MRes/PhD Studentship Identifying New Genes in Adult-Onset Mitochondrial Disorders



Reference Code: IA063

Name of the supervisor(s)
Professor R Taylor, Institute for Ageing and Health (IAH)
Dr G Gorman, (IAH)
Professor P Chinnery, Institute of Genetic Medicine (IGM)

Sponsor
Medical Research Council (MRC)

Duration of the award
4-year integrated MRes/PhD or 3-year PhD if applicant has a suitable Masters Degree approved by Newcastle University.

Project description

The synthesis of ATP by mitochondrial oxidative phosphorylation (OXPHOS) is dependent upon the co-ordinated expression and interaction of both nuclear and mitochondrial-encoded gene products. As a consequence, mitochondrial diseases – an important group of inherited neurological and neuromuscular conditions affecting both adults and children – may be caused by mutations in either mendelian-inherited nuclear genes or the maternally-inherited mitochondrial genome. Recessively or dominantly-inherited progressive external ophthalmoplegia (PEO), characterised by extraocular muscle involvement, is a commonly-occurring mitochondrial disease presentation in adults with mitochondrial DNA deletions in muscle, secondary to a nuclear genetic defect of mitochondrial DNA maintenance, replication or repair.

Based within the laboratories of the Wellcome Trust Centre for Mitochondrial Research, the aim of this studentship is to use exome sequencing to determine the underlying genetic basis of mitochondrial disease in a large, well-characterised cohort of patients in whom known disease gene candidates have been excluded. Established bioinformatic algorithms will be applied to filter known SNPs, whilst novel gene variants will be examined further by cell complementation experiments to rescue patient cell lines expressing a defect or siRNA knockdown of putative candidate genes to investigate the effect on mitochondrial DNA maintenance, stability and the dynamic mitochondrial network.

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Value of the Award and Eligibility

Depending on how you meet the MRC’s eligibility criteria, you may be entitled to a full or a partial award. A full award covers tuition fees at the UK/EU rate and an annual stipend of £13,726 (2013/14). A partial award covers fees at the UK/EU rate only.

Person Specification

Candidates must have either a first-class or upper-second-class BSc Honours degree or a Master’s degree (Merit or Distinction) in a relevant subject.

How to Apply

You must apply through the University’s online postgraduate application form inserting the reference number IA063 and selecting ‘Master of Research/Doctor of Philosophy (Medical Sciences) – Ageing’ as the programme of study. Only mandatory fields need to be completed (no personal statement required) and a covering letter, CV and (if English is not your first language) a copy of your English language qualifications must be attached. The covering letter must state the title of the studentship, quote the reference number IA063 and state how your interests and experience relate to the project.

Closing date for applications 

Prompt application is advised as this post is only available until a suitable candidate is appointed.

Further Information

For further details, please contact:
Professor Rob Taylor
E-mail: [email protected]
Telephone: +44 (0) 191 222 3685

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