DSECT Alumnus finds genetic link between life-threatening heart condition and certain chemotherapy drugs

New research by Drug Safety Cross Disciplinary Training Program (DSECT) alumnus Dr. Folefac Aminkeng and his colleagues at the Canadian Pharmacogenomics Network for Drug Safety (CPNDS) has identified a novel gene that causes severe cardiotoxicity, thickening of the heart muscle, in people that have received anthracyclines chemotherapy drugs.

Anthracyclines are a class of life-saving chemotherapy drugs used to treat about 70% of childhood cancers and over 70-80% of women diagnosed with breast cancer under the age of 70. However, 57% of people receiving these drugs develop cardiomyopathy, and up to 20-30% develop congestive heart failure. Published in the journal Nature Genetics, this study identifies RARG as an important gene involved in the development of severe cardiotoxicity. A variant in this gene increases the risk of developing cardiomyopathy and congestive heart failure fivefold. Point-of-care genetic testing for this variant to guide therapeutic decision is currently being implemented in British Columbia. Current research efforts lead by Dr. Aminkeng and co-authors Drs. Amit P. Bhavsar, Colin J.D. Ross and Bruce C. Carleton are focused on finding clues to developing safer chemotherapy for future cancer patients.

Research like this is no small feat. For Aminkeng, DSECT has been an invaluable asset in developing the background necessary for this quality of work. “As a trainee preparing for a career in genomics and translational research in drug safety and effectiveness, DSECT was the perfect training program and I will forever remain very grateful to DSECT,” Aminkeng says.

DSECT is a training program led by Dr. Lisa Dolovich at McMaster University and funded by the Canadian Institutes of Health Research (CIHR) as part of the Drug Safety and Effectiveness Network. Dr. Carleton is a mentor with the DSECT program.

This work fits into a larger interest for Aminkeng. He is continuing his research pursuits with work that will help identify and prioritize drug safety practices that are clinically relevant and will have an impact on public health, while looking for methods of implementation “in cost effective pharmacogenetics and public health programs,” he says.

The DSECT team would like to congratulate Dr. Aminkeng on his success and thank him for making important work like this a priority.

Learn More

Nature Article: A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancer

DSEN Abstract: Identification of Pharmacogenomic Markers of Anthracycline-Induced Cardiotoxicity in Children

University of British Columbia: Researchers find gene responsible for chemotherapy-induced heart damage