Molecular basis of CASK mutations and their role in neural development

Project Code

NMH27Br Corey

Project Type

Other

Research Theme

Neuroscience and Mental Health

Project Summary Download

Summary

This interdisciplinary PhD project will investigate how disease-causing mutations alter the structure and function of CASK, a key protein required for synaptic development, neuronal communication, and brain function. Mutations in CASK cause severe neurodevelopmental disorders, including intellectual disability and microcephaly. The student will combine cutting-edge AI-based protein structure prediction tools, including AlphaFold3, with advanced structural bioinformatics to analyse pathogenic variants, uncover mechanisms of disease, and develop methods for prioritising clinically relevant mutations. The project offers training in AI, computational biology, and neuroscience, providing highly transferable skills for careers in academia, biotechnology, and biomedical research.

Can the project be completed part time?

Yes

Lead Supervisor

Dr Robin Corey

Lead Supervisor Email

robin.corey@bristol.ac.uk

University Affiliation

University of Bristol

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