Project Code
NMH27Ba Licchesi
Project Type
Wet lab
Research Theme
Neuroscience and Mental Health
Project Summary Download
Summary
Rare genetic variants are a major cause of neurodevelopmental disorders, including autism, epilepsy and intellectual disability, yet the underlying disease mechanisms remain poorly understood. This multidisciplinary project will investigate how disease-associated mutations disrupt the function of an essential E3 ubiquitin ligase involved in protein quality control and cellular proteostasis during brain development. Using structural biology, quantitative proteomics, human iPSC-derived neurons and zebrafish disease models, the student will uncover how genetic variation leads to neurological dysfunction. Functional consequences will also be assessed using advanced imaging and multielectrode array technology, providing new insights into rare neurological disorders and variant interpretation.
Can the project be completed part time?
No
Lead Supervisor
Dr Julien Licchesi
Lead Supervisor Email
University Affiliation
University of Bath
