Drive for Diagnosis 2024 Golf Classic

IMPACT OF YOUR SUPPORT

Okur-Chung Neurodevelopmental Syndrome (“OCNDS”) is an ultra-rare genetic syndrome first identified in 2016.  In 2016, there were only 5 known patients worldwide.  There was no foundation, no website, no community, no information, and no OCNDS research being conducted.  In 2016, Jennifer & Jason Sills’ daughter was the 6th in the world to be diagnosed with OCNDS.  We are living in a time where conditions once thought to be untreatable are now being treated.  After speaking with academics and researchers, it became abundantly clear that OCNDS could be treated.  In 2018, Jennifer and Jason Sills launched the CSNK2A1 Foundation to fund research to find a treatment and cure for OCNDS, and to provide a place for families to turn for information and support.   

OCNDS is caused by a mutation on the CSNK2A1 gene. OCNDS is characterized by severe speech delay or inability to speak, global developmental delay, epilepsy, autism spectrum disorder traits, behavioral challenges, and feeding difficulty.  OCNDS is a lifelong condition that changes the trajectory of families' lives forever.  Those living with OCNDS have many daily challenges, such as swallowing, toileting, dressing, putting on a seatbelt, and making friends. Their days can consist of hours of different types of interventions, including speech therapy, occupational therapy, feeding therapy, and physical therapy.  Parents and caregivers of OCNDS patients have assumed roles they never imagined.  They are advocates, nurses, champions, therapists, fundraisers, researchers, trailblazers, teachers, and paperwork experts. 

The prevalence is estimated as 1:100,000, which means since its discovery, over 10,000 children have been born with OCNDS. And yet only 219 people have been diagnosed worldwide. Access to health care and social determinants are enormous hurdles to receiving a diagnosis.  Whether it is access to health insurance to pay for testing or getting time off work to go to doctor appointments or traveling long distances for care, there are many obstacles impeding families’ ability to receive a diagnosis.  By partnering with TGen, we are helping children who do not have access to genetic testing. Families are not charged for care and genetic testing at TGen.

We established the CSNK2A1 Foundation Research Program at TGen, the Translational Genomics Research Institute, with your support. TGen is an Arizona-based, nonprofit medical research institute dedicated to conducting groundbreaking research with life-changing results. TGen’s areas of research include cancer, diabetes, neurological disorders, infectious diseases, and rare childhood disorders. Led by Vinodh Narayanan, MD, TGen’s Center for Rare Childhood Disorders (the Center) is a leader in providing critical diagnoses for families and spearheading patient-focused research. For undiagnosed families and children, TGen is their last hope in their diagnostic odyssey, which spans many years and countless visits to doctors and specialists. 

In addition, we have assembled a team of scientists spanning the globe across 6 institutions, many of whom worked on CSNK2A1 before it was associated with OCNDS.  They are sharing data, collaborating, publishing together and meeting once a quarter at our Scientific Roundtable to accelerate the path to treatment.  There is potential for treatment that removes the effect of the genetic mutations on CSNK2A1.  Since our last tournament, we partnered with Unravel Biosciences, a state-of-the-art Biotech company formed by two former Wyss Institute at Harvard University scientists. Using proprietary AI, they identified several FDA approved compounds which they are testing on preclinical models such a frogs and mice in preparation for a clinical trial.  We are putting our foot on the gas on research and racing toward the finish line with a treatment.  Our research program is growing at a rapid rate.  We received a grant from the Chan Zuckerberg Rare as One program in recognition of our work.  Until now, we have run on the blood, sweat, and tears of our volunteers. We are using this grant to hire a Science Program Director whose job it will be to lead us to the finish line.  The time is now. 

Why does funding OCNDS research matter?  The gene CSNK2A1 creates a protein called CK2. CK2 is found in every single cell in our body.  In patients with OCNDS, this protein is disrupted.  We are studying how to restore CK2 functionality in OCNDS patients.  CK2 is also a potential therapeutic target for many diverse human diseases.  A scientific breakthrough for those living with OCNDS may also help millions impacted by various other diseases. CK2 is studied in connection with Parkinson’s, Alzheimer’s, autism, COVID-19, inflammatory diseases, ALS, cystic fibrosis, cancer, and even COVID.