PhD Studentship – Investigating the Molecular Basis of the Spontaneous Recovery Infantile Reversible Cytochrome C Oxidase (COX) Deficiency Myopathy



Reference Code: HG047

Closing Date: 18th October 2013

Details: Name of the supervisor

Professor R Horvath, Institute of Genetic Medicine, Newcastle University

            Sponsor

ITN Marie Curie Action

Duration of the award: Three year PhD

Project Description

Mitochondrial European Educational Training (MEET) intends to educate a young generation of scientist in the appreciation and dissection of the multifaceted aspects of mitochondrial medicine.

The candidate would be working towards a PhD in the field of mitochondrial diseases. The project is to investigate the molecular basis of the spontaneous recovery in a rare but fascinating mitochondrial condition, infantile reversible cytochrome c oxidase (COX) deficiency myopathy. Our group has recently identified that the molecular cause of reversible cytochrome c oxidase (COX) deficiency is the homoplasmic m.14674T>C mutation in the mitochondrial mt-tRNAGlu gene, which raised a number of important issues. The proposed project investigates why patients with homoplasmic m.14674T>C show an isolated muscle involvement, why symptoms start uniformly in the first days or weeks of life, and what is behind the age-dependent, spontaneous recovery. The identification of the pathomechanism of reversible COX deficiency myopathy may have implications in other mitochondrial conditions. The long-term goal of this approach would be to upregulate or boost compensatory factors in patients with different types of mitochondrial disease with the aim to open new avenues for therapy.

Value of the Award and Eligibility

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The award includes a three year employment contract of €38,000 (GBP equivalent) per year to be used to cover fees and living costs. The award also includes a mobility allowance (€800 – €1000 per month).

EU and international students are eligible to apply. The applicants must not have resided or carried out their activity (work, studies, etc) in the UK for more than 12 months in the three years immediately prior to their recruitment.

Person Specification

The early scientific researcher must be in possession of an upper-second-class Honours degree in biology, medicine, biotechnology or in any other life/natural sciences disciplines.

How to Apply

You must apply through the University’s online postgraduate application form selecting ‘PhD in the Faculty of Medical Sciences – Human Genetics’ as the programme of study. Once you have selected the programme, please insert the studentship/partnership reference number HG047. Only mandatory fields need to be completed (no personal statement required) but you must attach a copy of your CV and a covering letter, quoting the title of the studentship and reference number HG047.

Further Information

For further details, please contact:
Professor R Horvath
E-mail: [email protected]
Telephone: +44 (0) 191 2418855.

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