Hope. Community. Collaboration. Understanding. Cure.
CSNK2A1 Foundation is 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.
Understanding
Okur-Chung Neurodevelopmental Syndrome
Newly Diagnosed
"In Unity" Annual 2024 Fun Run
October 12th & 13th
JOIN US! Join our worldwide Okur-Chung Neurodevelopmental Syndrome (OCNDS) community on OCTOBER 12TH and OCTOBER 13TH for our IN UNITY Run, Walk & Roll for OCNDS! This event will help raise awareness and fund research for OCNDS, an ultra-rare genetic disease that affects individuals worldwide.
Family Resources
Discover resources to get informed, stay connected, and make an impact. Find out how.
Symptom Checker
CSNK2A1 Foundation and Probably Genetic partner to provide genetic testing for undiagnosed individuals.
Okur-Chung Neurodevelopmental Syndrome is a rare genetic syndrome first identified in 2016.
OCNDS is caused by a mutation in the CSNK2A1 gene which is located on Chromosome 20. The gene CSNK2A1 creates a protein called CK2 which plays a crucial role in development. A mutation in this gene disrupts typical development.
- Everyone with OCNDS has some degree of developmental delay and/or differences in brain function
- More than 240 patients worldwide have been diagnosed with OCNDS so far. This number is expected to increase with increasing utilization of WES in other regions of the world
- OCNDS is caused by heterozygous mutations in the CSNK2A1 gene on chromosome 20
- OCNDS affects both males and females
- OCNDS is estimated to have an incidence (pop-up definition: the newly identified cases of a disease or condition per population at risk over a specified timeframe) of 1 in 100,000 meaning that for every 100,000 babies born, 1 will have OCNDS. This data is derived from a publication extrapolating the relative incidence of rare diseases vs. others with known incidence (ncbi.nlm.nih.gov/pmc/articles/PMC9687899). The data for the CSNK2A1 gene is located in the supplemental tables
- There is not a definitive cure for OCNDS yet
- Find answers to common questions asked by OCNDS families here
- Review our Clinician one-pager for quick facts about OCNDS here
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