FUNDED RESEARCH
Project CASK has awarded grants to the following CASK research programs
Project CASK would like to thank all of the donors who have made these grants possible. Thank you to parents around the globe, who have worked tirelessly to raise these funds. We are grateful for our Scientific Advisory Board and the scientific reviewers who assessed the many grant applications and saw merit in these awardees. We are indebted to the awarded scientists for their deep commitment to identifying treatments for CASK. And we thank our leadership team for working hours on end in pursuit of treatments and a cure for our cherished Liocorn CASK loved ones.
You all, give us hope.
Gene replacement therapy research for CASK-related disorders
Dr. Mingshan Xue
Baylor College of Medicine
$375,000 two-year grant
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.
Learn more about Project CASK's grant to Dr. Xue for CASK gene replacement therapy
The grants below are sparking a tectonic shift in the landscape of treatments for CASK gene disorders, but they are just the start.
There is so much more that needs to be done, other treatment strategies to pursue, and clinical and community research initiatives to embark on to get us to treatments for our loved ones.
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The role of the CASK/Liprin-α interaction in pontocerebellar hypoplasia: A translational approach
Dr. Hans-Jürgen Kreienkamp
University of Hamburg
Dr. ChangHui Pak
Umass Amherst
$250,000 two-year grant
This study merges the expertise of two CASK experts who met at the CASK Think Tank organized by Project CASK and the Orphan Disease Center at UPenn in December 2023. It focuses on the interaction of CASK and Liprin-α, which is important for synapse formation and function, and appears to affect the survival of cerebellar granule cells and additional downstream interactions associated with cell death. The PIs hypothesize that a small molecule can replace CASK and thus serve as a therapeutic agent to better support these interactions. This two-year translational research will (i) expand understanding of how CASK regulates Liprin-α and its role in synapse formation and liquid-liquid phase separation (LLPS), (ii) test the role of this interaction in diverse neuronal cell types with CASK missense and loss-of-function mutations, and (iii) evaluate the potential of a small molecule to play the role of CASK thereby preventing or reducing cell death, enhancing brain function, and improving motor coordination and balance.