Vamsi Mootha, M.D.

Basic, Bioinformatics


Vamsi Mootha, M.D. (MGH/Broad, Molecular Biology) has dedicated his research program to apply genomics and systems biology approaches to study mitochondrial biology in health and in disease. His laboratory has combined computational and proteomics approaches to define the protein inventory of mitochondria. This inventory has served as a molecular framework for numerous labs around the world. By combining this inventory with human genetics, in collaboration with other key groups, his team has discovered over 15 novel Mendelian mitochondrial disease genes. They have used integrative genomics and classical biochemistry to discover the molecular machinery of the mitochondrial calcium uniporter. They have also been early adopters of next-generation sequencing and metabolomics to investigate the genetic and biochemical basis of rare mitochondrial disorders. Ongoing efforts are aimed at discovering the function of all mitochondrial proteins, deciphering mitochondrial pathogenesis in rare and common diseases, identifying novel biomarkers for mitochondrial function in humans, and using these network level insights to design new therapies for human disease. Much of his lab’s work has direct relevance to diabetes and metabolism.