Bioinformatician - Disease Gene Discovery - Inherited Mitochondrial Diseases

The University of Cambridge wishes to appoint a talented postdoctoral research associate in bioinformatics and computational biology to join a team of clinical, laboratory and computational scientists in the research groups of Prof Patrick Chinnery, Prof Rita Horvath and Dr Jelle van den Ameele at the Department of Clinical Neurosciences and the MRC Mitochondrial Biology Unit. The post holder will lead an exciting project to discover new genetic causes for mitochondrial diseases using novel computational approaches including A.I. and Bayesian statistical methods applied to genome wide datasets in families with incurable inherited disorders. Mitochondrial disorders affect ~1/5000 people but the genetic cause remains unknown in ~1/3 of families. The aim of this project is to discover new disease genes in undiagnosed patients from whole genome long and short-read datasets, bulk and single-cell RNAseq data, proteomic and metabolomic data. The post-holder will play a pivotal role co-ordinating and analysing new data as part of large genomics projects (100k genomes project, UK Biobank, NIHR Bioresource, International Centre for Genomics Medicine in Neuromuscular Diseases) and perform an integrated analysis incorporating systematic phenotype ontologies to discover and validate new disease genes, linked to down-stream functional analyses. The findings will cast light on disease mechanisms, reveal new treatment targets and immediately impact patient care. This role provides a unique opportunity to gain access to patient cohorts and clinical data alongside leading genomic technologies in the Cambridge cluster, and to work closely with other bioinformaticians, laboratory and clinical scientists in the University, Wellcome Sanger Institute, and the EMBL-European Bioinformatics Institute. We anticipate this work will lead to high-profile publications based on our track-record: Nature Str Mol Biol 2026 PMID: 41922875; Science 2025 PMID: 41066576; Nature Medicine 2024 PIMID 8745010; Nat Comm 2023 PMID: 36823193, Cell 2023 PMID: 36827974; Nature 2022 PMID: 36198798. Candidates are expected to be independent, highly motivated, and keen to work collaboratively with wet-lab and computational biologists within and outside the research groups. In addition to their own research, there will be opportunities for training and career development, and supervision of junior researchers. The role will be located within the MRC Mitochondrial Biology Unit housed in the Wellcome Trust/MRC Building on the Cambridge Biomedical Campus, with state-of-the-art facilities available to group members, including computational resources (i.e. access to HPC facilities, a Linux cluster and storage). The lab and the wider University of Cambridge are committed, in their pursuit of academic and research excellence, to a pro-active and inclusive approach to equality, which supports and encourages all under-represented groups, promotes an inclusive culture, and values diversity. Flexible working and working from home arrangements will be considered. The University particularly encourages women and candidates from Black, Asian and Minority Ethnic backgrounds to apply. Lab websites: Horvath Group: https://www.horvathlab-cam.co.uk/ MRC MBU Research groups: https://www.mrc-mbu.cam.ac.uk/research-groups Cambridge Clinical Mitochondrial Research team: https://www-neurosciences.medschl.cam.ac.uk/mitocamb/ MRC MitoCluster: https://nmgn.mrc.ukri.org/clusters/mitochondria/ Fixed-term: The funds for this post are available for 24 months (2 years) in the first instance, with the possibility of extending beyond this. For informal inquiries, please contact Rita Horvath (rh732@cam.ac.uk). Click the 'Apply' button below to register an account with our recruitment system (if you have not already) and apply online. Please ensure that you upload a covering letter and CV in the Upload section of the online application. The covering letter should outline how you match the criteria for the post and why you are applying for this role. If you upload any additional documents which have not been requested, we will not be able to consider these as part of your application. Please include details of your referees, including email address and phone number, one of which must be your most recent line manager. Please quote reference RR50481 on your application and in any correspondence about this vacancy. The University actively supports equality, diversity and inclusion and encourages applications from all sections of society. The University has a responsibility to ensure that all employees are eligible to live and work in the UK.