Results for Mitochondrial Disorders

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. 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.

Todd Kilbaugh, MD, is an anesthesiologist and pediatric intensivist with the Department of Anesthesiology and Critical Care Medicine, medical director of the ECMO Center, and director of the Resuscitation Science Center at Children's Hospital of Philadelphia. 

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. Ischiropoulos's research objectives are to develop and test novel therapeutics for long-chain fatty acid oxidation (LCFA) disorders, a collection of inherited metabolic diseases that affect the heart, liver and muscle. A second area of interest is the resolution of the nitric oxide signaling pathways at the proteome level in the cardiovascular and neuronal systems.

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.

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. Goncalves’ research focuses on pediatric primary mitochondrial disorders, in particular on quantitative magnetic resonance spectroscopy and absolute quantitative measurement of brain metabolites with LCModel.

Dr. Castracani’s research work is focused on the most common form of X-linked sideroblastic anemia which results from mutations in the ALAS2 gene and inhibits normal heme biosynthesis.