| Citation | Hugh Watkins has made major contributions to delineating the genetic basis of cardiac diseases and has used this to drive important clinical advances. His work on hypertrophic cardiomyopathy showed that this common, life-threatening, heart muscle disorder is caused by mutations in myofilament proteins which increase calcium-sensitivity and the energy cost of force production. These findings highlighted novel aspects of muscle physiology and cardiac energetics, and have led to new approaches to therapy. He has developed direct genetic testing and shown its clinical utility for identifying individuals at risk; adoption of genetic testing has transformed clinical care for affected families worldwide. |