Trainee Paper Spotlight: June 29, 2016
Trainee Author: Folefac Aminkeng, PhD
The University of British Columbia
(Photo courtesy Dr. Aminkeng)
Folefac Aminkeng et al. A Coding Variant in RARG Confers Susceptibility to Anthracycline-Induced Cardiotoxicity in Childhood Cancer. Nature Genetics, Volume 47, 1079-1084 (2015).
This article was selected for the June Trainee Paper Spotlight because cancer is a leading cause of morbidity and mortality. At least 14.1 million people are diagnosed every year and it accounts for at least 15% of all deaths. Advances in chemotherapy have improved the cure rates, but increase in adverse drug reactions (ADRs) remains a major concern. Anthracycline-based cancer treatments are highly effective and have improved the five-year survival rates to over 80%. These drugs caused cardiotoxicity in 57% and congestive heart failure in 16-20% of treated patients. We published the first genome-wide association study (740,000 SNPs) of anthracycline-induced cardiotoxicity (ACT) in 456 childhood cancer patients (73 cases and 383 controls) and uncover a potent genetic signature for ACT. A coding variant (rs2229774, p.Ser427Leu) in RARG was highly associated with ACT (P = 5.9 × 10-8, OR (95%) = 4.7 (2.7–8.3)), and alters RARG function leading to derepression of a key ACT genetic determinant Top2b, thereby providing new insights into the pathophysiology of ACT.
Training and Development Committee: Could you describe your research for us?
Dr. Aminkeng: My research is focused on the pharmacogenomics of ADRs in oncology. I am interested in identifying these ADRs, performing pharmacogenomics studies to uncover the genetic and mechanistic basis and implementing these in cost-effective, point-of-care pharmacogenetic ADR screening and prevention programs. I am also interested in pharmaocogenomic pharmacoethnicity in different populations, including Aboriginal populations in North America.
TDC: What are your career goals?
Dr. Aminkeng: My goals are to improve the efficacy and safety of medication use in oncology and to improve the design of new oncology drugs that will be highly effective and will not cause harm, through pharmacogenomic research, teaching, education and advocacy. Also, I have been giving seminars and hands-on workshops on human genetics to K-12 students and I am passionate about these and other outreach activities on human genetics in my career.
TDC: Why did you choose genetics as your field of study?
Dr. Aminkeng: The Human Genome Project inspired me to become a geneticist. In my undergraduate studies in medical laboratory sciences, I was pursuing a career option to become a medical virologist. It all changed on June 26th, 2000, when the then-U.S. President Bill Clinton and the British Prime Minister Tony Blair jointly announced the rough draft of the human genome. The benefits of these to understanding physiology, medicine and human evolution persuaded me that human genetics was and is the career pathway to contributing to the health of patients and the population and to having a significant impact in the world.
TDC: Describe yourself in three words.
Dr. Aminkeng: Proactive, results-driven, focused
The Trainee Paper Spotlight is a monthly feature highlighting outstanding papers written by trainee members of ASHG.