The CACNA1A Foundation works on behalf of diseases caused by mutations in the CACNA1A gene, which is highly expressed in the central nervous system and the cerebellum. CACNA1A is a neurodevelopmental disease that causes epilepsy, movement and coordination disorders, cerebellar atrophy, and hemiplegic migraines, which are stroke-like events that can result in skill regression, coma and brain swelling.
Founder Lisa Manaster’s daughter was diagnosed with a CACNA1A variant in 2017, and her latest MRI indicated cerebellar atrophy. Manaster came to this work for one reason: to find treatments and a cure for her daughter and children like her because their futures depend on it.
As part of the Rare As One Network, the CACNA1A Foundation will use this grant to build a patient-led, global CACNA1A research network to accelerate the understanding, diagnosis and treatment of CACNA1A-linked diseases. The organization aims to ensure researchers collaborate to focus on issues that are of priority to patients and plans to bring everyone together to develop standards of care and targeted treatments.