Discovery and Basic Research
Kathleen Giacomini, PhD (she/her/hers)
Dean- School of Pharmacy
University of California, San Francisco
San Francisco, California
Wei Yue, PhD (she/her/hers)
Associate Professor
University of Oklahoma Health Sciences Center
Oklahoma City, Oklahoma
Health disparities are frequently attributed to lack of access to healthcare for under-represented minorities and people who are socioeconomically disadvantaged, who may not be insured or who are victims of cultural biases which exclude their full access to contemporary healthcare. Further, disparities have been attributed to biases in clinical research including clinical trials, which have focused primarily on populations of European ancestry. Thus, clinical information is simply lacking in certain populations. In sharp contrast, little attention has been paid to the biases in basic and even translational research, which also contribute to health disparities. In this keynote lecture, using examples from transporter genomics, I will describe new research and challenges in pharmacogenomics aimed at providing fundamental knowledge to inform precision medicine for all populations. I will focus on recently published research in newborn screening focused on the carnitine transporter, OCTN2 (SLC22A5), in which mutations lead to Carnitine Transporter Deficiency. In addition, I will describe recent research using deep mutational scanning to functionally characterize mutations in the organic cation transporter, OCT1 (SLC22A1). Results in African Americans, East Asians, Europeans, Hispanics and South Asians demonstrating that each population has their own unique variants as well as a set of shared variants will be presented. Though clinical and functional implications of shared variants in membrane transporters have been studied, population specific variants, particularly for populations that are not European or East Asian, have been poorly characterized. I will end the presentation with conclusions and future directions in basic and translational research needed to support equitable healthcare for all.