Dr Kathryn McGurk awarded BHF Discovery Research Future Leaders Fellowship to advance genomic medicine for inherited heart conditions

The seven-year fellowship will support research into how rare genetic variants influence the risk of developing inherited cardiac conditions and congenital heart disease, helping to build the evidence needed to understand what these variants mean for people's health.

Dr Kathryn McGurk, Assistant Professor at Imperial’s National Heart and Lung Institute (NHLI), has been awarded a prestigious British Heart Foundation (BHF) Discovery Research Future Leaders Fellowship. The award will support Kathryn as she establishes her independent research programme, building on six years at Imperial investigating how genetic variation influences cardiovascular disease. 

Understanding what genetic variants mean

"I would love for individuals who find out they have a risk genetic variant to have strong evidence to make their own informed decisions."

Inherited cardiac conditions are a major cause of sudden cardiac death, while congenital heart disease is the most common birth defect worldwide. Advances in genomic testing have enabled researchers to identify growing numbers of disease-associated genetic variants, but significant questions remain about how those variants influence disease in different individuals. As genomic testing becomes more widely available, understanding what these findings mean for people who haven’t got disease yet is becoming increasingly important. 

To address this challenge, Kathryn's research will bring together large-scale genomic, imaging and clinical datasets to better understand how rare genetic variants affect heart structure, function and disease risk. By combining evidence from population biobanks and disease-specific cohorts, the project will explore why some people carrying disease-associated variants develop disease while others do not, helping to build a clearer understanding of genetic risk across the wider population and address important evidence gaps across cardiovascular genomics.  

A central focus of the fellowship is understanding "penetrance" – the likelihood that a person carrying a disease-associated genetic variant will go on to develop disease. Some variants known to cause disease in patients and affected families may be associated with lower levels of risk when found in the wider population. 

Kathryn hopes the research will help provide greater clarity for individuals undergoing genetic testing, while supporting clinicians as genomic information becomes increasingly 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." 

Building the evidence base for genomic medicine 

The fellowship brings together cardiovascular genetics, cardiac imaging, data science, health economics and ethics to address key evidence gaps in genomic medicine. 

Alongside improving the understanding of inherited cardiac conditions and congenital heart disease, the research will explore how genomic information could be used in future healthcare settings, including informing clinical decision-making, reproductive planning and the delivery of genomic medicine within health systems. 

Kathryn hopes the work will ultimately help individuals and families navigate increasingly complex genetic information. 

"I would love for individuals who find out they have a risk genetic variant to have strong evidence to make their own informed decisions." 

Kathryn's research programme builds on collaborations established throughout her career, including with Professor James Ware and Professor Declan O'Regan at Imperial, alongside a wider network of national and international collaborators. 

Establishing an independent research programme 

The award follows Kathryn's recent appointment as an Assistant Professor at Imperial, where she is building an interdisciplinary research programme focused on translating genomic discoveries into improved cardiovascular health. 

Reflecting on receiving the fellowship, Kathryn said: "This means a huge amount to me. I've been supported by the BHF throughout my postdoctoral career, from a Centre of Research Excellence Junior Fellowship and an Immediate Fellowship. 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!”