On March 6, two scientists at opposite ends of their careers shared their efforts to reveal the genetic underpinnings of human disease during the annual Vanderbilt Prize Discovery Lecture held in Vanderbilt University Medical Center’s Light Hall.
Sarah Tishkoff, PhD, a renowned human geneticist at the University of Pennsylvania, was awarded the 2024 Vanderbilt Prize in Biomedical Science by Jennifer Pietenpol, PhD, VUMC Chief Scientific and Strategy Officer and Executive Vice President for Research.
Following an introduction by John Kuriyan, PhD, Dean of the School of Medicine Basic Sciences, Tishkoff described her groundbreaking research during a talk titled “African Evolutionary Genomics: Reconstructing Human Evolution and the Genetic Basis of Complex Adaptive Traits.”
Tishkoff began her talk with a question.
“Why Africa?” she asked. “Well, it’s the place where all modern humans originated.”
The relevance of Tishkoff’s work to humans living today is evidenced by her group’s discovery of a genetic mutation emerging over thousands of years that confers resistance to malaria, and the convergent evolution of cattle domestication and the persistence of the lactase gene, which is associated with the ability to digest milk.
Yet only about 2% of genome-wide association studies, an important method for identifying genetic contributions to disease, have been conducted in people of African ancestry. “That’s really problematic,” Tishkoff said, “because it’s going to impede our ability to understand genetic and environmental risk factors for disease.”
Before Tishkoff’s talk, Kimberlyn Ellis, a graduate student in the Vanderbilt Training Program in Human Genetics, described her research in a mini-lecture titled “Deriving and Utilizing the Rich Tapestry of Local Ancestry in Admixed Populations.” She was introduced by Walter Chazin, PhD, senior associate dean of Biomedical Research Education and Training.
As the 2024 Vanderbilt Prize Student Scholar, Ellis is being mentored by Tishkoff, who was selected to receive the 19th Vanderbilt Prize in Biomedical Science last year in part because of her strong commitment to mentoring the next generation of scientists.
Ellis discussed her efforts to quantify the effects of genetic ancestry, sex and social risk factors on chronic disease in populations with significant proportions of African ancestry, by analyzing the whole genome sequences of thousands of individuals provided through the Alliance for Genomic Discovery (AGD).
Launched in 2022 by Nashville Biosciences, LLC, a genomic and clinical data company and wholly owned subsidiary of VUMC, and global DNA sequencing giant Illumina Inc., AGD now includes eight major pharmaceutical companies.
Among those attending the lecture were Ellis’ two Vanderbilt mentors — Jennifer (Piper) Below, PhD, professor of Medicine in the Division of Genetic Medicine, and Ellen Wright Clayton, MD, JD, the Craig-Weaver Professor of Pediatrics, professor of Law and a member of the Vanderbilt Center for Biomedical Ethics and Society. Below holds the Robert A. Goodwin, Jr., MD Directorship in Medicine.
Ellis has said that her long-term goal as a computational geneticist is to bridge genomics, bioethics and health policy. She has embraced her mentors’ commitment to the highest standards of research and community engagement.
These qualities, and the dedication to mentorship, “exemplify the spirit of the Vanderbilt Prize,” noted Pietenpol, who holds the Brock Family Directorship in Career Development.
