CASK Research

Research

For Researchers

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

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

CASK Coalition logo

We urgently need more research into CASK gene disorders

We fund research that has the potential to improve the lives of people with CASK gene related conditions.

  • All research must have scope to become translational in nature.
  • 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.
  • Due to scarcity of funds we prioritise seed funding.
Sarah with facepaint
Laura and Thierry with daughters Sarah and Enora

The Directors of CASK Research and Association Enfants CASK France with their daughters Sarah and Enora.

Working together

Because CASK-related disorders are exceptionally rare and resources are limited, we believe that progress depends on openness and cooperation. Collaboration is not simply a preference — it is essential to achieving meaningful outcomes.

Partnership sits at the heart of our strategy. By bringing together researchers, institutions and organisations, and by encouraging the open exchange of knowledge, data and expertise, we can accelerate discovery while making the best possible use of time and funding.

We also play a proactive role in connecting scientists and facilitating access to shared resources, such as cell lines and animal models, to ensure valuable tools are used effectively across the research community.

We strongly encourage transparency and openness in all research partnerships. While we recognise non-disclosure agreements may occasionally be necessary, we are mindful of their potential to restrict information. Where such agreements are used without clear justification and have the effect of limiting collaboration or slowing progress, this will be taken into account in future funding decisions.

Our research selection process

  1. Researchers contact us with their ideas — if the proposed research is within our charitable remit we may invite a full proposal. Alternatively, CASK Research publishes a request for applications.
  2. The proposal is sent to 3–5 independent experts who provide a written peer review.
  3. Applicants are given the chance to read and respond to the external scientific reviewers' comments.
  4. The peer reviews, application and applicant response are sent to the relevant members of our advisory board and the Director of CASK Research. The advisors then make a funding recommendation to the Board of Trustees.
  5. CASK Research trustees take the final decision — based on the recommendations and the research priorities at the time — on whether to fund the proposal.
  6. Grants are reviewed and awarded within four months.

Conflicts of interest

We make every effort to ensure that decisions are fair, objective and transparent. We have a strict conflict-of-interest policy for external reviews, internal reviews and our Board of Trustees.

No grants currently available.

A winding road — the path to treatments
A book — publications on CASK

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.

Recommended reading →

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 work with CASK models — this information is vital for increasing interest in our ultra-rare disease and accelerating the path to a treatment.

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; ethical approval in Sweden coming soon
  • See publication →

Mouse models — 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: $4,457 (2-pair minimum)
  • More information →

Conditional knock-in model

  • lox-stop-lox
  • Currently being developed at Jax labs
  • Contact Jax for more information

Invertebrate — Caenorhabditis elegans

  • Tagged; knock out, knock in, with control line
  • Multiple mutations
  • Location: rocheleaulab.com
  • Cost: shipment costs only. No restrictions.

Invertebrate — Drosophila melanogaster

For CASK fly lines please see Flybase.

Hope