PHILADELPHIA –- University of Pennsylvania geneticist Sarah A. Tishkoff is among 18 recipients of the 2009 National Institutes of Health’s Pioneer Award. She and her fellow honorees are being honored at NIH headquarters in Bethesda, Md., today.

Tishkoff, the David and Lyn Silfen University Associate Professor and a Penn Integrates Knowledge Professor, is a leading global expert in human genetics with joint appointments in the Department of Genetics in the School of Medicine and the Department of Biology in the School of Arts and Sciences.

The Pioneer Award provides $500,000 in funding each year for five years, totaling $2.5 million in support of a small number of investigators of exceptional creativity who propose bold and highly innovative new research approaches that have the potential to produce a major impact on broad, important problems in biomedical and behavioral research. The program emphasizes the potential to make seminal contributions toward solving important biomedical or behavioral research problems, the innovativeness of the projects, the significance of the problems and the likelihood that, if successful, the projects will have a significant impact.

"Sarah Tishkoff’s groundbreaking research in human genetics results from her boundless creativity coupled with the kind of interdisciplinary thinking needed to unlock the mysteries of human existence,” Penn President Amy Gutmann said. “Her remarkable discoveries that combine insights of genetics, biology, sociology and anthropology demonstrate how much universities can deepen our understanding of the human condition by integrating knowledge across disciplines. The entire Penn family joins me in congratulating her on this significant honor, as well as the extraordinary example she sets as an educator.”

Tishkoff works primarily in Africa, where she has compiled the world’s most extensive DNA database, representing more than 7,000 Africans from more than 100 ethnic groups. Her research examines how genetic variations and genetic diversity can affect a wide range of practical issues, including, for example, differences in human susceptibility to disease, metabolism of drugs and evolutionary adaptation.

Tishkoff’s most recent work involved a 10-year collaboration with African, American and European researchers working on the largest-ever study of African genetic data — more than 4 million genotypes — to provide a library of new information on the continent which is thought to be the source of the oldest settlements of modern humans. The study demonstrated startling diversity and shared ancestry among geographically diverse groups, and it traced the origins of Africans and African-Americans. Researchers studied 121 African populations, four African-American populations and 60 non-African populations for patterns of variation at 1327 DNA markers, finding more genetic diversity in Africa than anywhere else on earth.

A slide show of the team’s fieldwork, with audio, is available at www.sas.upenn.edu/home/SASFrontiers/tishkoff.html.

Tishkoff plans to use funding from the Pioneer Award to characterize genetic and phenotypic variation in ethnically and geographically diverse Africans living in distinct environments and to explore the interactive effects of genomic variation, gene expression, metabolism and the environment on normal variable traits. The goal is to understand how genetics and the environment influence physiologic traits, with focus on traits that play a role in common diseases including diabetes, hypertension, obesity and cardiovascular disease. An understanding of the genetic architecture of these traits in healthy individuals will help scientists understand why some individuals, when exposed to different environments, develop disease.

In addition, characterizing genetic and phenotypic variation among ethnically diverse Africans will be critically important for better understanding of differential susceptibility to disease and differential response to pharmacological agents in individuals of recent African descent and for developing more effective preventive efforts and treatments in globally diverse populations.

“One of the major challenges in the post-genomic era is understanding the complex web of genetic, developmental, physiological and environmental interactions underlying continuous trait variation, including susceptibility to disease,” Tishkoff said. “Equally important is understanding how our molecular networks are influenced by environmental factors including diet, lifestyle and infectious-disease status. This work will produce fundamental insights into the genetic, epigenetic and environmental factors that play a role in health and disease and will expand our understanding of human evolutionary history.”

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