A team of researchers at the Perelman School of Medicine have developed a personalized stem cell-based test that allows patients to better understand how genetic variants can influence their risk of cardiovascular disease.
The study, led by Kiran Musunuru and Anjali Tiku Owens, created custom stem cells with specific genetic variants using a gene editing technique developed in Musunuru’s lab. Researchers focused on TNNT2, a gene associated with severe hypertrophic cardiomyopathy, and studied a specific TNNT2 variant that was found in a patient treated at the Penn Center for Inherited Cardiac Disease. The study results provided the patient and her family personalized insights on how to best monitor their cardiovascular health.
This is the first time that stem cells have been used to direct patient and family care for cardiovascular disease. “With our assay, we now have a way to start determining the potential impact of these variants on the health of patients and their family members,” says Owens.
The results of this study were published in Circulation.
Read more at Penn Medicine News.
