ABOUT PACS1 SYNDROME
Children with PACS1 syndrome will be dependent life-long on caregivers. They have intellectual disabilities, global developmental delays, epilepsy, autism, and significant language impairments. All children with PACS1 Syndrome have the same exact change in the PACS1 gene making it extremely unique and more easily curable relative to other genetic conditions.
Since the PACS1 Syndrome Research Foundation was founded in August 2017, we have funded $800,000 in Research Grants to University of Pittsburgh, Duke, UCSD and NorthWestern University. The research findings indicate that PACS1 Syndrome is caused by a toxic protein produced by the mutated PACS1 gene.The research is focused on finding therapeutic approaches to remove this toxic protein.