A Year in Review: Highlights of 2025

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 recognized 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.
  

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.