are so good at dealing with Timo’s syndrome. Although I understand that it is meant as a compliment, I always find it special to hear. Timo is our child, of course we can handle him well. In addition, he is our first and therefore our only frame of reference at the time, for us the things we encounter are very normal. Meanwhile, Timo has a little brother, Jesse of 10 months, and we only see at close quarters how a “normal” development is progressing. Because of this I understand that outsiders think we are having a hard time with Timo. And yes: it is certainly not always that easy. Timo does not speak, is very sensitive to stimuli (which is a pretty difficult combination because he cannot explain to us how he feels), suffers from balance problems and muscle stiffness and is still dependent on tube feeding (although the nasal probe is a thing of the past, Timo is lucky) a Mic-Key button since June 2018). But the most important thing is that Timo is a sweet and cheerful man. His syndrome makes him who he is, we enjoy him immensely.
We have been very lucky that science has reached such a stage that this type of syndrome can be detected in no time and that this diagnosis came so quickly for us. But there are still a lot of questions to which we have no answer. We hope to get more answers to these questions through more research, so that we can offer Timo the best future.

#weareyou #strongertogether #oncds #earlydiagnosis #HopeIntoAction

“We Had No Idea” by Amber Reynolds

Fri, 06 Mar 2020 06:30:00 GMT

We Had No Idea

Rare Disease Day Reflection from a Rare Warrior Mama, Amber Reynolds:
When Harper was born we had no idea about genetic diseases, developmental disabilities, and that sometimes “healthy” babies have underlying problems that show up well after birth.
We had no idea that 9 months later our lives would be turned upside down, never to be the same again.
We had no idea that we would spend 6 years, hundreds of late night hours on google, endless appointments with specialists, and thousands of dollars searching for an answer.
We had no idea that we would eventually find the answer we were praying for across the United States, by two geneticists, Dr. Okur and Dr. Chung, working at Columbia University. We never thought we would have the opportunity to meet these two heroes and other families with the same rare genetic syndrome!
We had no idea we would find solace in a small, but mighty, group of families from across the globe, speaking many languages, but finding common ground because of one single tiny gene.
And we had no idea that it would be so exciting to learn about lab studies with mice and genetics, and a bunch of other words we can’t even pronounce.
But mostly, when Harper was born, we had no idea what a wild ride she would take us on, the incredible people we would meet along the way, and the life changing perspective we would be given because of my opportunity to parent a child with special needs.
There are many days we may curse her rare disease, but there are even more days that we thank God for it, CSNK2a1 has been a blessing and has changed our lives for the better.

#csnk2a1 #okurchung #okurchungneurodevelopmentalsyndrome #ocnds #careaboutrare #rarediseaseday

Reflections on the rare disease film “Good Days, Bad Days, Rare Days”

Fri, 28 Feb 2020 06:33:00 GMT

I had the honor and privilege of interviewing most of the families that were in Good Days, Bad Days, Rare Days . I was so grateful to Bo Bigelow and Daniel DeFabio, the Co-Founders of Disorder: The Rare Disease Film Festival, for the opportunity to speak with these extraordinary, rare warriors. Even though our rare diseases are vastly different, it was incredible to see how our journeys are so strikingly similar.
During the interviews, I found myself crying because I saw myself in them. I heard my words, my thoughts and my feelings in their words. It was as if I was sitting across from myself. I know the pain of which they are speaking. I experience the hope that they feel. I share many of the same wishes and dreams that they have for their own children. I also know the urgency and call to action they feel. It made me feel a part of a larger community. It made me feel less alone. The isolation and loneliness that come with having a child with a rare disease are suffocating. It is indeed rare to feel like someone else truly understands what it is like to care for someone who is rare. The true beauty of this film is the power to see your own story in others and realize you are a part of a community even larger than your own rare disease community.
In the early days, there were lots of tears surrounding Jules’ diagnosis. Jules has Okur-Chung Neurodevelopmental Syndrome (“OCNDS”). Individuals with OCNDS are prone to speech delay or the inability to speak, epilepsy, global developmental delay, autism spectrum disorder traits, structural abnormalities in the brain, difficulty feeding and much more. To date, there are over a 100 cases worldwide. These days I don’t cry much. This life is a new normal. I channel my grief, fear and tears into working tirelessly to help other families with OCNDS feel less alone and to fund research to cure OCNDS. However, after I had the privilege of speaking to these amazing humans, I went to my car and I did the “Oprah ugly cry” because this journey, it is hard. There’s no other eloquent way to say it. There are many moments in which you can literally feel your heart breaking. Your lowest of low is to see your child in agony and pain, and there’s nothing you can do about it. In those moments, you try to remind yourself that life is made up of small, tiny moments. You tell yourself, “you will get through it” and “this moment will end and you will see a smile on her face again.” But, when you see your child in so much pain and agony, one second seems like a lifetime. It feels like it is never going to end and that you are alone.
I hope when you watch DeFabio’s film that you see yourself in others’ stories and you feel less alone. There are over 300 million people who feel like you do. I also hope you give yourself a moment to cry and then a moment to reflect on what an incredible advocate you are, and what a badass human you are! There are people who know what you are going through. We are stronger together; WE ARE YOU.
Thank you Daniel DeFabio for this beautiful reminder that we are NOT alone!

#weareyou #ocnds #strongertogether #HopeIntoAction #boschboonstraschaafopticatrophysyndrome #epidermolysisbullosa #ichthyosis #dyskinesia #syngap1 #menkesdisease #cu29 #ADCY5 #disorder

6 Days In The Life Of Our Foundation & Our Quest For Answers

Thu, 12 Dec 2019 06:45:00 GMT

“Hope cannot be a passive concept. It’s a choice and a force; hoping for something takes more than casting out a wish to the universe and waiting for it to occur. Hope should inspire action.” – Dr. David Fajgenbaum, Chasing My Cure

Every day we work tirelessly behind the scenes to unlock the mysteries of OCNDS, connect families and inspire action. Here is a snap shot of six December days in life of the Foundation.
Miles Traveled : 17,218 miles Families Met : 10 Modes of transport : plane, train, rented car, cab, tram and London’s tube Countries visited : France, Netherlands, UK (and Belgium) Survived : Largest public transportation strike ever in France & torrential rain in the Netherlands Research institutions visited : 2 New patients diagnosed in US : 2 Stops at Wagamama : 2 Types of Stamppot tried : 3 Tears shed from meaningful moments : too many to count Fueled by : meeting patients and their amazing families, love, home cooked meals, and lots of coffee Topics of con versations :

Simons Searchlight Natural History Study and how to participate,
Update on our biochemistry study lead by Dr. Heike Rebholz,
How CK2 works,
Website translation,
OCNDS Expertise Centers in the Netherlands,
OCNDS Resource web pages for each country,
Interventions that are helping,
Disabled bathroom keys in the UK,
Possibility of an international meeting held in Europe,
Collaboration with the CSNK2B group,
How our kids are best supported in the school environment,
The importance of knowing the exact mutation or change,
TGen’s research,
Making reagents for research
How science is catching up and why the time is now,
Difficulties of getting a diagnosis,
Difficulties of finding and connecting with new patients,
Identifying points of contact in each country,
Cultivating relationships with doctors and researchers who will champion OCNDS,
Importance of ICD-10 codes
Fundraising and awareness.

Nothing can keep us from finding answers and connecting families. We are continuously grateful that families open their homes and their hearts to us. We are stronger together! This trip inspired lots of action! One day at a time we are turning hope into action. We are stronger together!

2020 Drive for Diagnosis Golf Classic

Thu, 05 Dec 2019 06:54:00 GMT

With your support, all profits raised will go to ongoing CSNK2A1 Foundation sponsored research. Last year’s tournament allowed us to start the CSNK2A1 Foundation Research Program at TGen. Dr. Vinodh Narayanan and his team through their research are determining whether the symptoms of OCNDS are reversible. The CSNK2A1 Foundation and TGen are working together to use cell lines to model the disease in hopes of finding potential treatments. With your continued support, the CSNK2A1 Foundation Research Program at TGen will give us the opportunity to engage with families, expand on research, provide answers for families with children affected with OCNDS, and move towards developing treatments and a cure.

By your generous donations and support, we are able to fight for the children pictured and those children yet to be diagnosed. We are conducting research that will help reverse, cure and alleviate symptoms for those affected by OCNDS. OCNDS is caused by a mutation on CSNK2A1 gene. CSNK2A1 gene has links to devastating childhood cancers, autism, Parkinson’s Disease and Alzheimer’s Disease. As we work around the clock on breakthroughs, we may have the ability to also impact the lives of those who are suffering from cancer, autism, Parkinson’s and Alzheimer’s.

2nd Family and Research Conference

Thu, 05 Dec 2019 06:49:00 GMT

We are excited to announce our 2nd family and research conference.

In collaboration with Simons Searchlight , we will have a joint family and research conference with 3 other patient organizations that present similarly to ours.

When?

Thursday, August 6th - Scientific Day for Researchers
Friday, August 7th - 9th - Family Conference and Research Projects

Where? Hyatt Regency Baltimore Inner Harbor 300 Light Street Baltimore, MD 21202

Cost? Attending families will be responsible for their travel and hotel costs (which will be negotiated at a reasonable rate by Simons Searchlight). However, we are currently speaking with a donor who may sponsor the hotel room costs for our families . Please stay tuned. Families will be expected to register for the conference by the designated date (Date to be determined shortly). Registration is not open yet. Good news, there will be NO registration fee for families.

Why? The Simons Searchlight program is built on the belief that changes in the genes associated with autism and neurodevelopmental disorders cause both unique clinical features within each group but also many similar challenges. We are hopeful that scientific breakthroughs in one rare genetic condition can accelerate progress for other disorders. Bringing together multiple gene groups for this meeting will offer families the opportunity to connect with others sharing their same genetic finding, and also the chance to learn from other groups and participate in research projects looking across conditions. CSNK2A1 Foundation believes that collaboration across similar conditions and groups will accelerate research that will benefit us all.
We are excited to see you all!

If you have any questions, please contact us .

Save the Date for Giving Tuesday 2019

Wed, 20 Nov 2019 06:51:00 GMT

Save the Date: #GivingTuesday is December 3!

We’re proud to be a part of this global celebration of giving. We have a generous donor who will match dollar for dollar (up to $50,000) the donations made to CSNK2A1 Foundation for Giving Tuesday. Everyone can have an impact on #GivingTuesday!

Join us on December 3 by pledging your time, skills, voice, dollars to support finding a cure for Okur-Chung Neurodevelopmental Syndrome and ensuring affected individuals have the opportunities and supports necessary for happy and full lives.

FORE! Reflections from our Drive for Diagnosis Golf Classic

Thu, 25 Apr 2019 07:17:00 GMT

It was a warm and sunny day on Monday April 22, 2019 in Tarzana, California. It was a perfect day for golf! We had a tremendous turn out for the Drive for Diagnosis Golf Classic at El Caballero Country Club . 113 Golfers came out for our 1st Golf Classic to support our collaborative efforts with TGen’s Center for Rare Childhood Disorders to diagnose and cure Okur-Chung Neurodevelopmental Syndrome. Golfers traveled from as far away as Hawaii and New York to Drive for Diagnosis!
Golfers enjoyed a morning massage from Be Mobile Massage , breakfast burritos from Low Key Burritos , a very competitive chipping contest and swag from a pop-up Titleist / Footjoy shop. On course, Mike’s Hard Lemonade stand and Jet 60 ’s margarita machine together with Jersey Mike’s Subs kept our golfers happy and satiated. No one had a hole in one but the field was quite competitive and posted some low scores. We closed the evening enjoying Wente wines, some heavy appetizers, awards presentation and closing remarks. Mellisa and the Charity Angels helped us raise over $62,000 on the day of the golf tournament. Our first fundraising event was a huge success. We raised $284,603 .
We are grateful to our Co-Chairs Jennifer Sills and Michael Kaplan, Jr. for their leadership. Our shining stars, our golf committee, worked tirelessly on this event. Thank you to Liz Kaplan, J. Michael Grossman, Joey Behrstock, Mike Grossman, and Avisha Patel for your dedication, support and hard work.
The event wouldn’t have been possible without our Volunteers! Volunteers make the world go round! Some of our volunteers even flew in from San Francisco to help make the golf classic a huge success. A special thank you to Avisha Patel, Catherine Landers, Cindy Cooney, Denise Grossman, Ellen Rann, Gen Garcia, Jasper Sills, Jenna Rosenbloom, Jennifer Bravo, Katie Grossman, Lee Sandusky, Michelle Meyerhoff, Mona Pine, Susan McHugh, Teri Handelman, Tracy Phelps and Venessa Montanez .
Thank you to our Title Sponsor , Performance Team , for leading the way to a record-breaking fundraiser. We are incredibly grateful to our major sponsors for their support and generosity: The Dorrance Family Foundation , Allen & Anita Kohl Charitable Foundation, David & Amanda Lebowitz Family Foundation, Andy & Ashley Lebowitz Family Foundation, Pinnacle Contracting Corporation , The Karsh Family Foundation and Joan & Charlie Davis .
Funds raised from this event will go to support CSNK2A1 Foundation’s mission and to building a CSNK2A1 Foundation Research Program at TGen.
This tournament provided an incredible opportunity to bring awareness to individuals who have never heard of Okur-Chung Neurodevelopmental Syndrome and to introduce our golfers to the groundbreaking work TGen Foundation is doing in the field of genomic research.
With our donors’ support, we are turning Hope Into Action . Stay tuned for details about our next tournament.

2018 Year in Review

Mon, 11 Mar 2019 07:21:00 GMT

2018 YEAR IN REVIEW

One year ago on Rare Disease Day, we launched the official website for CSNK2A1 Foundation (the “Foundation”). The Foundation just celebrated its first year! We made tremendous progress in our inaugural year. Here are a few things this young organization accomplished in its opening year!

We started to fund a robust Okur-Chung Neurodevelopmental Syndrome (“OCNDS”) clinical research program. It is the first of its kind. As a part of that program, we are developing animal models which include mice and cell lines with mutations in the CSNK2A1 gene that mimic those mutations in individuals affected by OCNDS. Eventually, our researchers will be able to test therapeutics on animal models that will give us a better understanding of the syndrome and will help us develop treatments for those affected by OCNDS.

We began working with Simons Searchlight who is conducting an OCNDS natural history study. Through our patients participating in the Simons Searchlight study, we will improve our community’s understanding of OCNDS. To learn more about Simons Searchlight .

We partnered with the Translational Genomics Research Institute (TGen), to build a CSNK2A1 research program at its Center For Rare Childhood Disorders. TGen is an Arizona-based nonprofit medical research institute dedicated to conducting groundbreaking research with life-changing results. TGen joined the City of Hope system in November 2016. City of Hope provides a significant clinical setting to advance scientific discoveries made by TGen. To learn more about TGen .

In addition, in August 2018, over 70 people, including families, researchers and doctors from around the world, descended upon New Jersey for our first family conference. Participants met other children and families affected by OCNDS. It was the first time they were meeting someone like them. It was incredibly powerful for them to know that they are not alone. Patient and family blood samples are critical for rare disease research and we were able to get blood samples from many participants at the conference, which are being used to make cell lines.

We traveled to the United Kingdom and the Netherlands to meet families affected by OCNDS. There we met with exceptional doctors who are committed to helping OCNDS patients and their families.

We also traveled to Chicago to learn from another rare disease organization. Living true to the Global Genes’ Thrive motto “together we can do more than we can alone”, Dup15a Alliance Executive Director Vanessa Vogel-Farley invited us to see how an established rare disease organization runs its operations and prioritizes its patient community needs. We learned a tremendous amount as we set the goals for our Foundation for the next few years.

We have connected with 23 new patients from around the world. Some patients waited 21 years for a diagnosis. Without the CSNK2A1 Foundation volunteers, who donated their time to help interpret calls, we couldn’t have connected with our families in Korea, Italy and France.

We are excited for 2019. Already in 2019, we launched our first Rare Disease Day awareness project in which Tere Casas, a well-known artist from Mexico, donated her time to help youth in our local community come together to paint about community, acceptance, inclusion, and love. We also hosted a celebration on Rare Disease Day with over 100 people in attendance to bring awareness to OCNDS.

We have our first major fundraising event rapidly approaching. On April 22, 2019, we are hosting Drive for Diagnosis 2019 Golf Classic at El Caballero Country Club in Tarzana, California. Sign up before spots sell out at Golf Classic .

We have another trip to the Netherlands, United Kingdom, France and Italy planned for late April. We can’t wait to connect with families in those countries.

Upon diagnosis, our families are told that there are no cures or treatments for OCNDS. We are changing this with your help. With your support, we are transforming hope into action.

I Challenge You

Mon, 04 Mar 2019 07:27:00 GMT

by Melissa Burnham
Today is Rare disease day!!! After almost 7 years, Belle was finally diagnosed with a rare, newly founded, genetic disease called OKUR-CHUNG Neurodevelopmental syndrome ( Named after the two Scientists who discovered it.) We are so grateful for answers, and the sweet community we have gained.
I thought I’d give a little glimpse into Belle and our life with her so far. She is our first Born and will be turning 8 this year!!! She LOVES all things music, lights, and stimulation like swings and trampolines. She loves her family. Her favorite person in the world is her Bampa Cummins. She loves to cuddle and be warm. Her Grandma Burnham just made her a beautiful weighted blanket that she loves. She is still non-verbal besides some noises and signs. This is the one thing I wish I could improve, so that I could better understand her needs. She walked at the age of four. We never knew if she would, so it was huge. She has a gastrointestinal tube (a tube that we use to put food directly her stomach. She can eat a little but not enough to survive. So grateful for modern medicine). She is immunocompromised and gets sick often. Which means we all get sick pretty often. She is the sweetest spirited person I have ever met. At times I wonder why we were given this specific trial/blessing. I often don’t feel like I am good enough for the task. I am so grateful for the chance to try my best though. I know everyone in our family is better for being near her and knowing her and most importantly serving her.

She loves making friends and parents of special needs kids are usually pretty hard to offend. So, the next time you or your child see someone with special needs while your out, I challenge you to take a minute and say hello. Ask questions. Awareness is the key to change.

Reflections on Rare Disease Day

Sun, 03 Mar 2019 07:24:00 GMT

by Amber Reynolds
As today is Rare Disease day, I wanted to share my sweet Harper’s story again. To honor this day I want to highlight her very rare syndrome, Okur-Chung Neurodevelopmental Syndrome.
Many of you are aware of our journey and trying to find a diagnosis for Harper. We knew within Harper’s first year that she was “different,” she was delayed in her milestones and her head circumference was in the lowest percentile. After many different doctors visits, it was time that we sought out to specialists to find out what was going on with Harper. After she turned one we had gone through many possible syndromes, surgeries, numerous genetic testing, MRI’s, EEG’s, neurology, speech, physical therapy, occupational therapies, and no one had any answers for us.
Then on a follow up genetic appointment at Texas Children’s in July of 2016 Brian and I were told that Harper was 1 out of 10 in the WORLD, with this very rare non inherited syndrome. Okur-Chung Neurodevelopmental Syndrome, also known as CSNK2A1. We were shocked, relieved, and had lots of questions. What does this mean for Harper? What are the other 9 children like?
We were then connected to Dr. Okur and Dr. Chung who connected us with the other families. We were fortunate to have had a conference in New Jersey this summer where we were able to meet 16 of the families and kids. Now there are over 65 kids in the world and the number keeps growing. I’m so proud to be apart of this Okur-Chung Family and I wouldn’t have it any other way. Every year we learn more about the syndrome and who knows what the future holds for our sweet Harper.

Harper is still non verbal and delayed but she has made leaps and bounds of progress! We are so lucky to have made friends who are on this journey with us!

Rare Disease Day Awareness Project

Thu, 28 Feb 2019 07:30:00 GMT

Led by the talented and inspirational artist, Tere Casas, adults and children painted what makes them happy and what community means to them . Tere Casas created a short but powerful video of the extraordinary process. Thank you, Tere, for using art to bring us together! CSNK2A1 Foundation sends a heartfelt thank you to all those that participated.

Art Brings Community Together for Rare Disease Day

Mon, 25 Feb 2019 07:33:00 GMT

Tere Casas is a celebrated and well known artist from Mexico whose work has been showcased around the world . She is an exceptional artist with a huge heart. For Rare Disease Day, she donated her time to show how art can bring a community together. Kids from our Bay Area community transformed a blank canvas into a beautiful, energetic and meaningful piece with her guidance and encouragement. They were told to paint – what makes them happy, what love means to them and what community stands for.
Rare Disease Day brings awareness to communities that are small in number who are often isolated and highlights issues that affect them. You can see as the piece began it felt lonely and small. Once the community came together the images are jumping off the canvas. It is exploding with energy illustrating we are stronger together. We are truly grateful to Tere for donating endless hours to this project and giving our community this experience.
Thank you, Tere, for providing a safe space for us to experience love, inclusion, kindness, happiness and hope. And thank you for giving our community a chance to learn more about rare disease.

To learn more about Tere Casas visit http://www.terecasas.com/

OCNDS journey in Italy

Fri, 22 Feb 2019 07:39:00 GMT

Samuel’s mother has shared their journey in Italy. The English translation is below. The original Italian version follows.

We are grateful to our community who submitted stories leading up to Rare Disease Day . To date, one family has been diagnosed with Okur-Chung Neurodevelopmental Syndrome in Italy. Please read this raw, emotional and honest piece about their journey to diagnosis and their hope to find a cure, to bring awareness to their countrymen, to participate in research and to provide the best life possible for their son. Thank you for sharing your story! We are stronger together!
Hi everyone,
My name is Rossella and I am Samuel’s mother, a fantastic 2-year-old boy.
Samuel was born in September 2016, on a day of pouring rain, after a pregnancy without complication but I went through it with anxiety, not with the typical sensation of joy of a woman is about to become a mother for the first time. The day I found out I was expecting, my legs started to shake terribly. It was a feeling of absolute happiness but at the same time of fear because with happiness often comes the greatest suffering. I wondered how it was possible that something so beautiful could happen to me. I do not know why but it happened. My son is my life, I love him more than anything else in the world and for him I would do anything.
During my pregnancy I had the constant feeling that something would go wrong. I waited until the seventh month of pregnancy to make the first purchases. I looked at the shopping windows but I held back my smile for the fear of letting the happiness I had inside explode and I felt it could be somehow taken away.
After Samuel was born this feeling faded but did not fully disappear. He was 5 days old when during the night I heard him choking because of the gastroesophageal reflux. Our trusted pediatrician prescribed an anti-reflux syrup that partly helped him. However, the following two months were difficult because poor Samuel could only sleep sitting. After that period of time his reflux improved and he didn’t need medication or to sleep sitting. Until recently, I did not witness any other alarming symptoms. Samuel hasn’t had diagnostic tests to determine the origin of his gastric reflux and to what extent, but the pediatrician, after consulting him for a never ending cold, the doctor prescribed the syrup again. The doctor considering the inflammatory state of Samuel was due to gastric juices in his throat.
When Samuel was about a month and a half old, I realized that his eyes were not following my movements. In fact, I noticed it much earlier, but everyone, including pediatricians, told me to wait 40 days, saying newborns should start to see better after this period of time. He also suffered from photophobia so much so that I turned his cradle in the opposite direction of any light source. He also had nystagmus which is the continuous and uncontrolled movement of the eyes.
Thanks to my instinct and my trusted pediatrician who did not underestimate my new-mom concerns, we left for Padua to the Robert Hollaman Foundation which provides advice and support for children with vision impairment. Samuel took all the exams: erg, pev, neurological, orthoptic and ophthalmic. After a couple of days they told us the tragic truth: Samuel was blind, perhaps he could see some the light, but he would be fully blind.
The world collapsed on me. I think that nothing will ever hurt me more than those words of that day 01/19/2017 so bad that going back to those places, smelling those smells, seeing the educators and doctors are still unbearable as Samuel’s disability is still difficult to process. I have learned to live with it but I still cannot manage to think about how many difficulties and suffering he will have to go through in his life and how much effort he will have to make to learn what is taken for granted by others.
The doctors immediately thought my son could suffer from a rare genetic disease. Based on the symptoms and Samuel’s age, they originally considered Leber’s Congenital Amaurosis.
I resigned from work. I admit it was a sacrifice. I gave up everything to dedicate myself to my little angel. Our life was distorted. Nothing was as I had imagined. Nothing made sense anymore. I was looking for a solution – a gene therapy, a miracle. They were dark months, made of tears, anger, of total closure to the outside world, of almost physical pain, of awareness that the feeling that had accompanied me throughout the pregnancy was no longer just a sensation, but a sixth sense. There was still hope – the hope of a misdiagnosis, of a cure discovered by whoever knows where and from.
While we were waiting to take the genetic tests, we began our journey looking for specialists and searching for answers. We spent nights on the Internet. We traveled to Milan, Rome and Naples in search of answers. We returned to Padua to seek advice and support from the Cannero Riviera Center at the Robert Hollman Foundation. My husband even went to the TIGEM (Telethon Institute of Genetics and Medicine) to look for a man of science who could answer our questions. We felt like we were in a race against time with the hope that something could be done … but our search yielded nothing. We also endured two long hospital stays to take in-depth examinations and exclude other diseases.
In the meantime, I tried to find out how much I could about the Leber’s Congenital Amaurosis (LCA). I found the story of Christian Guardino on Facebook, a boy affected by LCA, born blind and healed thanks to the scientific discovery of the gene that caused blindness. Overwhelmed with the desire to do something, hoping my son had the same disease and especially the same genetic mutation, I sent him a message on Messenger, absolutely believing that that message would not be answered. Instead the following day I found his message, Christian’s mom read him my story. She kindly replied and thanks to her, I joined the Facebook group of families with children affected by LCA. Thanks to which I met Silvia, an Italian woman who lives in America. She helped me connect with other parents. She also gave me support and strength.
In November 2017, we got the results of the genetic tests. Samuel was suffering from the rare genetic disease called Okur-Chung Neurodevelopmental Syndrome. They explained it was a neurological disease discovered in 2016, the year he was born, of which little or nothing was known. The same neurologist in Padua did some research to find out more on this disease and told me that unfortunately in literature there were very few cases described and that the answers to the symptoms and health of Samuel would be found only over time. He told us that Samuel might not speak or eat properly, could have problems of motricity, which was already noticed in Padua. He explained that Samuel’s difficulties were not only due to his blindness but also due to problems with his cognitive development, etc….
I cried all night long. The pain seemed unbearable. The fear annihilated me. I was afraid of not being capable. I did not understand the reason why, what I had to do, what I could do in my little town in southern Italy, where ignorance reigns, where for months we have been looking for help without finding it, where there is no idea how to deal with a blind person, where the Okur-Chung Neurodevelopmental Syndrome sounds almost like a dirty word. A thousand questions came to my mind ….
Would my child be happy? Would I be able to communicate with him?
Thanks to Silvia, I was able to contact the Dr. Okur. Unfortunately, I did not receive the answers I was looking for, maybe because it was difficult to interact due to the language barrier. I subscribed to this group. A group of parents who live my own experiences, where I met Jennifer Sills, a super mother who is creating something great to help all our children and thanks to whom I met the wonderful person, Chloe, who helped me to translate this story.
I read immediately all the stories published since the creation of the group. I felt less alone but at the same time frightened by the large number of symptoms that fortunately Samuel did not have, but that terrified me thinking it could happen any time.
As far as I can do on my own, I am trying today to support research, to bring knowledge and awareness in Italy, or at least in a part of it, on this rare genetic disease.
Samuel has grown and exceeded all my expectations. He is a lively child who loves to play. He loves cars and his little horse toy and enjoys experimenting with his hands. He is well integrated into his kindergarten class where he is learning wonderful things and repeats everything he hears. He speaks very well and is starting to build sentences. He loves to color and to listen to music and he moves well to the beat. He walks alone, however, it’s not easy for him to move around and look for objects but we are working on it. He does psychomotricity twice a week, and since last month, thanks to the Italian Union of Blind and Partially Sighted People (UICI), a typhologist meets with Samuel six hours a week.
Samuel has been suffering from sleep disorders these past months. It takes him a while to fall asleep. Often he wakes up in the middle of the night with his eyes closed and sits on the bed with a stiff body and does not want to be touched. He then calms down and comes in our bed a lot of the time.
He has a minimal renal pielectasia of about 9mm, the upper gingival arch is slightly protruding and has not yet received his second molars. He chews well enough but not well enough to be able to eat a larger size of pasta or pieces of meat. He often grinds his teeth. He is nervous especially with me. He tends to crush his eyes with his fingers so he wears glasses, bites the hands of others especially when he is happy, squeezes in his hands the hands of the person he plays with when he’s happy. His behavior sounds very similar to an autistic child I know.
He has been constipated since he was born. We don’t know which disorders are connected to the genetic disease. As a mother I notice and I pay attention to everything, and that might be wrong because observing your child constantly under a magnifying glass is not very healthy.

I’m so happy to be part of this big family, it’s nice to know that I’m not alone.

Ciao a tutti, Mi chiamo Rossella e sono la mamma di Samuel un fantastico bambino di 2 anni. Samuel è nato in un giorno di pioggia incessante, a settembre del 2016 dopo una gravidanza clinicamente tranquilla ma vissuta con ansia, non con la gioia di chi per la prima volta sta per diventare mamma. Il giorno che scoprii di essere in attesa le gambe mi tremarono terribilmente, fu una sensazione di felicità assoluta ma al tempo stesso di paura, perché con la felicità spesso arrivano le migliori batoste, mi chiedevo come fosse possibile che una cosa tanto bella potesse succedere a me, non so perché ma fu così. Premetto che mio figlio è la mia vita, lo amo più di ogni altra cosa al mondo e per lui farei l’impossibile. Durante i nove mesi ebbi la costante sensazione che qualcosa sarebbe accaduto, aspettai il settimo mese per fare i primi acquisti, guardavo le vetrine ma trattenevo il sorriso per la paura di far scoppiare quella felicità che avevo dentro e che sentivo in qualche modo sarebbe stata spazzata via. Dopo la sua nascita questa sensazione si affievolì ma non scomparve del tutto. Aveva 5 giorni e durante la notte lo sentii soffocare, stava soffocando per via del reflusso gastroesofageo, riscontrato dalla mia pediatra di fiducia che mi prescrisse uno sciroppo anti-reflusso che in parte lo aiutò, ma i successivi due mesi furono duri perché poverino poteva dormire praticamente seduto. Successivamente andò meglio, non gli somministrai più nulla, fino a qualche mese fa, personalmente non riscontrai sintomi importanti, Samu non ha mai effettuato esami strumentali per stabilire se e in quale misura è presente il reflusso gastrico, ma la pediatra dopo averlo visitato per via di un raffreddore che sembrava non passare mai, prescrisse nuovamente lo sciroppo ritenendo lo stato infiammatorio di Samuel un ritorno di succhi gastrici in gola. All’età di un mese e mezzo circa, mi accorsi che non seguiva i miei movimenti con gli occhi, in realtà lo notai molto prima, ma tutti compresi i pediatri, dissero di aspettare i fatidici 40 giorni, perché al passare di questi i neonati dovrebbero cominciare a vedere più nitidamente. Inoltre soffriva di fotofobia tanto da costringermi a girare la navetta nel senso opposto alla fonte di luce, e di nistagmo cioè il movimento continuo e incontrollato degli occhi. Sicura delle mie sensazioni e grazie alla mia pediatra di fiducia che non sottovalutò le mie preoccupazioni di neo-mamma (pediatra di fiducia e non la pediatra effettiva di Samuel), partimmo per Padova c/o la Fondazione Robert Hollaman, che si occupa di consulenza e sostegno a bambini con deficit visivo. Samuel fece tutti gli esami del caso, erg, pev, visita neurologica, ortottica e oculistica, così dopo un paio di giorni ci comunicarono la tragica verità: Samuel era cieco, forse percepiva la luce, percezione destinata a svanire con la crescita. Il mondo ci crollò addosso, penso che nulla potrà mai farmi male tanto quelle parole di quel 19/01/2017, tanto male che tornare in quei luoghi, sentire quegli odori, vedere gli educatori e dottori era ed è insopportabile, tanto quanto era ed è inaccettabile la disabilità di Samuel, ho imparato a conviverci ma ancora non riesco a capacitarmi pensando a quante difficoltà e sofferenze dovrà patire nella sua vita, quanti sforzi dovrà fare per imparare ciò che per gli altri è scontato. I dottori intuirono immediatamente che si trattasse di una malattia genetica rara, in base ai sintomi e all’età di Samuel si suppose l’amaurosi di Leber. Lasciai il lavoro con sacrificio lo ammetto, mollai tutto per dedicarmi al mio piccolo angelo tanto desiderato e cercato. La nostra vita fu stravolta, niente era come l’avevo immaginato, nulla aveva più senso se non cercare la soluzione, una terapia genica, un miracolo. Furono mesi bui, fatti di pianti, rabbia, di chiusura totale al mondo esterno, di dolore quasi fisico, di consapevolezza che quella sensazione che mi aveva accompagnata per tutta la gravidanza non era più solo una sensazione, ma un sesto senso. C’era comunque la speranza, la speranza di una diagnosi errata, di una cura scoperta chissà dove e da chi. In attesa di eseguire da lì a poco gli esami genetici, iniziammo il nostro viaggio alla ricerca di specialisti, di risposte, passai notti su internet, andammo a Milano, Roma, Napoli, ritornammo a Padova, andammo a Cannero Riviera sempre c/o la Fondazione Robert Hollman, mio marito andò addirittura al tigem ( centro di ricerca genetica telethon) per cercare un uomo di scienza che desse risposta alle nostre domande, una specie di corsa contro il tempo, con la speranza che qualcosa si potesse fare… ma niente. Facemmo 2 ricoveri per effettuare esami approfonditi ed escludere altre malattie. Nel frattempo cercai di sapere quanto più mi fu possibile sull’amaurosi di leber (LCA) trovai la storia di Christian Guardino su facebook, un ragazzo affetto da questa malattia genetica, nato cieco e guarito grazie alla scoperta scientifica sul gene che gli aveva causato la cecità. Presa dall’emozione e dalla voglia di far qualcosa, dalla speranza che mio figlio avesse quella stessa malattia e soprattutto la stessa mutazione genetica, gli mandai un messaggio su messenger, nella totale convinzione che quel messaggio non avrebbe ricevuto risposta. Il giorno seguente invece trovai un suo messaggio, Cristian fece leggere la mia storia a sua madre, che gentilmente mi rispose, grazie a lei entrai a far parte del gruppo di famiglie con figli con LCA creato su facebook, grazie al quale conobbi Silvia, un’italiana che vive in America e che mi aiutò a interagire con gli altri genitori, mi diede sostegno e forza. A novembre del 2017 ricevemmo gli esiti degli esami genetici, Samuel era affetto dalla malattia genetica rara chiamata Sindrome di Okur – Chung, una malattia neurologica ci spiegarono, scoperta nel 2016, nel suo anno di nascita, della quale si sapeva poco o niente. La stessa neurologa di Padova fece ricerche per saperne di più lei stessa mi disse che purtroppo in letteratura esistevano pochissimi casi descritti, che le risposte sulla salute di Samuel, su tutti i sintomi descritti da questa malattia, le avrei ricevute solo col tempo. Samuel avrebbe potuto non parlare, avere problemi di alimentazione, di sviluppo motorio, per il quale a Padova notarono già dei ritardi non dovuti alla “semplice cecità”, problemi di sviluppo cognitivo ecc… Non feci che piangere quella notte, il dolore mi sembrava insopportabile, la paura mi aveva annientata, avevo paura di non essere capace, non capivo perché, cosa dovevo fare, come dovevo fare nel mio piccolo paese del sud italia, dove regna l’ignoranza, dove per mesi abbiamo cercato aiuto senza trovarlo, dove non hanno la minima idea di come approcciare con un non vedente, dove la sindrome di okur-chung era quasi una parolaccia. E il mio bambino sarebbe stato felice? Sarei riuscita a comunicare con lui? Mille domande mi assalirono la mente…. Grazie a Silvia, alle sue pazienti ricerche, riuscii a contattare il dott. Okur dal quale purtroppo non ricevetti le risposte che cercavo, forse perché interagire era difficile a causa della diversa lingua, mi iscrisse in questo gruppo, un gruppo di genitori che vivono le mie stesse esperienze, dove conobbi Jennifer Sills, una super mamma che ha creato e sta creando qualcosa di grande per aiutare tutti i nostri figli, grazie alla quale ho conosciuto la meravigliosa persona che mi aiuterà a tradurre la nostra storia. Lessi immediatamente tutte le storie pubblicate dalla creazione del profilo, mi sentii meno sola, spaventata per la miriade di disturbi letti e che fortunatamente Samuel non aveva, ma che mi terrorizzavano pensando si potessero sviluppare in qualsiasi momento. Nel mio piccolo sto cercando oggi di aiutare la ricerca, di portare conoscenza e consapevolezza in Italia, o quantomeno in una parte di essa, su questa malattia genetica rara. Samuel è cresciuto ed ha superato ogni mia aspettativa, è un bambino vivace, ama giocare, adora le macchinine e cavallino (giocattolo), ama sperimentare con le manine, si è ben inserito all’asilo dove impara cose meravigliose, ripete tutto ciò che sente, parla benissimo, inizia a costruire le frasi, si muove bene, cammina da solo, ha difficoltà a spostarsi nello spazio e nel ricercare oggetti, ma ci stiamo lavorando, lui fa psicomotricità 2 volte alla settimana, e da circa un mese l’unione ciechi ci assegnato una terapista tiflologa che vede Samu 6 ore a settimana. Samu ha disturbi del sonno da qualche mese, ci impiega un po’ ad addormentarsi e spesso si sveglia in piena notte con gli occhi chiusi, si siede sul letto con il corpo rigido e non vuole nemmeno essere toccato, poi si calma e viene nel lettone, dove ultimamente è molto presente. Ha una minima pielectasia renale di circa 9mm, l’arcata gengivale superiore è un po’ sporgete e non ha ancora messo i secondi molari, mastica abbastanza bene ma non tanto da potergli proporre un formato di pasta più grande o della carne a pezzetti, spesso digrigna i denti, è nervoso soprattutto con me, tende a schiacciarsi gli occhi con le dite per questo indossa gli occhiali, morde come un cagnolino le mani degli altri soprattutto quando è felice, stringe forte nelle sue manine le mani della persona con cui gioca quando è contento, questo lo fa nel gioco ma sono atteggiamenti molto simili a quelli notati in un bambino autistico che conosco. Infine è stitico sin dalla nascita. Tra tutti questi piccoli disturbi non sappiamo quali siano in qualche modo riconducibili alla malattia genetica, da mamma noto tutto e sto attenta a tutto, anche sbagliando perché avere il proprio figlio costantemente sotto lente di ingrandimento non è molto salutare. Sono felicissima di far parte di questa grande famiglia, è bello sapere di non essere soli.

A Piece of a Life’s Journey

Tue, 05 Feb 2019 07:45:00 GMT

Arthur’s mother has shared her story from France. Below is an English translation. The original French version follows.

Since the day Arthur was born I felt he was in pain and that something was wrong . We already had a two-year-old daughter when he was born. My baby was in pain. He cried a lot and slept very little. It was difficult to soothe him. Fatigue, exhaustion and the fear of losing him, these feelings have been part of my life since Arthur was born.
His first pediatrician did not see his difference. He told us boys develop later than girls. After Arthur had stomach’s surgery when he was 15 months old, we went to another pediatrician. From the beginning, his new pediatrician realized that there was a problem at the genetic level, considering all the symptoms Arthur experienced during his growth: small head circumference, dyspraxia, suspicion of TAD, suspicion of Autism, developmental issues, speech issues and motility issues. At the same time, when the pain was less intense, Arthur was always a happy and smiling baby. Now that he is a teenager, he has kept his “joie de vivre” and has a lot of humor despite his difficulties.
The Genetics Department has carried out various genetic tests throughout Arthur’s growth with the expectation of results but it was always negative including genetic testing for fragile X. During all these years I searched for reasons to understand why my child had all these difficulties, these sufferings and these uncertainties. I decided to put my professional life aside. I resigned from my job and dedicated myself to my children. To accompany Arthur to therapies, I worked part-time jobs. I had to push down doors and fight for help (few parents in France accompany their children with disabilities and with professional care givers, and usually children are put in institutions).
I built a team of professionals around Arthur to work with him to improve his abilities and relieve him in his suffering. This high-performance team has evolved over the years following the needs of Arthur (physiotherapist, psychomotor therapist, speech therapist, occupational therapist, orthopedist, osteopath, psychologist). This team is passionate about their profession and their clients. Their kindness and compassion has enabled me to reflect and think about the best ways to help Arthur with his difficulties while at making sure he was happy. The team I assembled has impacted our family life. I have always tried to give special moments to our daughter. Fortunately, my family and friends have had and still have an important role on this team.
A few years ago I decided to resume my studies and obtain social work skills and degrees. This experience inspired me to help vulnerable people: people with disabilities or parents of different children. My professional mission is assist them in any way to improve their situation including educating them about their rights and assisting them in the process of obtaining those rights.
The Announcement
In 2017, when I received a letter from the Genetics Department of the Hospital informing us that a diagnosis was made, I cried. I was overwhelmed by this news but relieved to have an answer and to know the reasons for all these sufferings, questions and difficulties.
Arthur was present when I read the diagnosis and after he read it he handed it to me he said, “does that mean that I have super powers like super heroes?” He felt relieved to know that his difficulties had an explanation.
After this appointment, I searched the Internet for days about this disease and found a webpage in which Professor Okur wrote, “If you know someone or someone in your family has Okur-Chung Neurodevelopmental Syndrome contact me at this email address.” That same day I sent a message, as if it were a message in a bottle, full of hope. Two weeks later, I received a message. I was so happy. We had many fruitful email exchanges. He told me about the closed Facebook group for OCNDS. I joined the closed Facebook group for like parents and from that moment I was no longer alone. I was part of this community of parents who lived or live the same moments as I do. I could finally share my experience as a mom, my life’s experience.
Recently, I had the pleasure of talking with Jennifer Sills about our experience, being a mom, and about the lives of our beloved children. Jennifer is a wonderful mom who goes to meet OCNDS parents and individuals with OCNDS. She gives her time and kindness. We had a strong encounter of emotions despite the kilometers between us.
Thank you! Looking forward to meeting you all!

Arthur’s mom

Un petit bout de chemin de vie…
Dès sa naissance j’ai senti qu’Arthur était en souffrance et qu’il y avait quelque chose qui n’allait pas. Nous avions déjà une petite fille de deux ans à son arrivée.
Mon bébé était en souffrance, il pleurait beaucoup et dormait très peu. Il était difficile de l’apaiser.
La fatigue, l’épuisement, la peur de le perdre, ces sentiments ont fait partie de ma vie depuis sa naissance.
Son premier Pédiatre n’a pas vu sa différence, il nous avait dit les garçons sont plus en retard que les filles. Après l’opération de l’estomac d’Arthur à 15 mois, nous avons changé de Pédiatre.
Dès le début le Pédiatre actuel a su qu’il y avait un problème au niveau génétique avec tous les symptômes d’Arthur au fur et à mesure de sa croissance : petit périmètre crânien, dyspraxie, suspicion TAD, suspicion Autisme, problème de développement, problème de langage, problème de motricité…
En même temps, lorsque la douleur était moins intense, Arthur a toujours été un bébé joyeux et très souriant, maintenant qu’il est adolescent, il a gardé sa joie de vivre et a beaucoup d’humour malgré ses difficultés.
Le Service de Génétique a procédé à divers tests génétiques tout au long de la croissance d’Arthur avec l’attente des résultats mais toujours négatifs : X fragile,…
Pendant toutes ces années j’ai cherché les raisons pour lesquelles mon enfant avait toutes ces difficultés, ces souffrances, ces incertitudes…
J’ai décidé de mettre ma vie professionnelle entre parenthèses de démissionner de mon travail et de me consacrer à mes enfants.
Pour accompagner au mieux Arthur, j’ai pris des emplois à mi-temps, j’ai dû pousser des portes et lutter pour obtenir des aides (peu de parents en France accompagnent leurs enfants en situation de handicap avec des professionnels en libérale, généralement les enfants sont placés en institutions).
Ainsi j’ai constitué une équipe de professionnels autour d’Arthur pour l’accompagner afin d’améliorer ses capacités et le soulager dans ses souffrances.
Cette équipe très performante à évoluée au fur et à mesure des années suivant les besoins d’Arthur (kinésithérapeute, psychomotricien, orthophoniste, ergothérapeute, orthoptiste, ostéopathe, , psychologue…)
Des personnes passionnées par leur métier travaillant dans la bienveillance qui m’ont permis aussi d’avoir des échanges, des réflexions pour trouver les meilleurs axes de travail pour permettre à Arthur d’évoluer au mieux avec ses difficultés et trouver un bien être.
Toute cette organisation a impacté notre vie de famille. J’ai toujours essayé d’accorder des moments particuliers pour notre fille. Et heureusement, ma famille et mes amis ont eus et ont toujours un rôle important dans cet aménagement.
Il y a quelques années j’ai décidé de reprendre mes études pour obtenir les compétences et diplômes de travailleur social. Mon souhait le plus cher était de faire ce métier pour aider des personnes vulnérables, handicapées où des parents d’enfants différents.
Les aider dans les démarches pour obtenir des droits, les accompagner socialement pour améliorer leur situation est devenu pour moi mon chemin professionnel.
L’annonce
Lorsque j’ai reçu le courrier en 2017 du Service de Génétique de l’Hôpital nous informant qu’un diagnostic était posé, j’ai pleuré, j’étais chavirée par cette nouvelle et tellement soulagée d’avoir une réponse et de connaitre les raisons de tous ces souffrances, interrogations, difficultés…
Arthur était présent lors de la restitution du diagnostic, lorsqu’il a tendu il m’a dit « ça veut dire que j’ai des supers pouvoir comme les supers héros ? » <3 <3 <3
Il s’est senti soulagé de savoir que ses difficultés avaient une raison.
Après ce rendez-vous, j’ai cherché sur internet pendant des jours des articles sur cette maladie et j’ai trouvé un message du Professeur OKUR disant : « Si vous connaissez quelqu’un ou qu’une personne de votre famille est atteint du Syndrome neurodéveloppemental OKUR –CHUNG contacté moi à cette adresse mail ».
J’ai envoyé le jour même un message comme une bouteille à la mer, pleine d’espoir.
Deux semaines plus tard j’ai reçu un message de sa part, j’étais tellement heureuse d’avoir reçu son message.
Nous avons échangé et j’ai pu intégrer le groupe parent et à partir de ce moment je n’étais plus seule. Je faisais partie de cette communauté de parents qui ont vécus où vivent les mêmes moments que moi. Je peux enfin transmettre mon expérience de maman, de vie, nous pouvons échanger pour avancer ensemble !!!
Dernièrement j’ai eus le plaisir de parler et d’échanger avec Jennifer Sills sur notre expérience de maman, sur la vie de nos enfants chéris.
Jennifer est une maman formidable qui part à la rencontre des parents qui donne son temps et sa bienveillance.
Une rencontre forte d’émotions malgré les kilomètres.
Merci ! Hâte de tous vous rencontrer !
M aman d’Arthur

Save the Date for Rare Disease Day February 28, 2019

Thu, 08 Nov 2018 09:38:00 GMT

Come celebrate with The Sills Family

&

WHAT? Rare Disease Day is to raise awareness for rare diseases and their impact on the lives of patients and families. WHY? Our sweet Jules was diagnosed with a rare genetic disorder in 2016. 1 in 10 people are diagnosed with a rare disease. We all know someone who is affected. Let’s come together to learn more about each other and support each other on this journey. WHO? For Everyone. All ages. WHEN? Thursday, February 28, 2019 ~ 3:30pm-7pm WHERE? Hillsborough, California

COMMUNITY * CELEBRATE * COLLABORATE

2019 Drive for Diagnosis Golf Classic

Sun, 21 Oct 2018 09:24:00 GMT

Thank you to all of our sponsors

for making our 1st Drive for Diagnosis April 22, 2019 Golf Classic a huge success!

Thank you for your support and generosity!

With your sponsorship we are turning Hope Into Action!

An OCNDS Parent’s Experience at an Intensive Therapy Program at the Star Institute for Sensory Processing

Fri, 21 Sep 2018 09:33:00 GMT

By Keri Ninness
As we began to really prepare for Thomas to go to Public school for kindergarten, we asked his therapists where they saw his biggest areas of need. We then assessed where in our home his functioning was most impaired. While Thomas doesn’t have a full on Sensory Processing Disorder diagnosis, he has many traits of a child with it. Sensory seeking behavior, inability to regulate, auditory processing difficulties, poor postural position, poor fine motor skills, poor motor planning, all had us considering summer intensives. A friend who is an OT suggested her place of work, the Star Institute for Sensory Processing (Star) in Denver . Founded by Dr. Lucy Jane Miller (author of Sensational kids, The Out of Sync Child and various other publications) Star is leading the field in terms of research and diagnostics for kiddos with sensory challenges.
We had a thorough and impressive phone consultation with Andrea Stoker, manager of Star, and determined that a month of intensive therapy would benefit Thomas. Star was extremely helpful in coordinating all of the logistics and so accommodating as they knew I would be leaving our other 3 children for a month.
We arrived and underwent pre-testing and later highly advanced SP3D testing. We determined that what I believed all along were autism like traits were in fact more consistent with dyspraxia and postural disorder . We tweaked our focus from (our highly beneficial) ABA therapy to more OT and PT to help with ideation (so he didn’t get as rigid /inflexible with his ideas for a game or a play date), interventions for when he is dysregulated, and further assistance with his feeding difficulties. Star also discovered some ocular motor challenges and arranged for us to see a vision therapist at highly acclaimed Hellerstein Vision Center.
Thomas and I had daily one hour sessions of strategic play. While tiring for Mama, I learned how to expand and organize his ideas with statements like “I wonder if…” and “it seems like you want to…” Many days there were additional sessions for Thomas and also extraordinarily helpful parent sessions. I cried at most of these as it was abundantly clear that the goals for these sessions was to help me find more joy in parenting Thomas, something I wasn’t sure was possible. But a month later, we left with exactly that- more joy. I now have a toolbox full of interventions for meltdowns and moments of dysregulation . I know to limit the number of choices available to him and how a social story is vital to his day. More importantly, Thomas learned what to do when he feels angry or has big feelings . He has increased moments of self regulation and has a much increased emotional vocabulary. In addition, their constant use of the term “your body” made Thomas so much more aware of what his body was doing and needed which has helped in the ever present potty training struggles. Since Star, he frequently says “my body needs to go tee tee.” Initiating a restroom trip never happened before Star. Finally, the use of an integrated listening system has drastically increased his ability to tolerate accessory noise which I believe has been the biggest contributor to his successful start to kindergarten.
A large portion of Star’s kiddos are on the autism spectrum and there are additional programs for social skills. We utilized the OT component but friends also did their speech program, their highly regarded feeding program and their acclaimed bike camps teaching our often coordination challenged Kiddos how to ride.
All in all this was a massive undertaking that yielded promising results. I learned to truly play with and enjoy my son . What he learned wouldn’t fit on a page. We will hopefully return for a booster session next summer.
As an aside, there are Winter sessions as well as only weeklong summer sessions (which mostly just involves utilizing their testing and diagnostics for educational purposes at home.) There are also many grants available to offset the cost and our insurance company covered a portion as out of network benefits .
I’m happy to talk to anyone interested but highly recommend calling Andrea and just scheduling an intake. They do turn down families who aren’t appropriate for the program and truly want positive outcomes for your family.

https://www.spdstar.org/

Final Thoughts on Our 1st CSNK2A1 Foundation Family Conference

Mon, 17 Sep 2018 10:59:00 GMT

We walked into the 1st CSNK2A1 Foundation Family Conference as strangers and we finished the weekend as lifelong friends . We now have friends (more like new family) that we can call on at anytime who will understand our excitement when our child hits a milestone, or will understand when its been a tough day with challenging behaviors, or will understand the feeling of fear when thinking about the future or just understands what it is like to have a child that has a rare genetic disorder. We departed stronger than we were when we arrived. We left each other more hopeful. We left the conference armed with more knowledge about this new syndrome so we can be better advocates for our children. And as we hugged goodbye smiling with tears streaming down our face, we made plans to see each other in the near future.

TOGETHER we are going to build a better world for our kids. TOGETHER we are going to unlock the mysteries of OCNDS and discover a treatment that will provide a meaningful change for our community.

Off to plan our next conference!

Reflections From an OCNDS Parent on Their Family’s Journey to Diagnosis

Thu, 13 Sep 2018 09:43:00 GMT

By Rhiannon Cramer
I wanted to take a moment to say how thankful I am for the OCNDS community and to tell a little of our story and journey.
Our daughter’s problems were evident by the second week of her life . This turned our lives into a journey that has been a long difficult and at times frantic search for the cause of our daughter’s problems. All of our best laid plans for our family were turned upside down. Instead of returning as planned to my successful career after a few months of snuggling an adorable baby, I started down a new path of work and one that in New York is not paid! On this new path, we were now a one income family trying to just survive and keep our family going! I was learning to care for a medically complicated child with a mysterious illness and an unknown diagnosis while trying to balance marriage, daily life and the needs my other children. Our days were filled with appointments, therapy (OT, PT, SLP, etc) worry, testing, caring, phone calls, and traveling far and wide in an attempt to solve the mystery and help our child. We have an amazing Pediatrician who has been there for our daughter at all times, fighting right with us and for her. We found the right doctors along the way who are passionate about doing their best for her. Unfortunately, we also had other doctors literally give up on her and say, “Call me and come back if you ever figure it out!” Those doctors would not refer anything out for second opinion or review. One doctor did recommend we buy life insurance for her now just in case. It stung to hear those words and I sobbed for a while after hearing them. (Not the worst advice I guess if presented better…regardless it was not in our one income cards anyways). Another doctor opened up a big book to a page with one of our daughter’s more rare symptoms that had five choices for a diagnosis and said, “This is it, maybe, come back in 5 years and we will see if it still fits since insurance won’t pay for testing.” In other words, I don’t feel like bothering. (For that doctor’s information, our insurance did pay for it and it wasn’t the correct diagnosis either!). Countless times, we heard doctors say, “I think this be the diagnosis. I’m going to run a test. Results in four weeks.” Then four weeks later say, “Oh wait. Never mind. Nope, not it!” Some of those misdiagnosis were catastrophic ones, while others were not so bad in the grand scheme of life. Though all of this, we became stronger as a family and never gave up the fight for our little one! Giving up was not an option! We needed to know what we were facing. What will her life be like? Will she live to reach adulthood? What treatments would be best and how? Why is this all happening to her? What can we do to help her? She was slipping away in front of us and we needed to know if there was something we could do to save her! One of the misdiagnosis sent us to Baltimore to meet with another family group and doctors (I was not going to wait 5 years and see if that was the correct diagnosis! She did not have 5 years to wait!). As a result of that meeting, we were able to get Whole Exome Sequencing (WES) done when she was 2.
In late 2015, WES revealed the cause of our daughter’s problems – a genetic mutation of her csnk2a1 gene which was later named Okur-Chung Neurodevelopemental Syndrome (OCNDS) . When our daughter was diagnosed with the csnk2a1 mutation, it was a tiny group and she was the 5th known case. There were only 4 other known girls with the mutation. I received the information about her mutation prior to the first research paper being published. I spent hours, upon hours, upon days, upon weeks, upon months waiting to find any of the other families. Spending hours upon hours reading through any medical journals I could find that even had a mention of csnk2a1. Reaching out to anyone I could find to help me find other affected families or even just understand the mutation. I cannot even count the number of emails and phone calls I made to organizations, medical providers, geneticists, other family groups not related to csnk2a1, and researchers – A hopeful search for information, a search for those other families to be able to talk with them, compare notes with them, learn from them, to finally not be alone, and maybe even reaffirm that she would get better and be with us for a long happy life. This was why I formed the Facebook group and webpage. Very slowly and eventually over time I started to find them (or they found me) one by one. I remember the first time I found a family it was like I had won the lottery! It was then that we were not alone! I never want anyone here to feel alone ever!
With advancements and accessibility to testing we are now finding more and more families . I would never wish a child to have a genetic mutation. But I have never met a more dedicated, determined and loving group of amazing individuals from around the world. They surround our kids with love and hope. They are fiercely determination to help our children live the best lives they can!
After years of this physically, monetarily, and mentally draining quest, this year we finally found a medication to help our little one stabilize and start to help her really be who she can be . This enabled me to take care of myself for once and I had needed surgery done earlier this year. Now that I am feeling better, I realized how much of a toll this journey had also taken on my body and mind. It all managed to accumulate without me noticing. I think that at some point in each of our journeys we all have to deal with these feelings and stressors. We should not be ashamed to talk about how stressful this can all truly be. Now that I have recovered from surgery, I am rested and ready to go with a renewed determination and focus!
Also around that time the amazing and wonderful Jennifer Sills joined our group and jumped right in to help lead the way! She has done such an amazing job with forming and running the CSNK2A1 Foundation. For that I (and I think I can say all of us!) could not be more grateful!
We also have found some amazing support from researcher Dr. Rebholz, T-Gen, Simons VIP, business professionals, geneticists and doctors, including the incredible Dr. Volkan Okur and Dr. Wendy Chung. They are passionate advocates and dedicated to our children. With all of these extraordinary people behind our children, a greater understanding will be reached and shared with everyone.

At the First CSNK2A1 Foundation Family Meeting, it was an honor and privilege to be able to meet those that were able to attend in person. I can’t wait to meet more of you in the future! You are not alone and it is my mission that nobody feels that way! I want everyone to know they can reach out to me at anytime for anything! We will all work towards unlocking the mysteries of our adorable children.

1st CSNK2A1 Foundation Family Conference

Wed, 05 Sep 2018 10:56:00 GMT

FAMILY CONFERENCE

Aug 17-19, 2018

Dr. Wendy Chung

Dr. Volkan Okur - Presenting Discovery of the Disease

Heike Rebholz, PhD - Presenting Casein Kinase (CK2) - Jack of All Trades

Emily Glogowski, MS. MCs, LCGC - Genetics 101 - Gene DX

Day 1

Day 2

Day 3

Spotlight on Cooking Independently!

Thu, 23 Aug 2018 11:05:00 GMT

Today we are featuring an OCNDS Parent, Terri Jordan , who created an amazing product to enable her son and individuals like him with unique needs to cook independently and be more self sufficient. This is one of our goals at CSNK2A1 Foundation to help those affected with OCNDS live their happiest, most independent lives possible. We are grateful to have her as a member of our community. Read more about why she created this innovative product below. Also visit her website at www.thecolorcodedchef.com for more information.
Use the Code CSNK2A1 at check out and Color Coded Chef will donate 10% of proceeds to CSNK2A1 Foundation.

Happy cooking! Happy eating! Happy, independent children!

“When I first came up with the idea for The Color-Coded Chef, I wasn’t trying to start a business. I was simply being a mom and looking for ways to give my son more independence. I knew that his disability would likely mean both developmental delays and less freedom in how he lives his life.
As a parent, I’d gathered as much information as possible, navigating appointments, prioritizing different pieces of expertise, and sometimes struggling with information overload. After the flurry of tests and doctor visits, I had one clear desire: to help my son achieve the happiest, most independent life possible.
Always taking an active role in his development meant looking outside the scheduled meetings and activities for additional possibilities for him.
Cooking is an activity that is filled with possibilities: enjoying good meals, a sense of accomplishment, shared fellowship, and control over our nutrition. Plus, cooking involves many important skills—skills I wanted my son to learn.
Because of my son’s unique needs, I couldn’t count on the standard cooking utensils. However, I could envision tools that wouldn’t be so limited.
My son has felt a surge of pride at making food so delicious people take second helpings. He has contributed to the nourishment and enjoyment of our family. He loves it when his food appears on the table and everyone comments on how good it tastes.
As I embarked on this journey, I shared my vision and the response was nothing short of overwhelmingly positive, from people from many backgrounds and circumstances. I realized that so many people are left out of the way our society teaches and approaches cooking.
From young children who want to safely learn cooking to caregivers of people struggling with dementia, The Color-Coded Chef rescues the art of cooking from the constraints of reading, cognitive abilities, fine motor skills, math, steady hands, and the many other unnecessary limitations.
No matter what their situation, everyone enjoys of sharing meals with their loved ones. At The Color-Coded Chef, we are proud to help make that possible.”

My Reflection of Rare Disease Day 2018 – CSNK2A1 Foundation

Wed, 11 Jul 2018 11:10:00 GMT

EVERY DAY I HOPE YOU FEEL LOVED, SEEN, ACCEPTED AND PART OF A COMMUNITY.

This was the first time our family, together with our community, celebrated Rare Disease Day . We celebrated in honor of our daughter, Juliet, who has Okur-Chung Neurodevelopmental Syndrome (“OCNDS”), an ultra rare genetic disorder. This celebration documented our huge shift as a family to how we approach our sweet Jules’ rare genetic disorder.
I remember when Jules was 18 months old and we were seeking answers. My husband and I were devastated by her initial diagnosis of being on the autism spectrum. The realization that our child was different and her road in life would be filled with many speed bumps and unexpected detours was heartbreaking. Being a first time parent was overwhelming enough without incorporating a team of specialists and a new scientific lexicon into our lives.
As I reflect back on the early years, I think about the tears and the heartache. I responded to the initial diagnosis by taking charge of Jules’ early intervention team, Team Jules Rules, like a Fortune 500 CEO . At the peak, we had 16 providers working under our roof. We encouraged co-treatment, collaboration and teamwork. We held quarterly meetings with detailed agendas and reports. Some days I felt so overwhelmed with managingTeam Jules Rules, I could barely breathe. During those times, I never imagined we would be throwing a party tocelebrate a rare genetic syndrome. Times have changed and science has caught up with Jules. Whole Exome Sequencing recently revealed that she has OCNDS.
Our first Rare Disease celebration wouldn’t have happened without the help of our community. For years, it was difficult for us to accept friends’ offers of support because we didn’t know what we needed or how to say yes. The first step was embracing the importance of saying yes by accepting their help in planning our first Rare Disease celebration. This event taught us that we can’t do it alone and more importantly we don’t have to . (Thank you to my tribe, you know who you are!)
Together with our community, we didn’t plan any ol’ celebration. The next morning our yard looked like the kid version of “The Hangover”. This was a celebration that would bring acceptance, awareness, community, collaboration, hope and a renewed faith in humanity.
At our Rare Disease Day celebration, our friends mentioned they didn’t know what to expect when they arrived. Would this be a sad event? They wondered if you could celebrate a “rare disease”. Our celebration gave everyone an opportunity to ask questions that they were once too shy to ask or didn’t know to ask . The celebration provided a safe space to ask about Jules’ differences. For example, why doesn’t Jules talk or why does she jargon so loud? Why does she crinkle her fingers by her face when she is smiling? Will she ever talk? Does she understand what we are saying to her? Can she read? I was able to tell them that I didn’t know the answers to all their questions. Unfortunately, the OCNDS community knows very little about the syndrome. However, we are determined to find answers. Earlier this year, we formed CSNK2A1 Foundation to fund research to unlock the mysteries of OCNDS.
Rare Disease Day was especially important for our neurotypical 7-year-old son, Jasper . Jasper loves Jules very much. He worries about her. He worries she may never talk. He frequently asks how she will live on her own as an adult. He doesn’t know how to share her differences with others. Rare Disease Day gave him an opportunity to put his worries aside and celebrate Jules as she is. He wore our foundation t-shirt, CSNK2A1 Foundation, to school. His friends and teachers asked him about it. He proudly responded that his sister has a rare genetic disorder that makes it difficult to talk*. He had such a positive day; he wants to do it again! Jasper was able to talk about his sister in away he never could before. He felt accepted and heard. That t-shirt represents hope that the foundation can find treatments to alleviate her symptoms. He has hope that being an adult can be easier for Jules and others with OCNDS.
Word spread throughout our community that we had this event. Our friends and neighbors used the event as an opportunity to ask us questions about Jules’ condition and our corresponding foundation. People don’t often know how to ask or start a conversation. Rare Disease Day opened opportunities for all of us to learn . I even received several calls from families to ask about starting her their own foundations for the rare genetic disorders that have unexpectedly become a part of their lives.
It is impossible to get Jules to smile for pictures. But, on this day, there seemed to be a huge shift for Jules. As we were taking the group photo, I whispered to her, “Everyone is here for you – to celebrate you. We all love you so much.” She hugged me tightly and smiled brightly. I never expected her smile to be caught on camera. To my surprise, in every group photo she has a huge smile. In every single picture she beams with happiness. She can’t tell me how she was feeling at that moment. But I hope she felt accepted. I hope she felt loved. I hope she felt seen. I hope she felt part of our community. This is what any mom wants for her child . Now that the party has ended and Rare Disease Day has past, the real work begins: making sure she has the opportunity to feel this way every day and not just on Rare Disease Day. But don’t worry we are already planning next year’s party.

Back to work!

Our Journey to Diagnosis and Hope for the Future

Wed, 28 Feb 2018 11:20:00 GMT

Learning and Advocacy for Our Children For parents of children with rare diseases, we are in a constant state of learning. We experience the joy of learning about this amazing new baby in our lives. We learn our child has differences from other children. We learn about those differences through a clinical diagnosis that we struggle to associate with our child. Sometimes our instincts tell us the diagnosis isn’t accurate. Now rapidly changing science validates many of our parental instincts with a more accurate diagnosis. We want more families searching for answers and a diagnosis to take advantage of this new science.
Our Road to Diagnosis – Twice My husband and I have watched our nine-year old Jules grow into a happy, spicy, adventurous, clever, and cuddly little girl. She is a lover of all animals, relentless, a budding chef, strategically naughty and constantly moving. But while the average nine year old has a vocabulary of 7000 words, Jules has a vocabulary of about 200 words.
At 15 months old, Jason and I began to be concerned. Jules stopped making eye contact. No words were coming. Like so many proud parents, we have video of our 9 month old. You can hear our comments in the background, “Wow, look at how much she jargons. She is going to be an early talker.” But we were wrong. Words never came- just more complex, louder jargon. We made an appointment to see a developmental pediatrician and many other specialists. By age two, Juliet was diagnosed with Pervasive Developmental Disorder – Not Otherwise Specified (“PDD-NOS”) which is on the autism spectrum. We entered a new ecosystem of new doctors, specialists and terminology.
In 2010, we took advantage of the genetic testing that was available at the time. We built a robust team of therapists providing 25 hours a week of early intervention in our home. We joined a local community of parents whose children had also received an autism diagnosis. But we noticed our Jules was presenting differently from these children as well. For so many with autism, routines are key. Often children on the spectrum prefer quiet places and predictable environments. But for Jules, louder is better; the more activity in her surroundings the better. She loves to travel. She loves to go on airplanes. She loves the circus, Disney on Ice and Monster Jam.
Advocacy and Trusting Your Instincts We noticed these differences and continued to press the medical experts for better answers. Meanwhile “Whole Exome Sequencing” (WES) became available to us locally at UCSF. We brought Jules to see what we could learn from this powerful new genomic technique. Since 2010 and Jules initial diagnosis of PDD-NOS, the field of genetics has grown with new discoveries all of the time. But in July 2016, came the discovery we were waiting to hear. Dr. Wendy Chung and Dr. Volkan Okur from Chung Lab at Columbia University identified a de novo genetic mutation of the CSNK2A1 gene on Chromosome 20 causing Okur-Chung Neurodevelopmental Syndrome (OCNDS). Not long after with a simple blood test, UCSF was able to narrow Jules’ diagnosis from PDD-NOS to the more accurate OCNDS. There are 3 billion letters that make up the human genome. One very important letter on Jules’ dominant CSNK2A1 gene was misexpressed causing OCNDS. Generally, we are each born with 40-60 mutations. The body typically reads over the “mistakes”. However, this particular gene is believed to be so important that one misexpression is catastrophic to typical neurodevelopment. After I received the second diagnosis, I cried.
I cried because we had an ANSWER . We had a described genetic syndrome that matched Jules’ symptoms.
I cried from RELIEF . For years I had wondered what I did to cause Jules’ condition? Everyone tells you that it isn’t your fault. But I always wondered if I should have done something differently during pregnancy? Should I have had one less beer in college? It was a relief to know I could not have prevented this from happening.
I cried because we had a COMMUNITY . However small, we had a like community of parents and children who were on a similar journey.
I cried because I had HOPE . I emailed Dr. Chung immediately to talk about what we could do to further OCNDS research and how we could best support individuals with OCNDS. During our first call, Dr. Chung was responsive, kind, compassionate, and thoughtful. She suggested we form a nonprofit organization for our community. And we did. In January of this year, we answered our call to action and launched CSNK2A1 Foundation to focus on finding a cure for OCNDS and ensuring affected individuals have the opportunities and supports necessary to live full and happy lives. Dr. Chung and Dr. Okur serve on our Scientific Advisory Board and have been instrumental in advising our Board of Directors on our scientific objectives for 2018-2020.
This is an exciting time for genetics and rare disease research. With Crispr and many other scientific advances, we have a chance to cure OCNDS. And until we do, through research and collaboration we can develop a standard of care for those with OCNDS. In addition, there is a possibility we could discover drug therapies to alleviate OCNDS symptoms. We want children with OCNDS to live their best lives. We believe an accurate diagnosis is the first step of many.

By sharing our family’s journey, our hope is that someone who has an autism spectrum diagnosis that was once or is non-verbal/minimally verbal considers speaking with their doctor about Whole Exome Sequencing. WES is responsible for identifying many genetic conditions causing autism. Not everyone with OCNDS will be diagnosed with autism. But it is possible that there are other individuals like Jules out there. Families and individuals, like us, looking for answers, relief, community and hope.

Spotlight on Rhiannon Cramer

Wed, 28 Feb 2018 11:14:00 GMT

Rhiannon Cramer is the head liaison for the closed OCNDS Facebook group. She created the Facebook group in 2016 to help families connect after her daughter, Cordelia, was diagnosed with OCNDS. Cordelia was the one of original five children identified in the first published research paper describing OCNDS. We are grateful to Rhiannon for connecting our community and creating a place where we can share ideas, ask questions, celebrate successes and seek support.

2/28/18 is Rare Disease Day

Wed, 28 Feb 2018 11:12:00 GMT

2/28 is Rare Disease Day

We are officially Friends of Rare Disease Day .

We are having our first event to celebrate Rare Disease Day and bring awareness to OCNDS in California.

Welcome!

Wed, 21 Feb 2018 11:17:00 GMT

Never doubt that a small group of thoughtful, committed citizens can change the world;

indeed, it’s the only thing that ever has.

Welcome! We found each other. FINALLY! Some of us have waited years for a diagnosis – a name to describe the condition that has affected our children, a name of a disorder that has silenced many of our children’s voices.
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OCNDS)
Now, finally, we can build our community. We are no longer alone searching in the late hours of the night, typing into a web search different symptoms that affect our children to find something, anything to give a name to what they are experiencing. We are no longer alone. We have each other. Our children are no longer alone. They have other children waiting to meet them that are just like them. We will be each other’s best teachers and best listeners.
We have come together to build this community to support our families and bring funding to new research. We welcome your stories and suggestions to create the kind of support community that will serve a wide range of families throughout the world.

Please join us on Facebook at our closed Facebook group for caregivers and providers to connect with our growing OCNDS community. It is a place to ask questions, post pictures, share successes and challenges and connect with other families. We look forward to connecting with all of you!

csnk2a1

Friendship, Redefined: Two Teens, One Rare Genetic Condition

A Rare Disease Story from Colorado

Research Explained: Identification and functional analysis of a novel CSNK2A1 frameshift variant in stillbirth

KK's Story

Sibling Panel Summary: Connect + Collaborate Scientific & Family Conference

Summary by Molly Osborne, CSNK2A1 Foundation Intern

Summary of Topics and Themes Discussed

What a typical day looked like growing up

Growing up with many helpers in the home

How their sibling’s needs impacted daily life

How having a sibling with OCNDS shaped who they are

Friends, classmates, and inclusion

Feeling different from peers

Values, personality, and life lessons

Advice for parents supporting siblings

Looking Ahead

A Year in Review: Highlights of 2025

FOUNDATION OVERVIEW

RESEARCH.

Advocacy & Policy Impact.

AWARENESS.

FUNDRAISING.

FAMILY SUPPORT.

CAPACITY BUILDING & PARTNERSHIPS.

CONCLUSION: Looking Ahead to 2026

Project: Disease Concept Model

Primary Researcher: Grace Branger - Vanderbilt University Medical Center

Grant Details

Aims of Grant

Project Description

Eligibility

Contact

Research Explained: Prenatal Diagnosis of Okur-Chung Syndrome: Ultrasound Findings and Implications of CSNK2A1 and KCNQ5 Variants

Research Explained: Rapid method for evaluation of CK2 enzymatic activity and CK2alpha/CK2beta-interaction in Escherichia coli cell lysates

Glossary

Science Snapshot - Gene Therapy Delivery to the Brain

The Blood-brain Barrier: The Guardian of the Central Nervous System

Methods of Delivery

Direct injection

Into the brain tissue

Into the cerebrospinal fluid

Intravenous injection

Using engineered vectors

Using focused ultrasound

Intranasal delivery

Future Directions

Author Bio

Glossary

References: ﻿

Milestone Monday: Look Out, World—He’s Rising

From Pakistan to Global Partnership: How One Medical Student Helped Inspire a Growing Rare Disease Internship Program

A Conversation with Maahin Manzoor Khan

Early Inspiration

Connecting Through Global Genes

Joining the Foundation

The Power of Global Mentorship

On Access and Opportunity

Looking Ahead

Why Dr. Rushing Believes in Mentorship

A Legacy of Collaboration

Closing Thought

Making a Difference Through Advocacy: My Journey to the Dáil

The Wait is Worth It!

Nicki’s Journey to an OCNDS Diagnosis

Terri’s Journey to Diagnosis

Our Special Homecoming Ask

Science Snapshot - Understanding Side Effects from Medications

Introduction

Definitions:

Real World Example: side effects and psychotropic agents

What should families know?

References: ﻿

Project: Investigating CK2-Mediated Phosphorylation of SYNGAP1 and Its Role in Neurodevelopmental Disorders

Principal Investigator: Heike Rebholz, PhD

Overview

Scientific Background

Specific Aims

Significance

Funding

References:

References:

Real-World Examples

Looking ahead:

References