Postdoctoral Bioinformatician - Genetic Discovery in Inherited Mitochondrial Diseases

Position Overview

The University of Cambridge is seeking a highly skilled postdoctoral researcher specializing in bioinformatics and computational biology to join a collaborative team focused on inherited mitochondrial disorders. This opportunity involves leading innovative research projects aimed at identifying novel genetic causes of mitochondrial diseases through the use of advanced computational tools including artificial intelligence and Bayesian statistics applied to comprehensive genome datasets.

Research Objectives and Activities

Mitochondrial diseases affect approximately 1 in 5,000 individuals, with around one-third of cases lacking a known genetic origin. The primary goal of this role is to uncover new disease genes from undiagnosed patients by analyzing whole genome sequencing data (both long and short-read), bulk and single-cell RNA sequencing, proteomics, and metabolomics data. The postdoctoral bioinformatician will coordinate and perform integrated analyses involving large-scale genomics projects such as the 100,000 Genomes Project, UK Biobank, NIHR Bioresource, and the International Centre for Genomics Medicine in Neuromuscular Diseases. This includes leveraging systematic phenotype ontologies and leading downstream functional validation efforts to elucidate disease mechanisms and reveal potential therapeutic targets, ultimately advancing patient care.

Collaboration and Resources

This research position offers unique access to patient cohorts, clinical datasets, and cutting-edge genomic technologies within the Cambridge scientific community. Collaboration is expected with bioinformaticians, laboratory scientists, and clinicians across the University of Cambridge, Wellcome Sanger Institute, and the EMBL-European Bioinformatics Institute. The role is based at the MRC Mitochondrial Biology Unit located in the Wellcome Trust/MRC Building on the Cambridge Biomedical Campus, providing state-of-the-art facilities, high-performance computing resources, Linux clusters, and extensive storage capabilities.

Candidate Profile

The ideal candidate is a self-driven and highly motivated individual with demonstrated independence in research. They should be enthusiastic about collaborative approaches integrating wet-lab and computational biology. Responsibilities include conducting independent research, mentoring junior scientists, and engaging in career development opportunities.

Commitment to Equality

The University and associated research groups actively support equality, diversity, and inclusion. Flexible working arrangements, including remote work, may be accommodated. Applications are especially encouraged from women and individuals belonging to Black, Asian, and Minority Ethnic backgrounds.

Additional Information

• The position is initially funded for 24 months, with the possibility of extension beyond this period.
• Applicants are required to submit a CV and cover letter outlining their fit for the role and motivation to apply.
• References, including contact details for a recent line manager, must be provided.
• Applicants must be eligible to live and work in the UK.

Contact and Further Details

Informal queries can be directed to Prof Rita Horvath (email withheld for privacy). Reference number for applications is RR50481. More information about the research groups can be found on their respective web pages.