Researchers at Mayo Clinic's Center for Individualized Medicine have discovered a rare genetic variant that can directly cause metabolic dysfunction-associated steatotic liver disease, formerly known as nonalcoholic fatty liver disease. Until now, scientists believed the disease resulted from a combination of genetic and environmental factors. This study, published in Hepatology, reveals that in some cases, a single inherited variant can be the primary driver.

A pioneering Israeli study has identified TRIM63 as a significant genetic contributor to hypertrophic cardiomyopathy (HCM)—the most common hereditary heart disease worldwide. The findings, published in Circulation: Genomic and Precision Medicine, could transform genetic screening and treatment protocols for HCM patients around the globe.

Led by Dr. Noa Ruhrman Shahar of Rabin Medical Center (Beilinson Hospital) and Professor Shay Ben-Shachar of the Clalit Research Institute, the study provides compelling evidence for the gene’s role in both causing and increasing susceptibility to HCM.

“This is a life-saving discovery,” said Dr. Ruhrman Shahar. “Recognizing carriers of disease-causing TRIM63 mutations enables early monitoring and intervention, dramatically lowering the risk of severe, even fatal, cardiac events.”