Results for Translational Medicine

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. 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. Rubenstein's research focuses on basic and translational studies of novel means to improve outcomes in cystic fibrosis. He initially focused on correcting the dysfunction of mutant cystic fibrosis transmembrane conductance regulator (CFTR) proteins, which led him to study how molecular chaperones regulate the biogenesis and trafficking of CFTR and other proteins that are relevant to cystic fibrosis.

Dr. Hakonarson is director of the Center for Applied Genomics and professor of Pediatrics at the Perelman School of Medicine, University of Pennsylvania. He leads a $40 million commitment from Children’s Hospital of Philadelphia to genomically characterize approximately 100,000 children, an initiative that has gained nationwide attention in the Wall Street Journal, New York Times, Time Magazine, Nature, and Science.

Dr. Berg is a resuscitation scientist with extensive clinical and preclinical translational laboratory experience in the areas of cardiac arrest, VF, defibrillation, and personalized physiologic-directed CPR. He has substantial expertise in conducting multicenter observational and interventional trials.

Dr. Tapia's research program focuses on understanding the central nervous system complications of obstructive sleep apnea in children.

Dr. Moorthy’s research focuses on liquid chromatography-tandem mass spectrometry assays for translational research. He is an expert in developing and validating analytical methods and their implementation for pediatric and adult clinical sample analysis.

Dr. Shah's research is centered on understanding obesity and its related complications. Her current work includes clinical and translational studies exploring pathophysiology and modulation of obesity-related adipose tissue and systemic inflammation using human cell lines and clinical trials. She is also involved in clinical studies of outcomes and risk factors of polycystic ovarian syndrome and type 2 diabetes in teens.

Dr. Ginsburg’s research focuses on facilitating youth to develop their own solutions to social problems and to teach clinicians how to better serve them. His current focus is on translating the best of what is known from research and practice into practical approaches parents, professionals, and communities can use to build resilience.

Dr. Pinney investigates the molecular mechanisms that link an adverse intrauterine milieu to the development of diabetes and obesity later in life. Specifically, she is researching how intrauterine growth restriction, gestational diabetes and in utero exposure to environmental toxicants contribute to the development of diabetes and obesity in offspring.