Vamsi K. Mootha

My laboratory focuses on mitochondrial physiology and Mendelian mitochondrial disorders. We are particularly interested in applying genome-scale approaches to achieve a systems-level understanding of this organelle. In recent years we've combined computational and mass spectrometry approaches to define the organelle's proteome, which consists of over 1000 components encoded by the nuclear and mitochondrial genomes. We've coupled this inventory with human genetics approaches to discover the molecular basis of a large number of Mendelian mitochondrial disorders. We've also combined this inventory with integrative genomics and physiology to discover all of the molecular components of the mitochondrial calcium uniporter.