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Vamsi Mootha’s research focuses on mitochondria – organelles responsible for generating cellular energy that play a central role in apoptosis, ion homeostasis, metabolism, and biosynthesis. Working collaboratively with other researchers and clinicians, Mootha and his team combine modern tools of genomics and computation with classical biochemical physiology to study mitochondrial function in health and in disease. Their long-term goal is to use their findings to improve the diagnosis and treatment of a range of human diseases, from rare, inborn errors of metabolism to diabetes, neurodegeneration, and cancer.

New research led by HHMI Investigator Vamsi Mootha and Fumito Ichinose shows that breathing low-oxygen air slows the progression of Parkinson’s disease in a laboratory model, raising the possibility of a new paradigm for addressing the disease that affects more than 10 million people worldwide. Thirteen project teams involving 70 scientists from 29 institutions are collaborating on basic research targeted at preparedness for future emerging pathogens that could threaten human health. A gene editing tool based on a bacterial toxin can make precise changes to mitochondrial DNA inside cells. Hypoxia reverses brain damage caused by mitochondrial dysfunction, HHMI team finds. The approach might one day point to new therapies for people with Leigh syndrome and other mitochondrial disorders. HHMI scientists are among 84 newly elected members.