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

  • Phd
  • Full cost of UK/EU tuition fees, plus a stipend
  • 22 January 2018

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


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.


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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 ÂŁ1,000 per annum available for research expenses such as travel, accommodation, field trips and conference attendance.


Please visit our website for more information.

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