PHILADELPHIA Douglas C. Wallace, PhD, professor of Pathology and Laboratory Medicine, at the Perelman School of Medicine, University of Pennsylvania, is the recipient of the 2012 Genetics Prize of the Gruber Foundation. Wallace is a pioneering genetics researcher who founded the field of mitochondrial genetics in humans. He is also the director of the Center for Mitochondrial and Epigenomic Medicine at The Children’s Hospital of Philadelphia.

Wallace is being honored with this prestigious international award for his groundbreaking achievements in understanding the role of mitochondriathe “power plants” of cellsin the development of disease and as markers for human evolution. He is also being honored for training and inspiring numerous pre- and postdoctoral students who have gone on to have distinguished careers of their own.

Wallace will receive the award on November 9 at the annual meeting of the American Society of Human Genetics in San Francisco. The Gruber Foundation, now based at Yale University, announced the Genetics Prize on June 28. The Foundation’s Genetics Prize annually honors leading scientists for groundbreaking contributions to genetics research. The Peter and Patricia Gruber Foundation’s International Prize Program honors contemporary individuals in the fields of Cosmology, Genetics, Neuroscience, Justice and Women’s Rights, whose groundbreaking work provides new models that inspire and enable fundamental shifts in knowledge and culture. The Gruber Foundation’s Genetics Prize, a gold medal and an unrestricted $500,000 cash award for fundamental insights in the field of genetics, was established in 2001.

“Douglas Wallace’s contributions to our understanding of mitochondrial genetics have changed the way human and medical geneticists think about the role of mitochondria in human health and disease.” said Elizabeth Blackburn, chair of the Selection Advisory Board to the Prize. Blackburn is the 2006 Gruber Genetics Prize laureate and shared the 2009 Nobel Prize in Physiology and Medicine.

Wallace began his research on mitochondrial biology 40 years ago, at a time when few people thought the study of mitochondria and its DNA (mtDNA) would have any significant applications for clinical medicine. In the late 1970s, Wallace demonstrated that human mtDNA is inherited solely through the mother. Using maternal inheritance as a guide, Wallace identified the first inherited mtDNA disease -Leber’s hereditary optic neuropathy – and subsequently linked mtDNA mutations to a wide range of clinical symptoms, including deafness, neuropsychiatric disorders, cardiac and muscle problems, and metabolic diseases such as diabetes. Wallace also showed that mtDNA mutations accumulate in human tissue with age, and thus may play a role in age-related diseases, such as heart disease and cancer. In addition, he found that the levels of these age-related mtDNA mutations are higher in the brains of people with certain neurodegenerative diseases, including Alzheimer disease, Parkinson disease, and Huntington disease.

Wallace’s research has also made a major contribution to the field of molecular anthropology. Using mtDNA variation, he has reconstructed the origins and ancient migrations of women, tracing all mtDNA lineages back some 200,000 years to a single African origin the so-called mitochondrial Eve.

Wallace holds the Michael and Charles Barnett Endowed Chair in Pediatric Mitochondrial Medicine at Children’s Hospital. He is a member of the National Academy of Sciences, as well as the Academy’s Institute of Medicine, and is also a member of the American Academy of Arts and Sciences. Wallace joined the Penn Department of Pathology and Laboratory Medicine in 2010 and previously held academic positions at Stanford University, at Emory University, where he chaired the Department of Genetics and Molecular Medicine, and most recently at the University of California Irvine, where he was Director of the Center for Molecular and Mitochondrial Medicine and Genetics.

For more information, read the Gruber Foundation news release.

The Perelman School of Medicine is currently ranked #2 in U.S. News & World Report’s survey of research-oriented medical schools. The School is consistently among the nation’s top recipients of funding from the National Institutes of Health, with $479.3 million awarded in the 2011 fiscal year.

The University of Pennsylvania Health System’s patient care facilities include: The Hospital of the University of Pennsylvania — recognized as one of the nation’s top 10 hospitals by U.S. News & World Report; Penn Presbyterian Medical Center; and Pennsylvania Hospital the nation’s first hospital, founded in 1751. Penn Medicine also includes additional patient care facilities and services throughout the Philadelphia region.

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