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
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 300 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 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
Symptom Checker
CSNK2A1 Foundation and Probably Genetic partner to provide genetic testing for undiagnosed individuals.
Our Impact By The Numbers
Numbers Updated Quarterly
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Chief Science Officer (CSO)
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