What is CASK Research Foundation and how do we help?

Our objectives

  • 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

Our Approach

  • 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.

About us

Our inspiration, our team, our trustees

Our Research Review Committee

Hope

Learn about our current campaign