Nuestro trabajo
Qué hacemos
La Fundación de Investigación CASK es una organización benéfica del Reino Unido cuya misión es promover avances médicos para mejorar la vida de las personas con trastornos genéticos CASK.
Fundada en 2022 por una madre británica, hemos recaudado más de 100 000 libras para la investigación sobre el gen CASK y los trastornos relacionados con CASK, y reclutó más de siete universidades para estudiar CASK por primera vez.
Nuestras actividades
- We invest in high-quality research projects internationally such as the CURE CASK project, as well as pioneering work in UK's leading universities.
- We coordinate the UK's patient registry for CASK-related disorders in collaboration with the University of Bristol. This will be essential to delivering clinical trials and campaigning for treatments to be approved here in the UK.
- We work with clinicians to develop best-practice guidelines.
- We provide families with health information and resources.
- We host an annual UK family meet.
- We provide online workshops and up-to-date information via our website, social media platforms and online socials.
- We advocate for treatment for CASK-related disorders.
Necesitamos tu ayuda para seguir con nuestro trabajo. Ponte en contacto con nosotros — [email protected].
Nuestros objetivos
- To make grants available to enable scientists to study the CASK gene and its related disorders
- To form partnerships with other charitable organisations
- To promote collaboration between CASK scientists around the world
Nuestro enfoque
- We seek funding using a variety of approaches from community fundraising to external grants.
- We have strict and fair criteria for research proposals and a rigorous review process.
- We have a first-rate Scientific Advisory Board ensuring only the finest research is conducted.
- We are part of the CASK Coalition — a group of like-minded organisations who prioritise working together to try to find treatments for individuals with a CASK disorder.
Hitos clave
Mutations in the CASK gene are associated with an X-linked brain disorder.
CASK Research Foundation is founded.
Recruited RARE-X as the global CASK Data Collection Program and initiated recruitment.
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 £22,000 to the $111,000 CURE CASK project.
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.
Dr Xue unveils promising work on a gene-replacement therapy for CASK disorders.
The CASK Coalition is established — founding members are CASK Research Foundation, Cure CASK Australia and Association Enfants CASK France.
£40,000 gifted to Bristol to continue their work to create a drug-screening model for CASK disorders.
The first ever CASK charity-initiated study is published in the Journal of Neurodevelopmental Disorders, co-authored by our founder Laura Hattersley.
ProCASK Italia and CASK Luxembourg become members of The CASK Coalition.
Dr Xue is awarded The Oxford-Harrington Rare Disease Scholar Award for his work on developing a gene-replacement therapy for CASK-related disorders.
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.