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Award details

Defining the genetic causes of neonatal and early onset diabetes, Biological and Medical Sciences– PhD (Funded) Ref: 4160

About the award


Academic Supervisors

Dr Elisa De Franco, University of Exeter

Professor Sarah Flanagan, University of Exeter

Dr Matthew Johnson, University of Exeter

The University of Exeter’s College of Medicine and Health is inviting applications for a PhD studentship to commence in September 2021 or as soon as possible thereafter.  For eligible students the studentship will cover Home tuition fees plus an annual tax-free stipend of at least £15,609 for 3 years full-time, or pro rata for part-time study.  The student would be based in the College of Medicine and Health at the RILD Building, RD&E Hospital Wonford, in Exeter.

Project Description

This exciting fully funded PhD project will use next generation sequencing technologies to define the genetic basis of diabetes in neonates and infants.

Neonatal diabetes is diagnosed before the age of 6 months and is most commonly caused by mutations in a single gene. Identifying the genetic causes of neonatal diabetes has the unique potential to uncover the pathways which are essential for the production of insulin in humans and can result in improved therapy for these children.

The student will analyse genome sequencing and targeted next generation sequencing data from children affected with diabetes who are very likely to have a genetic mutation causing their condition. The student will use bioinformatic approaches to filter the variants and carry out genetic interpretation of the results to highlight the most likely causative variants. The analysis is very likely to result in the identification of novel genetic causes of disease and the student will replicate the novel genetic findings by screening the rest of the Exeter neonatal and early onset diabetes cohort (the largest in the world) and analysing genomic data from large cohorts such as the 100,000 genomes project and Genes and Health to define the disease spectrum.

The results of these studies will provide a diagnosis for families with a rare disease and will offer important insights into which genes regulate development and function of beta-cells. This new knowledge could identify novel biological pathways and therapeutic targets important for type 1 and type 2 diabetes.

This studentship offers a fantastic opportunity for a highly motivated individual to join a growing, interdisciplinary team of laboratory scientists, computer scientists and clinicians working on a broad range of diabetes-related research within Exeter. Whilst in Exeter, the successful applicant will be fully supported to develop computational and molecular genomics skills, whilst focussing on clinically relevant questions which will impact the lives of people living with disorders of insulin secretion. Developing these multi-disciplinary skills will allow the student to bridge-the-gap between large-scale data analysis and clinical impact, acting as a springboard for a successful career in diabetes research.

Please contact Dr Elisa De Franco informally for more details by email .

This award provides annual funding to cover Home tuition fees and a tax-free stipend.  For students who pay Home tuition fees the award will cover the tuition fees in full, plus at least £15,609 per year tax-free stipend.  Students who pay international tuition fees are eligible to apply, but should note that the award will only provide payment for part of the international tuition fee and no stipend.

Entry requirements

Applicants for this studentship must have obtained, or be about to obtain, a First or Upper Second Class UK Honours degree, or the equivalent qualifications gained outside the UK, in an appropriate area of science or technology, such as biomedical science, genetics, computer science, mathematics, or a related field. Knowledge of Python, R or similar language is desirable.

If English is not your first language you will need to have achieved at least 7.0 in IELTS and no less than 6.0 in any section by the start of the project.  Alternative tests may be acceptable (see

How to apply

In the application process you will be asked to upload several documents. 
• CV
• Letter of application (outlining your academic interests, prior research experience and reasons for wishing to undertake the project).
• Transcript(s) giving full details of subjects studied and grades/marks obtained (this should be an interim transcript if you are still studying)
• Names of two referees familiar with your academic work. You are not required to obtain references yourself. We will request references directly from your referees if you are shortlisted.
• If you are not a national of a majority English-speaking country you will need to submit evidence of your proficiency in English.

The closing date for applications is midnight on July 11th 2021.  Interviews will be held virtually in the week commencing on Aug 2nd.

If you have any general enquiries about the application process please email or phone 0300 555 60 60 (UK callers) +44 (0) 1392 723044 (EU/International callers)   Project-specific queries should be directed to the main supervisor.


Application deadline:11th July 2021
Value:Home tuition fees plus an annual tax-free stipend of at least £15,609 for 3 years full-time, or pro rata for part-time study
Duration of award:per year
Contact: PGR Admissions