Category: Newsletters

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.

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.

Join Us for International OCNDS Awareness Day

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.

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!

Q2 | June 2021 IN THE LOOP CSNK2A1 Foundation Quarterly Newsletter

Join us on social media April 5th for International OCNDS Awareness Day. 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. Final Total of Giving Tuesday

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 visit https://www.simonssearchlight.org 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: