MRC Human Genetics Unit
Medical Research Council Human Genetics Unit

Identifying damaging mutations in ubiquitin signalling proteins

Dr Joe Marsh

Marsh research 1

Supervisors: Grzegorz Kudla, Danny Huang (Beatson)

Mutations of signalling proteins can cause various genetic disorders and contribute to cancer, yet our ability to predict the damaging effects of mutations is extremely limited. In this integrative project, the student will learn both experimental and computational techniques, combining bioinformatics, molecular modelling, saturation mutagenesis, deep sequencing and structural biology. This will allow us to elucidate the molecular determinants of disease-causing mutations in proteins associated with ubiquitin signalling. Ultimately, the goal is that these detailed studies will help us to better understand why computational phenotype predictions often fail, and facilitate the development of improved predictive models.