Our Work
Key Milestones in CASK Research
The story of CASK research and our global community — from the first description of the CASK gene disorder to today's push towards treatments.
- August 2008
Mutations in the CASK gene are associated with an X-linked brain disorder.
- 2019
The first CASK non-profit is established in the USA, called CASK Gene Foundation.
- August 2020
A second CASK non-profit is established in Australia, now called CURE CASK and a founding member of the CASK Coalition.
- January 2022
CASK Research Foundation is founded.
- July 2022
Association Enfants CASK France (AECF) is created in France, later becoming a founding member of the CASK Coalition.
- August 2022
Recruited RARE-X as the global CASK Data Collection Program and initiated recruitment.
- Nov 2023
Funded investigative gene therapy research — founding members of The CASK Coalition joint-funded Xi activation work at the University of California, Davis. CASK Research contributed £27,000 to the $111,000 CURE CASK project.
- Dec 2023
CASK Research awarded £25,000 to the University of Bristol for a three-year pilot project: developing a translational research platform to understand the function of CASK and develop new drugs.
- January 2024
Dr Xue unveils promising work on a gene-replacement therapy for CASK disorders.
- February 2024
The CASK Coalition is established — founding members are CASK Research Foundation, Cure CASK Australia and Association Enfants CASK France.
- August 2024
A US charity called Project CASK awards $375,000 to Dr Xue’s gene therapy program, with funding starting in 2025. Project CASK is not affiliated with CASK Research Foundation or the CASK Coalition.
- July 2025
The first ever CASK charity-initiated study is published in the Journal of Neurodevelopmental Disorders, co-authored by our founder Laura Hattersley.
- Sept 2025
ProCASK Italia and CASK Luxembourg become members of The CASK Coalition.
- Oct 2025
£40,000 gifted to Bristol to continue their work to create a drug-screening model for CASK disorders.
- Nov 2025
Dr Xue is awarded The Oxford-Harrington Rare Disease Scholar Award for his work on developing a gene-replacement therapy for CASK-related disorders.
- March 2026
CURE CASK project finished successfully with the Halmai and Fink labs announcing success at reactivating the CASK gene in human cells, plus a new discovery in the area of X-linked diseases.
- August 2026
CASK Research, in collaboration with the University of Southampton, initiates the first ever study on male missense mutations, aiming to conduct personalised drug screening.