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Wellcome Centre for Mitochondrial Research (WCMR) – PhD Studentship in Identifying nuclear genetic modifiers of the pathogenic mtDNA variation m.3243A>G

   Institute of Neuroscience

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  Dr S Pickett  No more applications being accepted  Funded PhD Project (Students Worldwide)

About the Project

Number of awards:


Application closing date:

Applications accepted until position filled.


Applications are invited from highly qualified and motivated students for PhD training.

This is one of four studentships available in the WCMR. Incoming students will be engaged in research projects integrating across the groups within the Centre, offering a vibrant multidisciplinary training environment. The Centre has an excellent track record in training and mentoring both basic and clinical scientists at this level.

This project will focus on m.3243A>G, the most common mitochondrial DNA mutation. Patients display a huge amount of clinical variability; heritability studies strongly suggest that nuclear genetic factors influence phenotype. Identifying these factors will allow clinicians to tailor patient treatment and advice.

The successful applicant will use tools from complex disease genetics to identify nuclear modifiers of m.3243A>G-related disease in a unique clinical cohort containing ~140 pedigrees. Modifying nuclear variants will be identified using whole-genome genetic linkage and association analyses and whole-genome sequencing. Bioinformatic tools will be used to assess their biological importance. Functional characterisation, employing a range of biochemical techniques appropriate to the variants being studied (e.g. Western blotting, quantitative reverse transcriptase PCR, Blue Native PAGE, reporter gene assays), will determine their biological mode of action in patient fibroblasts and muscle samples.

Research activities within the Centre are built on our long standing clinical and scientific expertise in mitochondrial biology and disease, with more than 50 researchers engaged in research projects spanning clinical aspects through diagnosis and gene discovery to fundamental science investigating molecular mechanisms and mitochondrial gene expression.

We are committed to providing the best care for our patients by developing new strategies for preventing or treating mitochondrial disease. This is dependent upon high quality basic and clinical research, to which incoming students will contribute, allowing us to better understand the mechanisms underlying mitochondrial disease.


Newcastle University (https://bitly.im/KxUmL)

Name of supervisor(s):

Dr Sarah Pickett, Professor Rob Taylor, Professor Heather Cordell

Eligibility Criteria:

Candidates must have a BSc (Hons) in an appropriate scientific speciality at first or 2:1 level.

The award is available to UK/EU and international applicants.

How to apply

You must apply through the University’s online postgraduate application system. To do this please ‘Create a new account’ (https://bitly.im/uUubu).

Only mandatory fields need to be completed, but you must include the following information:
•insert programme code 8300F in the programme of study section
•select ‘PhD in the Faculty of Medical Sciences - Neuroscience’ as the programme of study
•insert studentship code IN094 in the studentship/partnership reference field
•attach a covering letter and CV. The covering letter must state the title of the studentship, quote studentship reference IN094 and state how your interests and experience relate to the project
•attach degree transcripts and certificates and, if English is not your first language, a copy of your English language qualifications.

Funding Notes

This studentship covers UK/EU fees plus an annual stipend at Research Council rates (£14,553 for 2017-18), for a 3-year PhD. Successful international candidates will be required to make up the difference between the UK/EU fees and international fees.
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