Research Interests

For the past twenty-five years, my colleagues and I have been studying the genetics of the human mitochondrion and the role of mitochondrial DNA (mtDNA) variation in human evolution and degenerataive diseases. In our early studies, we demonstrated that the human mtDNA could encode heritable traits, was maternally inherited, and had a high mutation rate. More recently, we have analyzed the continental distribution of common mtDNA polymorphisms and used this information to reconstruct the human family tree, trace the migration of women out of Africa and into various continents, and investigate the origins of Native Americans. Concurrently, we have demonstrated that deleterious mtDNA mutations are common and can cause a variety of degenerative diseases, including blindness, diabetes, epilepsy, movement disorders, and dementias. We are now exploring the possibility that the age-related accumulation of mtDNA mutations in tissues and organs may plan an important role in aging and senescence.

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Primary Section

Section 41: Medical Genetics, Hematology, and Oncology

Secondary Section

Section 51: Anthropology