SPTBN1 Research Fund

Our team is dedicated to investigating the disease mechanisms of SPTBN1 syndrome, a neurodevelopmental disorder caused by genetic variants in the SPTBN1 gene, which encodes βII-spectrin. SPTBN1 syndrome is the newest identified “spectrinopathy” of the nervous system—a group of neurological disorders linked to genetic variants in spectrin genes (learn more here).

This rare disorder typically emerges in infancy and its symptoms can vary in clinical presentation and severity. Most individuals are affected by global developmental delay and intellectual disability. Other common presentations include autism spectrum disorder (ASD), ADHD, epilepsy, and motor deficits (learn more here).

Your generosity can help us drive groundbreaking research and explore therapeutic strategies, and ultimately improve the lives of those affected by this disorder. Every contribution accelerates our goal to find answers and offer hope to those affected.

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