The seven-year fellowship will support research into how rare genetic variants influence the risk of developing inherited cardiac conditions and congenital heart disease. This work aims to build the evidence needed to understand the implications of these variants for people's health. Dr McGurk, who has been investigating genetic variation's influence on cardiovascular disease at Imperial for six years, will use the award to establish her independent research programme.
Inherited cardiac conditions are a significant cause of sudden cardiac death, and congenital heart disease is the most common birth defect globally. While genomic testing identifies numerous disease-associated genetic variants, understanding their precise impact on individuals remains a challenge. Dr McGurk's research will integrate large-scale genomic, imaging, and clinical datasets to better comprehend how rare genetic variants affect heart structure, function, and disease risk. By analysing data from population biobanks and disease-specific cohorts, the project seeks to explain why some individuals with disease-associated variants develop the condition while others do not.
A key focus of the fellowship is 'penetrance' – the likelihood of developing disease in someone carrying a disease-associated genetic variant. Some variants known to cause disease in affected families may show lower risk levels in the general population. Dr McGurk hopes this research will offer greater clarity for individuals undergoing genetic testing and support clinicians as genomic information becomes more integrated into healthcare.
We're getting to a point where people could have access to information about genetic variants that put them at risk of certain diseases. But we're moving faster in implementing genetics than we are in building the evidence base, particularly for cardiac conditions. This fellowship is about getting us ready, so we have the evidence to understand which genetic variants we should act on. The only way to ensure inherited cardiac conditions are part of the future of genomic medicine is by building that evidence base.
The fellowship integrates cardiovascular genetics, cardiac imaging, data science, health economics, and ethics. It aims to address key evidence gaps in genomic medicine and explore how genomic information can inform future healthcare decisions, reproductive planning, and the delivery of genomic medicine within health systems. Dr McGurk's research programme builds on existing collaborations with Professor James Ware and Professor Declan O'Regan at Imperial, as well as national and international partners.
Reflecting on the fellowship, Dr McGurk stated: "This means a huge amount to me. I've been supported by the BHF throughout my postdoctoral career... The fact that they're continuing to support me into my mid-career for seven years, it's just incredible. It means a huge amount and provides an incredible opportunity to establish my independent research programme. This fellowship also reflects the support of an outstanding network of mentors, collaborators and colleagues across Imperial and beyond. It takes a village!”
