New Study! Researching missense mutations in boys — personalised drug screening to find treatments

We are excited to announce a new research collaboration with the University of Southampton to investigate potential treatments for boys (and girls) with CASK missense mutations.

Missense mutations are changes in a single DNA letter that alter one part of the CASK protein. Unlike variants that completely stop CASK from being produced, some missense mutations leave a partially functioning protein behind. This means there may be an opportunity to find drugs that can improve or restore its function.

The Southampton team will create patient-derived cells from boys with CASK missense mutations and use them to test potential drugs. This personalised approach could allow researchers to identify treatments that work for specific CASK variants and, ultimately, identify drugs that could be developed for wider use.

Why study boys?

The initial study is focusing on boys because they have only one copy of the CASK gene. This makes it easier for researchers to see the effects of a missense mutation without a second, healthy copy of the gene potentially masking some of those effects.

However, the findings could be highly relevant to girls and women with CASK missense mutations too. If a drug is found to improve the function of CASK affected by a particular mutation, it should theoretically also be relevant to females with a missense variant affecting the same location or functional region of the gene.

The potential impact could extend even further. If drugs are identified that improve CASK function within cells, they may also have potential for children with non-functioning CASK copies, although this will need to be demonstrated through further research.

An opportunity for families

The research is initially funded for a limited number of patient-derived cell lines. We are therefore also exploring the possibility for families of boys with CASK missense mutations to self-fund the creation of their child’s cell line, allowing them to contribute to this important research even if their child is not included in the funded cohort.

We believe this study represents an exciting opportunity to move towards personalised treatment for CASK missense mutations, while building knowledge that could ultimately benefit a much wider part of the CASK community.

Find out more about the study, how the personalised drug screening will work, and the self-funding opportunity.