Translational research for CASK-related disorders

Awardee: Dr. Mingshan Xue

Institution: Baylor College of Medicine

Grant Amount: $375,000

Summary: There is an urgent need to develop new therapeutics that can broadly and effectively improve neurological function in people with CASK-related disorders, both female and male. The objective of Dr. Xue’s research is to develop robust mouse models and genetic therapies for CASK-related disorders. The funding from Project CASK will support the early phase of this translational research program, with the ultimate goal of moving toward proof of concept for a gene replacement therapy for CASK-related disorders. This funding is to support (i) the development and characterization of at least one neurobehavior model and (ii) the optimization of the gene therapy approach and initial testing on epilepsy phenotypes, with the understanding that both male and female models will be supported through this funding.