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.
Okur-Chung Neurodevelopmental Syndrome is a rare genetic disorder 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 120 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
- There is not a definitive cure for OCNDS yet