PhD Studentship: Rare variant functional genomics for better understanding, prevention and treatment of musculoskeletal disorders

Overview

The University of Exeter, through its Department of Clinical and Biomedical Sciences, offers a PhD studentship focusing on rare variant functional genomics for the prevention, understanding, and treatment of musculoskeletal disorders. These disorders, which include conditions like osteoarthritis and Dupuytren’s contracture, affect millions of individuals in the UK. While genome-wide association studies have linked many common genetic variants to these conditions, identifying exact causal variants remains difficult. This project centers on analysing millions of individuals across diverse ancestries using whole genome sequencing and medical record data to pinpoint rare genetic variants and functionally characterise them in relevant tissues.

Requirements

The studentship is structured across two integrated phases involving two research environments. Phase one takes place computationally at the University of Exeter, where the student defines disease phenotypes using datasets from biobanks like UK Biobank, Our Future Health, and All of Us, and applies advanced bioinformatic pipelines and statistical modeling. Phase two occurs experimentally in the laboratory at the University of Oxford, where the student uses functional genomics tools such as CRISPR-Cas9 gene editing, transcriptomics, and cellular phenotyping across primary human cells, ex-vivo tissue, and humanoid robotic bioreactors to validate candidate genes.

What you get

The funding for this studentship covers Home tuition fees alongside a Doctoral Stipend for a duration of up to four years. The position provides access to high-performance computing infrastructure and biobank resources at Exeter, as well as state-of-the-art molecular biology laboratories and patient tissue biobanks within the Musculoskeletal Cluster at Oxford.

Key dates

The closing date for applications is 2027-01-05.