O nosso trabalho
O que fazemos
A CASK Research Foundation é uma instituição de caridade do Reino Unido cuja missão é promover avanços médicos para melhorar a vida das pessoas com doenças genéticas associadas ao gene CASK.
Fundada em 2022 por uma mãe britânica, já angariámos mais de 100 000 libras para a investigação sobre o gene CASK e as doenças associadas ao CASK, e recrutou mais de sete universidades para estudar CASK pela primeira vez.
As nossas atividades
- 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.
Precisamos da sua ajuda para continuar o nosso trabalho. Entre em contacto connosco — [email protected].
Os nossos 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
A nossa abordagem
- 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.
Principais marcos
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.