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, Dr Jelle van den Ameele and Dr Katherine Schon, at the Departments of Clinical Neurosciences, Medical Genetics and the MRC Mitochondrial Biology Unit. The group was recently awarded a £7.5 million LifeArc Translational Rare Disease Centres Award to lead the establishment of the LifeArc Centre for Rare Mitochondrial Diseases. Over the next 5 years, with our partners at UCL, the University of Newcastle, the Lily Foundation and MDUK, we aim to establish a national platform to translate novel treatment strategies and biomarkers into clinical trials for mitochondrial diseases. The post holder will join 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 1/8000 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 (nanopore) 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, and the 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. The team publishes high-profile publications including: Cell 2023 PMID36827974; Nature Commun 2023 PMID36823193; Nature 2022 PMID36198798; Nature Commun 2022 PMID35468895; Brain 2022 PMID 34791078; BMJ 2021 PMID 34732400; Nature Genetics 2021 PMID34002094; Nature Medicine 2021 PMID34426706; EMBO J 2020 PMID33128823; eLife 2019 PMID31513013; Science 2019 PMID31123110. 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 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: MRC MBU Research groups: https://www.mrc-mbu.cam.ac.uk/research-groups Cambridge Clinical Mitochondrial Research team: https://mitocamb.medschl.cam.ac.uk/ MRC MitoCluster: https://nmgn.mrc.ukri.org/clusters/mitochondria/ For informal enquiries, please contact Patrick Chinnery ( pfc25cam.ac.uk ), Katherine Schon ( ks339cam.ac.uk ), Rita Horvath ( rh732cam.ac.uk ), or Jelle van den Ameele ( jv361cam.ac.uk ). Fixed-term: The funds for this post are available for 3 years in the first instance 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. Closing date: 30th April 2025 Interview date: 23rd May 2025 Please quote reference RR45563 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. Further information Further Particulars Apply online