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Research Associate (Fixed Term)

University of Cambridge - Department of Clinical Neurosciences

Location: Cambridge
Salary: £32,236 to £39,609 per annum
Hours: Full Time
Contract Type: Fixed-Term/Contract
Placed On: 14th August 2019
Closes: 8th September 2019
Job Ref: ZE20340

The mitochondrial genomics group (Professor Patrick Chinnery and Dr. Rita Horvath) is seeking a research associate in computational biology to join a team of clinical and laboratory scientists who are studying the role of genetic variation and differences in gene expression in in rare inherited neurological diseases, including mitochondrial disorders. The post-holder will play a pivotal role co-ordinating and analysing new data as part of the 100,000 genomes project and the MRC International Centre in Neuromuscular diseases. Both are landmark projects focussed on new disease gene discovery to underpin precision medicine.

Our laboratories study the mechanisms responsible for rare inherited neurological diseases with a particular emphasis on mitochondrial diseases. Our over-arching aim is to develop new treatments for rare inherited neurological diseases using a combination of genomic, cell biology, and informatic techniques on human DNA and tissue samples, and using cell and animal disease models. Understanding the molecular mechanism will reveal tissue specific targets and will provide rationale for developing novel therapies. Both teams published high-profile publications in Science, Nature Cell Biology.

The post holder will work closely with other bioinformaticians, laboratory and clinical scientists in the teams and the collaborations in the University, Wellcome Sanger Institute and The European Bioinformatics Institute. The post holder will have the opportunities to work on a range of experimental and publicly available datasets, including long and short-read whole genome sequencing, whole exome sequencing, ultra-high depth DNA and RNA sequencing of the nuclear and mitochondrial genomes, single cell DNA-sequence and transcriptomic data, and epigenomic datasets. In addition to their own research, there will be opportunities for training and career development.

The main tasks will be:

  • Identifying disease causing mutations in next generation sequencing data of patients with rare, inherited neurological and mitochondrial diseases.
  • Developing computational and mathematical models describing the onset and spread of new nuclear and mtDNA mutations in different human cell types, during development and throughout life.
  • Testing and refining the models with existing and novel data sets.
  • Contributing to the design and interpretation of laboratory experiments
  • Close working with experimental laboratory scientists
  • Presentation at workshops and conferences
  • Writing scientific manuscripts describing key findings.
  • The opportunity to train others.

The post will be administratively based within the Department of Clinical Neurosciences but will be physically within the MRC Mitochondrial Biology Unit housed in the Wellcome Trust/MRC Building on the Cambridge Biomedical Campus. The MRC Mitochondrial Biology Unit includes nine other research groups studying the fundamental biology of mitochondria, how these changes in disease, and how to harness this knowledge to develop treatments. The unit has state-of-the-art facilities available to group members. The post will involve collaboration with bioinformatics teams across the campus, and closely collaborating groups within the Queen Square Centre for Neuromuscular Diseases as part of the recently launched International Centre for Genomic Medicine in Neuromuscular Diseases.

To apply online for this vacancy and to view further information about the role, please visit :

Post graduate education or significant or extensive experience in computational biology at PhD level, ideally involving mitochondrial biology is essential.

For questions relating to the post, please contact Dr. Rita Horvath ( or Professor Patrick Chinnery:

The closing date is 8 September 2019, with interviews to be confirmed.

Please quote reference ZE20340 on your application and in any correspondence about this vacancy.

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