A Solvable Problem​

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​​PACS1 syndrome is a rare neurodevelopmental disorder caused by a single-point mutation in the PACS1 gene. Children with PACS1 syndrome have a wide range of clinical phenotypes and experience global developmental delays, intellectual disability, epilepsy, autism, and significant language impairments. These challenges are lifelong, and individuals will require ongoing support and care throughout their lives. Our Scientific Advisory Board believes PACS1 syndrome is a solvable problem. Almost every child with PACS1 has the exact same genetic mutation, which is very rare in human disease. This means a treatment that works for one patient is likely to work for all, making PACS1 syndrome a uniquely promising target for scientific breakthroughs.​