Results for Mitochondrial Disease

Dr. Falk is a Clinical Geneticist who serves as executive director of the Mitochondrial Medicine Frontier Program. Her translational research lab investigates the causes and global metabolic consequences of mitochondrial disease, as well as targeted therapies, in C. elegans, zebrafish, mouse, and human tissue models of genetic-based respiratory chain dysfunction.

Dr. Ortiz-Gonzalez is a physician-scientist specializing in pediatric neurogenetics. Her clinical work focuses on finding a unifying genetic diagnosis for children with rare neurodevelopmental disorders. Her research is informed by her patients and focuses on understanding how genetic changes, in particular those affecting mitochondrial function, cause disease so we can develop better treatments for these children in the future.

Dr. Wallace is a geneticist and evolutionary biologist who founded the field of mitochondrial medicine 40 years ago. He investigates the role of mitochondria in human evolution, health, and disease.

Dr. McCormack investigates the intersection of neuroendocrinology and metabolism. Her translational research program involves two areas. The first involves studying those with genetic disorders, including primary mitochondrial diseases and Friedreich's ataxia, with characterized risk for diabetes mellitus. Second, Dr. McCormack focuses on brain disorders associated with excess weight gain, including brain tumor-related hypothalamic obesity syndrome and idiopathic intracranial hypertension.

Dr. Pei's research aims to understand the molecular underpinnings of cardiac remodeling associated with cardiomyopathy and heart failure. He is particularly interested in two areas of cardiac remodeling: metabolic reprogramming, and secretion of heart-derived hormones to communicate with other organs.

Dr. Wang works on biomarker identification using multiparametric magnetic resonance imaging and homo- and hetero-nuclear spectroscopy techniques for pediatric disease research including  tumors, iron overload, cystic fibrosis, muscular dystrophy, autism, mitochondrial, Gaucher’s, and Canavan’s diseases.

Dr. Bailis aims to understand how metabolism underlies immunology and disease, by controlling the biochemistry of cells and tissues. His lab does so using in vitro and in vivo CRISPR engineering of primary human and mouse immune cells, with the goal of developing diet and metabolite based therapies.

Dr. Kelly’s research career began with deciphering the genetic basis of inborn errors in metabolism in children, followed by a series of breakthrough discoveries relevant to the diagnosis and treatment of common forms of heart failure in the general population.

Dr. Lynch maintains a dynamic program that involves clinical, translational, and basic science research efforts focused on the rare disease Friedreich ataxia.

Dr. Nissim is a biochemist and a pioneer in the application of stable isotopes, mass spectrometry, and nuclear magnetic resonance to study metabolome and fluxome and their coupling to genome in normal and disease states. His long-standing interest focuses on understanding the cause, mechanisms, and outcome of metabolic disorders.