NIHR Exeter BRC PhD Studentship: Exploring the non-coding genome to identify novel genetic causes of rare disease

   College of Life and Environmental Sciences

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  Dr T Laver, Dr S Flanagan  No more applications being accepted  Competition Funded PhD Project (Students Worldwide)

About the Project

Research Theme:

Genetics and Genomics

Programme of Study:

MPhil/PhD Genetics and Genomics, within the Faculty of Health and Life Sciences.

Project description:

Understanding the genetic causes of rare disease leads to major advances in our understanding of the mechanisms of disease and can lead to improved treatment. Whilst rare diseases are individually rare, cumulatively they affect 1 in 17 people, including 3.5 million in the UK.

This project aims to identify new genes and genetic mechanisms causing hyperinsulinism. Hyperinsulinism is a severe rare disease affecting young children where poorly controlled insulin secretion causes dangerously low blood sugar levels. If left untreated this can result in brain damage. A genetic diagnosis can help patients to get the best treatment, however we are unable to find the genetic cause of the hyperinsulinism for half the patients with the disease.

Methods to be used

We have the world’s largest cohort of patients with hyperinsulinism. The student will analyse DNA sequencing data from over 1500 patients including genome sequencing data on more than 200 patients. This project will specifically use cutting-edge computational methods to discover novel genetic causes in our cohort. The student will learn how to analyse DNA sequencing data to find the single causative variant, and follow this up with replication studies. Furthermore, they will use epigenomic data to interpret variants, clinical phenotyping to understand the impact of novel genetic findings and molecular genetics laboratory work to screen for variants in additional patients.

Impact of our findings

Discovering new genetic causes of hyperinsulinism is important as it gives key insights into how our bodies work – which regions of DNA control pancreas development and are important for the regulation of blood sugar levels. This new knowledge, therefore, has the potential to help patients with more common diseases such as diabetes, as well as directly providing a genetic diagnosis for children with hyperinsulinism that can improve treatment of their condition.


The student will be embedded in a supportive multi-disciplinary team of bioinformaticians, clinicians and molecular geneticists, enabling training in bioinformatics, statistics, clinical phenotyping and molecular genetics laboratory skills. They will learn bioinformatics skills to analyse DNA sequencing data including via courses from the University’s Coding for Reproducible Research group and the opportunity to attend Masters modules, e.g. MSc Genomic Medicine Advanced Bioinformatics. They will also develop transferable skills including scientific writing, visualising data and public speaking, and have the opportunity to put this into practice by publishing their work and presenting at international conferences.

NIHR Exeter BRC Commitment

This Studentship will be nested within the National Institute of Health and Care Research Exeter Biomedical Research Centre (NIHR Exeter BRC), hosted by the Royal Devon University Healthcare NHS Foundation Trust in partnership with the University of Exeter and in collaboration with South West NHS organisations. The first of its kind for the South West peninsula, the Centres fundamental objective is to improve health outcomes for patients and the public by translating scientific breakthroughs into potential new treatments, diagnostics and medical technologies.

This studentship will provide the opportunity to work with world-leading researchers and have access to state-of-the-art facilities. The NIHR Exeter BRC are committed to developing and nurturing a diverse and rich pipeline of talented researchers by equipping them with the knowledge and skills to excel and contribute significantly to the local and national economy via the delivery of high-quality and impactful translational biomedical research. Expertise will be harnessed from across the partnership to deliver the best possible training and career development opportunities, with the student provided the opportunity to be embedded in a rich research culture, with a growing body of early career researchers.

We are delighted to have already recruited some exceptionally talented researchers at various career stages to our NIHR Exeter BRC, including Senior Investigator Fellows, Translational Fellows and our first cohort of PhD students who started with us in September.

It should be noted that funding will not allow all projects to be appointed to, as such, the top performing candidates as chosen by the selection panels will be matched to their project of choice and only these will be awarded. You are able to apply for up to two projects being advertised within this funding round.

Fees and funding

For eligible students, the studentship will cover Home tuition fees plus an annual tax-free stipend of at least £18,622 (in alignment with standard Research Council UK rate) for 3 years full-time, or pro rata for part-time study, in addition to a Research Training and Support Grant (RTSG). The student would be based at the Research, Innovation, Learning and Development (RILD) building based at the Royal Devon and Exeter Hospital site in Exeter, near to the St Lukes Campus.

*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. International applicants need to be aware that you will have to cover the cost of your student visa, healthcare surcharge and other costs of moving to the UK to do a PhD.

The conditions for eligibility of home fees status are complex and you will need to seek advice if you have moved to or from the UK (or Republic of Ireland) within the past 3 years or have applied for settled status under the EU Settlement Scheme.


The closing date for applications is midnight on Tuesday 2nd January 2024.

Interview panels will be held virtually in late January/ early February 2023 for a September 2024 start.

Contact details

If you would like to discuss the studentships further, please contact the primary supervisor as stated in the advert. If you have any queries surrounding the application process or the BRC more generally, please contact Dr Sophie Gould (NIHR Exeter BRC Training and Events Manager) at [Email Address Removed].

Biological Sciences (4)

Where will I study?

 About the Project