Nigel Groome Studentship: Using Drosophila to Uncover the Functions of Genetic Variants Linked to Human Disease

Next-generation sequencing has greatly accelerated the discovery of mutations associated with human disease e.g. cancer, but functional studies are necessary to understand their impact. Around 65% of human disease-causing genes have counterparts in the fruit fly, Drosophila. Drosophila provides a powerful, rapid and economical model for testing the function of gene variants located in coding regions, generating results that can be validated in human cells.

The student will employ CRISPR, bioinformatics and state-of-the-art bioimaging to analyze the impact of mutations associated with human disease in Drosophila and human cell lines. The goal is to create an efficient pipeline for rapid, higher-throughput functional analysis.

The initial phase will extend ongoing research at Oxford Brookes characterising mutations in the epigenetic regulators MEN1 (endocrine cancers), NFXL1 (Developmental Language Disorder) and Gro/TLE1-4 (various cancers, including blood, lung, breast and pancreatic).

The School of Biological and Medical Sciences is home to over 30 research groups and provides a friendly and supportive environment for PhD students.

Barbara Jennings will direct the functional studies in Drosophila, while Korneel Hens will support the design of CRISPR strategies and bioinformatics. Kate Lines will contribute her experience of working with disease causing gene variants in mammalian models including MEN1. As a close collaborator, Dianne Newbury (University of Oxford) will contribute her experience of working with NFXL1 and support bioinformatic analyses in mammalian models.

The project will also be supported by staff in the Oxford Brookes Centres for Functional Genomics, and Bioimaging.

The studentship requires you to undertake the equivalent of up to 6 hrs of teaching per week on average, during semester time, and to include preparation and marking (but no more than 20 hrs per week), and to participate in a teaching skills course without further remuneration.