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

Project Code

MRCNMH26Br Hodge

Project Type

Wet lab

Research Theme

Neuroscience and Mental Health

Project Summary Download

Summary

CASK is a synaptic scaffolding molecule and kinase with mutations causing brain and behavioural defects including severe learning difficulties, movement and sleep disruption as well as epilepsy. You will be trained to generate fly and cellular models of CASK disease characterising them using cutting-edge molecular genetics, bioinformatics, behaviour, electrophysiology, optogenetics, imaging, modelling and pharmacology. You will work with our clinical team and patient groups generating human CASK clinical and molecular data identifying new mutations and phenotypes which you can then study in your pre-clinical models allowing you to test novel genetic and pharmacological treatments, prior to follow-on clinical trials.

Lead Supervisor

Professor James Hodge

Lead Supervisor Email

james.hodge@bristol.ac.uk

University Affiliation

Bristol