Emeritus Fellow Professor Hugh Watkins co-leads two landmark studies published in Nature Genetics

Professor Hugh Watkins, Emeritus Fellow in Medicine at Exeter College, has co-led two landmark studies published in Nature Genetics that significantly advance the understanding of hypertrophic cardiomyopathy (HCM), a prevalent inherited heart condition. 

The research, conducted in collaboration with Professor James Ware of Imperial College London, identified 50 new genetic loci associated with HCM, including rare variants in the SVIL gene, which encodes the protein supervillin. These SVIL variants were found to increase the risk of developing HCM tenfold. This discovery underscores the complex genetic architecture of HCM, which involves both rare and common genetic variants. 

In a complementary study, the team demonstrated that calculating a polygenic risk score (PGS) based on an individual’s genetic profile can predict not only the likelihood of developing HCM but also the severity of the disease. Notably, among individuals carrying a single rare pathogenic variant, those with higher PGS had a significantly increased risk of developing severe HCM.  

Professor Watkins emphasized the clinical implications of these findings: “Together, these two papers help us understand how common genetic variation causes HCM to develop variably in different family members. We can use this information to predict which affected individuals are likely to develop severe forms of the disease.”  

These studies are integral to the international CureHeart project, led by Professor Watkins and funded by the British Heart Foundation. CureHeart aims to develop genetic therapies for cardiomyopathies, and the ability to stratify patients based on genetic risk is a crucial step toward personalized treatment approaches.  

For more information on the CureHeart project and Professor Watkins’ research, please visit the CureHeart website and the Radcliffe Department of Medicine.