For Researchers

CASK Research UK is part of a global partnership called the CASK Coalition funding and assisting research into CASK disorders. CASK Coalition organisations are currently based in Australia, USA, France and the UK.  As a coalition we are currently working with scientists in Asia, Australia the USA and Europe, including Italy, Germany and the UK. 

We are always delighted to hear from clinicians or researchers interested in CASK gene disorders. Please get in touch.

We urgently need more research into CASK gene disorders

Hope for CASK

The CASK community have their very own patient registry!

CASK gene registry

We have made it easy for scientists to research CASK disorders because our community are registered with RARE-X, an accessible data collection programme. As well as demographic data, caregivers have completed numerous detailed surveys on related conditions including epilepsy and sleep. More information for researchers can be found here.

Sign up to kick-start or turbo-charge your CASK journey.

News from 2023

Data from the CASK community is was used in the Xcelerate RARE: A Rare Disease Open Science Data Challenge and in an abstract created for the 2024 BPNA conference.

We reached over 100 participants in the RARE-X registry!

What we fund

We fund ground-breaking research to improve the lives of people with CASK gene related conditions and to understand more about this critical gene.

This is led by our research strategy, with the most promising projects selected using rigorous peer review by our Research Review Committee.

We are open to considering collaborations with international institutions. Where no funding is available we will work with the institutions to apply for grants from external sources.

No grants currently available

Applying for grants to research CASK gene disorders

New projects will be assessed against our project selection criteria to ensure we focus on activities that make the best use of our funds. All new projects must fall within the scope of our purpose and must pass an internal triage before progressing through the stages listed below. We follow the recommendations of the AMRC (Association of Medical Research Charities). Our research strategy is led by international professionals, key opinion leaders working in the field and those personally affected by CASK gene related disorders. All grant applications must match at least one of the criteria.

Peer review process

We award our funds through a peer review process since this is recognised as best practice in awarding research grants, with each application requiring over £20,000 of funding subject to review by independent experts in the field.

Useful publications on the CASK gene

Research on CASK is international and growing. We aim to keep our website up to date with the latest research, learnings and news  from the scientific world of CASK gene disorders. Please click here to find out more.

Models database

In 2023 we initiated a project to create a database of research models available for CASK researchers. Please complete this ten question survey if you are a researcher who works with CASK models. This information is vital for us to increase interest in our ultra-rare disease and accelerate the path to a treatment. We hope to add more lines and models to our list with the help of the research community.

Human cell line
  • Knock out
  • chrX: 41,586,906 C>A (hg38); NM_001126055: c.1296+1 G>T;
  • A de novo duplication of 54.9 kb at chromosome Xp11.4, spanning two exons of CASK
  • Created from a patient
  • Location: Karolinska Institutet, Sweden
  • Cost: Shipment costs only
  • Restrictions: material transfer agreement and a collaboration agreement (for now), coming soon: ethical approval in Sweden
  • see publication 
Mouse model
  • CASK floxed
  • loxP sites flanking the first coding exon of the Cask gene.
  • Females are heterozygous and males are wildtype for Cask <tm1Sud>
  • Useful for generating conditional mutations in applications related to synaptic function.
  • Location: Jax labs, USA
  • Cost: $4457 2 pair minimum
  • More information can be found here.