Project CASK Commits $250,000 to Small Molecule Treatment Research for CASK Gene Disorders

Project CASK Commits $250,000 to Small Molecule Treatment Research for CASK Gene Disorders

Project CASK is pleased to announce a $250,000 grant commitment over two years to Dr. Hans-Jurgen Kreienkamp at the University Medical Center Hamburg-Eppendorf and Dr. ChangHui Pak at the University of Massachusetts Amherst, to identify and test small molecule drug candidates for CASK gene disorders.

The study, titled 'The Role of the CASK/Liprin-alpha Interaction in Pontocerebellar Hypoplasia: A Translational Approach,' focuses on deepening understanding of the interaction between CASK and Liprin-alpha, which appears to affect the survival of cerebellar granule cells. The research team will test a compound that may replicate CASK's regulatory functions, potentially halting cell death and improving neurological outcomes in patients with CASK gene disorders.

Small molecule treatments offer a different therapeutic pathway than gene therapy. While gene replacement therapy targets the genetic root cause, small molecules can potentially modulate the downstream effects of CASK loss — providing an additional avenue toward treatment, particularly for patients who may not be candidates for gene therapy approaches.

Project CASK facilitated the Kreienkamp-Pak collaboration, connecting two researchers who had not previously worked together directly. This partnership has since produced a full-spectrum research pipeline from biochemical analysis to cell lines and organoids, fast-tracking the identification and testing of potential therapeutic targets.

This grant was guided by Project CASK's global Scientific Advisory Board and represents a second major therapeutic avenue investment within the Global CASK Therapeutic Roadmap. With both gene replacement therapy and small molecule research now underway, Project CASK is pursuing multiple independent paths toward treatments for CASK gene disorders.

About Dr. Hans-Jurgen Kreienkamp

Dr. Hans-Jurgen Kreienkamp is a researcher at the University Medical Center Hamburg-Eppendorf (UKE Hamburg), where his laboratory studies the molecular biology of synaptic proteins including CASK and its interaction partners.

About Dr. ChangHui Pak

Dr. ChangHui Pak is a researcher in the Department of Biochemistry and Molecular Biology at the University of Massachusetts Amherst. Her laboratory develops human stem cell-based models of neurodevelopmental disorders to understand disease mechanisms and test therapeutic approaches.