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.
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Okur-Chung Neurodevelopmental Syndrome (OCNDS) (OMIM # 617062) is a rare genetic disorder first identified in 2016. Everyone with OCNDS has some degree of developmental delay and/or differences in brain function
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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
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OCNDS is caused by heterozygous mutations in the CSNK2A1 gene on chromosome 20
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OCNDS affects both males and females
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There is not a definitive cure for OCNDS yet
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You can connect with families via their Facebook group page
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You can find answers to Common Questions here
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