Physician Investigator (NonCl) Molecular Biology, Mass General Research Institute

Professor of Systems Biology Harvard Medical School

Professor of Medicine Harvard Medical School

Institute Member Broad Institute

Investigator Howard Hughes Medical Institute

calcium channels; dna mitochondrial; frataxin; friedreich ataxia; leigh disease; mitochondria; mitochondrial diseases; mitochondrial membrane transport proteins; mitochondrial proteins; oxidative phosphorylation

Dual localized at the Massachusetts General Hospital and the Broad Institute of MIT and Harvard, our laboratory focuses on mitochondria, often referred to as the powerhouse of the cell. These organelles are found in virtually all of our body’s cells and are responsible for generating the bulk of cellular ATP.  In addition, the organelle plays a central role in apoptosis, ion homeostasis, intermediary metabolism, and biosynthesis.

Studies during the past 25 years have demonstrated a clear role of the mitochondrion in rare, inborn errors of metabolism. More recent studies, including those from our group, have implicated mitochondrial dysfunction in a variety of common human diseases, such as diabetes, neurodegeneration, and the aging process itself. 

Contrary to popular belief, the mitochondrion is incredibly dynamic.  Its protein composition and functional properties vary across cell types, remodel during development, and respond to external stimuli. Mitochondria contain their own genome (referred to as mtDNA) which encode a mere 13 proteins. All the other estimated 1000+ proteins are encoded in the nuclear genome and imported into this cellular compartment.

We use the new tools of genomics in combination with biochemical physiology to systematically explore mitochondrial function in health and in disease. We focus on rare, monogenic syndromes as well as common diseases. The long-term goal of our lab is to develop predictive models of mitochondrial physiology that can aid in the diagnosis and treatment of a broad range of human diseases.

Our team consists of biologists, computer scientists, and clinicians that work together in a highly collaborative environment.  The laboratory is currently supported by grants from the National Institutes of Health (NIGMS, NIDDK, NHGRI), the Howard Hughes Medical Institute, and the Nestle Research Center.