2012 Gruber Genetics Prize
Douglas C. Wallace, widely considered the founder of mitochondrial genetics in humans, began his research in mitochondrial biology in the early 1970s, at a time when few people thought the study of mitochondria and its DNA (mtDNA) would offer any significant insight into human health and disease. In 1980, he published a landmark paper that demonstrated that the human mtDNA is inherited solely through the mother. A few years later, using maternal inheritance as a guide, he identified the first inherited mtDNA disease, Leber’s hereditary optic neuropathy (LHON), which causes sudden blindness. Wallace subsequently linked mtDNA mutations to a wide range of other 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 play a role in age-related diseases, such as heart disease, cancer, and dementia. In addition, Wallace’s research has 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.