PACS1 Syndrome Research Foundation
The PACS1 syndrome research foundation is a private foundation dedicated to finding a therapeutic that would alleviate the symptoms of PACS1 Syndrome (also known as Schuurs-Hoeijmakers Syndrome) as quickly as possible. Our research mission will be achieved by actively funding innovative scientific research into PACS1/SHMS Syndrome.
About PACS1 Syndrome
All children with PACS1 syndrome who have been diagnosed to date have global developmental delays and mild to moderate degrees of intellectual disability. Language is more severely affected than motor development, and many individuals with PACS1 have limited speech.
Since the PACS1 Syndrome Research Foundation was started as a private foundation in August 2017, we have funded $420,000 in Research Grants and $52,000 in set-up of the tools (IPSC’s and CRISPR Cell-lines). The research is focused on understanding the consequences of the R203W mutation in the PACS1 protein (PACS1 syndrome/SHMS), and to explore therapeutic approaches to alleviate its deleterious effects.