- 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 world-leading scientific research
Our Social Aims
- To support all families via an informative website
- To facilitate annual family meetups in the UK
- To enable families to obtain up to date information regarding the conditions
- We seek funding using a variety of approaches from community fundraising to legacy giving
- We have strict and fair criteria for research proposals and a rigorous review process
- We have a first rate Research Review Committee ensuring only the finest research is conducted
- We take advice from our scientific advisors
- We participate in the annual CASK Awareness day
- We collaborate with other CASK focused charities worldwide
What is the CASK gene?
CASK gene mutations cause two rare genetic conditions of the brain and are normally associated with microcephaly and a small cerebellum:
MICPCH (where the cerebellum and the pons are reduced in size) can have severe life-limiting consequences whilst XL-ID leads to learning difficulties and problems with movement and coordination. Most CASK patients are non-verbal, struggle to learn to walk, and many cannot feed themselves or learn basic life skills. Some suffer severe and frequent seizures that are not responsive to medical therapies.