CSNK2A1 Foundation

CSNK2A1 Foundation

Okur-Chung Neurodevelopmental Syndrome (OCNDS) is an ultra-rare genetic condition caused by variants (mutations) in the CSNK2A1 gene. These variants disrupt normal development and lead to symptoms that can vary widely between individuals. Common features include developmental and intellectual delays, speech and motor impairments, seizures ranging from isolated events to intractable epilepsy, low muscle tone (hypotonia), sleep difficulties, slow growth or short stature, and autism spectrum traits with associated behavioral challenges. At present, there are no disease-specific treatments or cures for OCNDS, and medical care is focused on managing symptoms. In most cases, the gene change occurs spontaneously (de novo), but inheritance in an autosomal dominant pattern has been observed.

The CSNK2A1 Foundation is the only patient advocacy organization devoted specifically to OCNDS. We strive to find a cure for Okur-Chung Neurodevelopmental Syndrome while also ensuring that affected individuals and their families have the supports and opportunities necessary for full, meaningful lives. The foundation funds pilot research grants and provides a comprehensive research toolbox. Available resources include four mouse models, nine induced pluripotent stem cell (iPSC) lines (five with isogenic controls), four fibroblast lines, 7 drosophila lines, and access to genetic and phenotypic data through Simons Searchlight.

Patient Advocacy Group