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Genetic and environmental modifiers of iron overload disease: why do only some patients get serious heath outcomes?

   Medical School

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  Dr Janice Atkins, Prof D Melzer, Dr L Pilling  No more applications being accepted  Funded PhD Project (Students Worldwide)

About the Project

Location: Epidemiology and Public Health Research Group, University of Exeter St Luke’s Campus, Exeter, Devon, UK, EX1 2LU

Project Description:

In Hereditary Haemochromatosis (HH) - the most common genetic disease of northern Europeans (1 in 150 people) - patients exhibit iron overload which results in serious disease. However, not all individuals with high risk HH gene variants actually go on to develop serious disease. This PhD project aims to discover the genetic and other factors that explain this great variation in clinical outcomes, using data science, statistics, genetics and epidemiological approaches in large databases.

HH is predominantly caused by the HFE p.C282Y genetic variant (1). The UK has the second highest prevalence of this mutation worldwide, with >350,000 people being HFE p.C282Y homozygotes (two copies of the mutation). HH is easily identifiable with simple clinical iron tests, and preventative treatment with venesection is safe and effective. However, symptoms of HH often present as tiredness and fatigue which may be misdiagnosed as the usual signs of ageing or diagnosed late in the course of disease after irreparable damage has occurred. A major challenge is identifying at-risk patients early. Our research has shown a huge excess of liver cancer in HH, with 7.2% of males p.C282Y homozygotes predicted to develop liver cancer by age 75 compared to just 0.6% in those without HH mutations. However, penetrance is variable with not all individuals with high risk HH genotypes developing these outcomes. Furthermore, the disease burden is thought to be less in women, who have partial protection from menstrual blood losses, but this is unclear and risks in those using contraception to stop menstruation and risk after menopause needs clarifying.

In preliminary work we are finding a big role for other genetic variants and environmental factors in modifying disease outcomes within p.C282Y homozygotes. The project will take the field forward substantially by leveraging data from the UK Biobank (combining genetics and electronic medical records in ~500,000 people) to increase our understanding of patient variability, informing efforts to identify and appropriately treat those with the highest risk.

The studentship will appeal to students with a background in epidemiology, statistics, data science, mathematics, genetics, nursing, etc. Skills in quantitative scientific approaches and data analysis would be an advantage. The student will work with a supervisory team with experience in HH research; the team have published on HH in high impact journals including the BMJ and JAMA. The direction of the PhD is flexible and can be partially moulded to suit the strengths and interests of the successful candidate.

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. 

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.

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.

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. 

Background knowledge/skills in epidemiology, genetics, statistics or data science is desirable.

If English is not your first language you will need to meet the required level (Profile C) as per our guidance at

How to apply

In order to formally apply for the PhD Project you will need to go to the following web page.

The closing date for applications is Monday 14th February 2022.

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

Funding Notes

The University of Exeter’s College of Medicine and Health is inviting applications for a fully-funded PhD studentship to commence in February 2022 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. 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.
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