This opportunity is now closed.

Funded PhD Opportunity

Improving the screening and diagnosis of familial hypercholesterolemia

Subjects: Biomedical Sciences and Computer Science and Informatics



Cardiovascular disease (CVD) is the leading cause of death globally, accounting for 17.9 million deaths globally annually1 with 3600 in Northern Ireland (NI)2. Familial Hypercholesterolaemia (FH) is a genetic disorder that elevates blood cholesterol increasing CVD risk, affecting 1 in every 250 individuals3.  Diagnosis and treatment reduce mortality 100-fold in young adults and 4-fold in older adults, yet current screening practices are ad hoc, with no systematic screening in any country and diagnostic tests that show a poor understanding of polygenic risk.  It is estimated that 70% of cases go undiagnosed and untreated.

We propose to:-

* use existing genome and proteome datasets (UK Biobank and NI Centre for Stratified Medicine - NICSM) with gene set association techniques and machine learning to identify new polygenic risk combinations.

* computationally model FH screening in the UK and Northern Ireland to identify strategies for maximising diagnosis.  At the NICSM, the supervisors SW and TSR have identified polygenic/polyproteomic risk panels for non-FH conditions with 8 invention disclosures under review.  FH cases are currently identified opportunistically with cascade screening of blood relatives.  Preliminary (unpublished) modelling of the UK population shows how random and cascade screening can combine to reduce the number of undiagnosed and untreated cases.


1) Using UK Biobank and NICSM clinical and whole exome data, and NICSM proteome data, we will calculate and validate new polygenic risk functions using machine learning methods.

2) Using census data and models of hereditary transmission, we will:-

* identify how to maximise the number of FH diagnoses made with existing screening resources

* calculate the resources needed for 100% FH diagnosis

* explore implications for national and international screening.

3) Using the NICHS-HSCNI database of FH screening results, we will:-

* evaluate the efficacy of current practices across Northern Ireland, identifying blackspots and suggesting solutions.


Dr Steven Watterson (SW) is a computational biologist, focussing on CVD.  Prof Huiru Zheng (HZ) is a computer scientist with interests in healthcare informatics and machine learning.  Dr Haiying Wang (HW) is a computer scientist with expertise in machine learning/bioinformatics/healthcare informatics. Dr Taranjit Singh Rai (TSR) is a laboratory biologist with interests in the pathophysiology of CVD.

Partners: Dr Maurice O’Kane (MOK) is a consultant clinical pathologist responsible for FH clinics in the Northwest of Ireland and the director of the NI clinical research network.  Dr Shane McKee (SM) is a consultant clinical geneticist in the NI Regional Genetics Service and the chief clinical information officer for the Belfast Trust.  Dr Padraig Hart (PH) is a clinical scientist in the NI Regional Genetics Service.


[1] WHO (2018), Noncommunicable diseases country profiles 2018, WHO.

[2] British Hearth Foundation (2018), Northern Ireland Fact Sheet.

[3] Henderson R, O’Kane M, McGilligan V, Watterson S (2016). The genetics and screening of familial hypercholesterolaemia, J Biomed Sci 23(1):39.

Campus - C-TRIC/Magee.

Desirable Criteria

If the University receives a large number of applicants for the project, the following desirable criteria may be applied to shortlist applicants for interview.

  • Demonstrable programming skills and mathematical ability.
  • Familiarity with biomedical science is desirable, but not essential.
  • Completion of Masters at a level equivalent to commendation or distinction at Ulster is desirable, but not essential.
  • A background in biomedical science, stratified/personalised medicine, bioinformatics, biomedical engineering, computer science, mathematics, physics or another quantitative science.

Essential criteria

  • To hold, or expect to achieve by 15 August, an Upper Second Class Honours (2:1) Degree or equivalent from a UK institution (or overseas award deemed to be equivalent via UK NARIC) in a related or cognate field.
  • Sound understanding of subject area as evidenced by a comprehensive research proposal


    The University offers the following awards to support PhD study and applications are invited from UK, EU and overseas for the following levels of support:

    Department for the Economy (DFE)

    The scholarship will cover tuition fees at the Home rate and a maintenance allowance of £ 15,009 per annum for three years. EU applicants will only be eligible for the fee’s component of the studentship (no maintenance award is provided). For Non-EU nationals the candidate must be "settled" in the UK. This scholarship also comes with £900 per annum for three years as a research training support grant (RTSG) allocation to help support the PhD researcher.

    Due consideration should be given to financing your studies; for further information on cost of living etc. please refer to:

Other information

The Doctoral College at Ulster University


Profile picture of Kieran O'Donnell

My experience has been great and the people that I have worked with have been amazing

Kieran O'Donnell - 3D printing of biological cells for tissue engineering applications

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Profile picture of Michelle Clements Clements

Completing the MRes provided me with a lot of different skills, particularly in research methods and lab skills.

Michelle Clements Clements - MRes - Life and Health Sciences

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Profile picture of William Crowe

Throughout my PhD I’ve been provided with continuous support and guidance by my supervisors and the staff at the University.I’ve also received many opportunities to further enhance my professional development in the form of teaching experience and presenting my work at conferences which will aid in my pursuit of a career in academia or industry.

William Crowe

Key dates

Submission deadline
Friday 7 February 2020

Interview Date
9 to 20 March


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Contact supervisor

Dr Steven Watterson

Other supervisors

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