Today I wanted to take a moment to recognize a long-time Golden Helix customer, Dr. Folefac Aminkeng of the Canadian Pharmacogenomics Network for Drug Safety and the University of British Columbia on his recent publication A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancer, in Nature Genetics.
Aminkeng and his colleagues performed a genome-wide association study in 280 patients treated for childhood cancer to investigate the susceptibility to anthracycline-induced cardiotoxicity (ACT). ACT has been previously associated through candidate gene studies in the past, however studies lacked in size, replication and functional validation. However, the group’s work identified a nonsynonymous variant in RARG as being highly associated with ACT, altering function, which provides new insights into this severe drug reaction.
Aminkeng and his colleagues are working to make major impacts on clinical practice within the field of pharmacogenomics of adverse drug reactions in cancer therapeutics. For more information on Aminkeng’s work, read his case study here.