University of Cambridge
Bioinformatician - Disease Gene Discovery - Inherited Mitochondrial Diseases
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Postdoctoral Research Associate in Bioinformatics and Computational Biology
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.
About the Role
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.
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Responsibilities
- Lead an exciting project to discover new genetic causes for mitochondrial diseases.
- Use novel computational approaches including A.I. and Bayesian statistical methods applied to genome wide datasets.
- Coordinate and analyse new data as part of large genomics projects.
- Perform integrated analysis incorporating systematic phenotype ontologies to discover and validate new disease genes.
- Work closely with other bioinformaticians, laboratory and clinical scientists.
Requirements
- Independent, highly motivated, and keen to work collaboratively with wet-lab and computational biologists.
- Opportunities for training and career development, and supervision of junior researchers.
Working Conditions
- The role will be located within the MRC Mitochondrial Biology Unit housed in the Wellcome Trust/MRC Building on the Cambridge Biomedical Campus.
- 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.
- Flexible working and working from home arrangements will be considered.
How to Apply
For informal inquiries, please contact Rita Horvath (rh732@cam.ac.uk).
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- Include details of your referees, including email address and phone number, one of which must be your most recent line manager.
- Quote reference RR50481 on your application and in any correspondence about this vacancy.
Additional Information
- 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.
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/
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