Africa is thought to be the ancestral homeland of all modern human populations. It is also a region of tremendous cultural, environmental and genetic diversity. Differences in diet, climate, and exposure to pathogens among ethnically and geographically diverse African populations have produced divergent selection pressures, resulting in local genetic adaptations, including some that play a role in disease susceptibility. A number of common complex diseases (including hypertension, diabetes, and chronic kidney disease) occur at higher frequency in people of African descent and are rapidly on the rise in urban regions of Africa. And yet, most human genomic studies have focused on non-African populations. The under-representation of ethnically diverse populations impedes our ability to fully understand the genetic and environmental factors influencing complex traits and may exacerbate health inequalities. A comprehensive knowledge of patterns of variation in African genomes is critical for a deeper understanding of human genomic diversity, the identification of functionally important genetic variation, the genetic basis of adaptation to diverse environments and diets, and the origins of modern humans. We use an integrative and functional genomics approach to characterize patterns of genomic variation, ancestry, and local adaptation across ethnically and geographically diverse African populations, leading to identification of novel genetic variants that play a role in immune response, metabolism, and skin pigmentation.
About Dr. Tishkoff:
Sarah Tishkoff is the David and Lyn Silfen University Professor in Genetics and Biology at the University of Pennsylvania, holding appointments in the School of Medicine and the School of Arts and Sciences.
Dr. Tishkoff studies genomic and phenotypic variation in ethnically diverse Africans. Her research combines field work, laboratory research, and computational methods to examine African population history and how genetic variation can affect a wide range of practical issues – for example, why humans have different susceptibility to disease, how they metabolize drugs, and how they adapt through evolution.
Dr. Tishkoff is a member of the National Academy of Sciences and a recipient of an NIH Pioneer Award, a David and Lucile Packard Career Award, a Burroughs/Wellcome Fund Career Award, and a Penn Integrates Knowledge (PIK) endowed chair. She is a member of the board of directors of the American Society of Human Genetics and is on the editorial boards at PLOS Genetics, Genome Research; Evolution, Medicine, and Public Health; G3 (Genes, Genomes, and Genetics).
Her research is supported by grants from the National Institutes of Health and the National Science Foundation.
Link to the Tishkoff Lab Website: https://www.med.upenn.edu/tishkoff/index.html