Bioinformatician - Disease Gene Discovery - Inherited Mitochondrial Diseases in Cambridge

Bioinformatician - Disease Gene Discovery - Inherited Mitochondrial Diseases in Cambridge

Cambridge Full-Time 56535 - 56535 £ / year (est.) No working from home possible
Technical University of Denmark

At a Glance

  • Tasks: Lead groundbreaking research to uncover genetic causes of mitochondrial diseases using AI and advanced computational methods.
  • Company: Join the prestigious University of Cambridge's innovative research team.
  • Benefits: Competitive salary, flexible working options, and opportunities for career development.
  • Other info: Access to state-of-the-art facilities and a commitment to diversity and inclusion.
  • Why this job: Make a real impact on patient care and contribute to high-profile scientific publications.
  • Qualifications: Strong background in bioinformatics and a passion for collaborative research.

The predicted salary is between 56535 - 56535 £ per year.

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: ; Science 2025 PMID: ; Nature Medicine 2024 PIMID ; Nat Comm 2023 PMID: , Cell 2023 PMID: ; Nature 2022 PMID: .

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. The University actively supports equality, diversity and inclusion and encourages applications from all sections of society.

£42,254 to £56,535 per annum

Bioinformatician - Disease Gene Discovery - Inherited Mitochondrial Diseases in Cambridge employer: Technical University of Denmark

The University is an exceptional employer, offering a supportive and collaborative work environment that prioritises employee well-being and professional growth. With the flexibility of hybrid working and generous leave entitlements, including 36 days off, staff are encouraged to maintain a healthy work-life balance while contributing to the academic success of students in the Faculty of History.

Technical University of Denmark

Contact Details:

Technical University of Denmark Recruitment Team

We think you need these skills to ace Bioinformatician - Disease Gene Discovery - Inherited Mitochondrial Diseases in Cambridge

Bioinformatics
Computational Biology
A.I. Techniques
Bayesian Statistical Methods
Genome Wide Datasets Analysis
RNA Sequencing (bulk and single-cell)
Proteomics