Towards a better understanding and treatments for the rare genetic brain disorder called CASK

Project Code

MRCNMH25Br Hodge 

Research Theme

Neuroscience and Mental Health

Project Summary Download

Summary

CASK is a protein found at synapses between neurons in the brain. Human mutations cause brain and behavioural problems including severe epilepsy, sleep, movement and learning disabilities. You will be trained to generate fly and cell-based models of CASK disease characterising them using cutting-edge molecular genetics, behaviour, electrophysiology, imaging, computational modelling and pharmacology. You will work with our clinical team and patient groups generating human CASK molecular and clinical data identifying new mutations and symptoms which you will then study using your fly and cell models allowing you to test novel genetic and drug treatments, prior to follow-on clinical trials.

Lead Supervisor

Professor James Hodge

Lead Supervisor Email

james.hodge@bristol.ac.uk

University Affiliation

Bristol