Medicine: Swansea University Research Excellence Scholarship: Linking Genomic Data with Routinely-collected Health Data for Epilepsy Genotype-phenotype Research

Closing date: 22 January 2018

Key Information

Swansea University Research Excellence Scholarships (SURES)

Swansea University is proud to offer 15 fully-funded PhD scholarships for students commencing study in October 2018 or January 2019.

The scholarships will be awarded on the basis of student excellence across a portfolio of 34 potential projects.

Project title: Linking Genomic Data with Routinely-collected Health Data for Epilepsy Genotype-phenotype Research

Start date: October 2018

Epilepsy is a common neurological disease with significant health and social co-morbidity. Although advances have been made in understanding its aetiology, prognosis and treatment, considerable uncertainties remain. This project will take the novel approach of using routinely-collected data linked with detailed genetic-sequencing data to address these uncertainties.

A wealth of routinely-collected data is available in the Secure Anonymised Information Linkage (SAIL) Databank. SAIL provides researchers with secure access to a large number of linked, anonymised datasets. The Swansea Neurology Group has over 720 DNA samples from people with epilepsy from a large Swansea-led infrastructure research project (the ‘Swansea Neurology Biobank’) with ‘exome sequencing’ coverage and permission to upload into SAIL.

This project will develop a platform to upload and anonymously link large genetic sequencing datasets (patient exomes) with routinely-collected data in SAIL and perform retrospective cohort studies. These studies would compare groups of epilepsy patients who show different levels of disease severity, treatment response, social deprivation and co-morbidity. The project will also compare clinical outcomes in those groups who show a gene-loading bias in terms of burden of predicted deleterious gene-variants (see Lancet Neurology 2017: 16(2),135–143). There is then scope to develop and apply techniques such as Mendelian randomisation, meta-dimensional analysis and ‘wet-lab’ genetic validation / gene-expression analysis.

The prospective student will join the large, inclusive, impact-winning Swansea Neurology Research group with a 100% PhD success-rate over 16 years (n=21) and be part of the Neurology SAIL team. They will also have access to our Postgraduate Research Student Training programmes.

Supervisors / Academic Contacts: Professor Mark Rees / Dr Owen Pickrell / Dr Seo-Kyung Chung

Eligibility

Candidates should have (or expect to obtain) a first class honours degree (or equivalent) and/or a master's degree with distinction in a related discipline (biomedical sciences, data-linkage, computer studies, mathematics or health epidemiology).

Experience with, or the ability to learn, analysis of large datasets, programming languages and bio-statistical techniques is required.

Due to funding restrictions, this scholarship is open to UK/EU candidates only.

Funding

The scholarship covers the full cost of UK/EU tuition fees and an annual stipend of £14,553 for 3 years. 

There will also be £1,000 per annum available for research expenses such as travel, accommodation, field trips and conference attendance.

How to Apply

To apply please complete and return the following documents to Dr Vivienne Jenkins (pgrsures@swansea.ac.uk) quoting reference SUMS5:

Student applications will be evaluated against the following criteria:

  • Literary and Academic attainments (60%)
  • Demonstrable esteem indicators i.e. ambassadorial skills, instincts and opportunities to demonstrate leadership, experience and interest in extracurricular and community activities (40%)

Informal enquiries before the deadline are welcome and should be directed to Professor Mark Rees (m.i.rees@swansea.ac.uk / +44 (0)1792 602203).