Project CASK committed $250,000 to a cross-institutional collaboration between Dr. Hans-Jurgen Kreienkamp at UKE Hamburg and Dr. ChangHui Pak at UMass Amherst. Their study targets the CASK-Liprin-alpha interaction in pontocerebellar hypoplasia, testing a compound that may halt cerebellar cell death. A second major therapeutic avenue alongside gene therapy.
Project CASK identified Dr. Mingshan Xue's work at Baylor College of Medicine in 2023 as a critical funding opportunity for CASK gene disorders. In July 2024 we committed $375,000 to fund gene replacement therapy — the largest single grant in Project CASK's history and a potential first disease-modifying treatment for all CASK mutations.
