Scientists at The Hospital for Sick Children (SickKids) have made a groundbreaking discovery in the study of cardiomyopathy, an inherited heart condition that affects a significant portion of the population. The research, published in eBioMedicine, a part of The Lancet Discovery Science, utilized whole genome sequencing to investigate tandem repeat expansions (TREs) in heart conditions, providing valuable insights into early detection and potential precision therapies for cardiomyopathy.
Cardiomyopathy is a condition that impacts the structure and function of the heart, potentially leading to heart failure. It is estimated to affect up to one in 500 individuals. The study revealed that TREs, a form of genetic variation, are frequently expanded in individuals with cardiomyopathy, potentially contributing to four percent of cases. Notably, TREs have been linked to over 60 conditions, often with a hereditary component.
Dr. Ryan Yuen, Senior Scientist in the Genetics & Genome Biology program at SickKids, emphasized the significance of this discovery, stating, “Previously the extent of TREs involvement in cardiomyopathy was unclear. We now know another way to identify those who have a higher risk of developing this condition, which opens up possibilities for early intervention and targeted treatments.”
This pioneering research sheds light on the genetic markers associated with cardiomyopathy, offering promising prospects for improved diagnostic methods and personalized therapies. The findings have the potential to transform the approach to managing and treating this prevalent heart condition, ultimately enhancing patient outcomes and quality of life.
