Project CASK Commits $375,000 to CASK Gene Replacement Therapy Led by Dr. Mingshan Xue at Baylor College of Medicine

Project CASK Commits $375,000 to CASK Gene Replacement Therapy

After identifying Dr. Mingshan Xue's research as a critical funding opportunity in 2023, Project CASK committed $375,000 over two years in July 2024 to Dr. Mingshan Xue at Baylor College of Medicine, funding the development of gene replacement therapy for CASK gene disorders.

This investment represents Project CASK's largest single research grant to date and is directed toward developing a disease-modifying treatment for both female and male patients with CASK-related disorders, including Microcephaly with Pontine and Cerebellar Hypoplasia (MICPCH) and X-linked intellectual disability (XLID).

CASK is a critical gene located on the X chromosome, central to brain development. Mutations in the CASK gene cause two primary disorders: MICPCH, a severe neurodevelopmental condition characterized by microcephaly and cerebellar abnormalities, and X-linked intellectual disability, a milder phenotype. Currently, fewer than 600 families are diagnosed worldwide and there are no approved treatments for either condition.

Dr. Xue's laboratory at Baylor College of Medicine has been investigating the molecular mechanisms of CASK disorders and developing viral delivery strategies for gene replacement. Project CASK identified his research as a critical funding opportunity and committed capital to accelerate his preclinical work at a moment when institutional funding timelines would have caused significant delays.

This grant was guided by Project CASK's global Scientific Advisory Board and represents a core investment within the Global CASK Therapeutic Roadmap — a coordinated strategy to advance multiple therapeutic approaches toward treatments and a cure for CASK gene disorders.

About Project CASK

Project CASK is a parent-led 501(c)(3) nonprofit and the largest single parent advocacy funder of CASK gene disorder research globally. Founded by parents who refused to wait, Project CASK funds gene therapy, iPSC research, biorepository development, small molecule treatments, and natural history studies through a Global Therapeutic Roadmap guided by an independent Scientific Advisory Board.