December 21, 2019 at 6:19 pm #4215stevenwattersonParticipant
We have a PhD studentship available At Ulster University, UK, using mathematical modelling to explore the epidemiology and screening of familial hypercholesterolemia and to develop new biomarkers for detection of the condition. The deadline for applications is the 7th February, 2020, and the studentship would start September, 2o20, though some flexibility may be possible.
Cardiovascular disease (CVD) is the leading cause of death globally, accounting for 17.9 million deaths globally annually with 3600 in Northern Ireland (NI). Familial Hypercholesterolaemia (FH) is a genetic disorder that elevates blood cholesterol increasing CVD risk, affecting 1 in every 250 individuals. 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.
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 Preliminary (unpublished) modelling of the UK population shows how random and cascade screening can combine to reduce the number of undiagnosed and untreated cases. At the Northern Ireland Centre for Stratified Medicine, the supervisors SW and TSR have identified polygenic/polyproteomic risk panels for non-FH conditions with 8 invention disclosures under review.
For further details see https://www.ulster.ac.uk/doctoralcollege/find-a-phd/512618
Applications must be made through the Ulster University website.
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