Fully funded PhD – Using Drosophila to Uncover the Functions of Genetic Variants Linked to Human Disease

Project Description:

Next-generation sequencing has greatly accelerated the discovery of human disease-related genetic variants. However, understanding how these variants contribute to the disease is challenging and requires functional studies. Around 65% of human disease-causing genes have counterparts the fruit fly, Drosophila. Drosophila provides a powerful, rapid and cost-effective 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 disease-related genetic variants in Drosophila. The goal is to create an efficient pipeline for rapid, higher-throughput functional analysis. The initial phase will extend ongoing research at Oxford Brookes on gene function, focusing on variants in NFXL1 (Developmental Language Disorder), MEN1 (endocrine cancers), and Gro/TLE1-4 (neurodevelopmental disorders and cancer).

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.