Whole genome sequencing reveals new genetic marker for cardiomyopathy
Photo courtesy of The Hospital for Sick Children
Drs. Ryan Yuen and Seema Mital
In the first study to use whole genome sequencing to examine tandem repeat expansions in heart conditions, scientists at The Hospital for Sick Children (SickKids) have laid the groundwork for early detection of and future precision therapies for cardiomyopathy.
Cardiomyopathy is an inherited heart condition that impacts up to one in 500 individuals. The condition affects the structure and function of the heart and can ultimately lead to heart failure.
The SickKids-led study, supported in party by the McLaughlin Centre, published in eBioMedicine, part of The Lancet Discovery Science, indicates that tandem repeats – a form of genetic variation – are more often expanded in individuals with cardiomyopathy, and may cause four per cent of cases. Tandem repeat expansions (TREs) are known to contribute to over 60 conditions, often with a hereditary component. Learn more about the article.
