Mitochondrial Genetics, Oxygen, and Their Interaction in Disease

Vamsi K. Mootha, M.D., institute member, Broad Institute of MIT and Harvard; professor, department of medicine, Massachusetts General Hospital; professor, department of systems biology, Harvard Medical School; investigator, Howard Hughes Medical Institute

Dr. Vamsi Mootha will share two stories from his laboratory. First, he will present his lab's biobank-scale analyses of mtDNA copy number and heteroplasmy across hundreds of thousands of humans, yielding new insights into common diseases, aging, and how these mtDNA parameters covary with the nuclear genome. Second, he will review his lab’s work showcasing how hypoxia can alleviate mitochondrial disease in pre-clinical models, and present new work focused on mechanism and translation into the clinic. He will end by attempting to link his lab's findings to pivotal events in the early evolution of mitochondria.

Vamsi Mootha is an Investigator of Howard Hughes Medical Institute and directs a mitochondrial research laboratory at Massachusetts General Hospital/Broad Institute. His team characterized the mitochondrial proteome, elucidated all molecular components of the calcium uniporter, identified dozens of disease genes, and discovered that hypoxia can suppress diverse forms of mitochondrial dysfunction. Vamsi received his B.S. in Mathematical/Computational Sciences at Stanford, an M.D. from Harvard/MIT, trained in internal medicine at Brigham and Women's Hospital, before completing postdoctoral training at Whitehead Institute. He has received a MacArthur Prize and is an elected member of the National Academy of Sciences.