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. 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. 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. Bhoj's genetics research aims to discover new human disease genes, their mechanisms, and potential targeted therapies. In addition to ongoing gene discovery efforts, Dr. Bhoj focuses on three novel genes that lead to pediatric neurologic dysfunction: TBC1 domain-containing kinase, Histone 3.3 (H3F3A and H3F3B), and MAP4K4.
Dr. Adamson serves as chair of the international consortium Children's Oncology Group and on the National Cancer Advisory Board. In addition to his national and international leadership roles in pediatric oncology, Dr. Adamson maintains a dynamic research program on pediatric clinical-translational drug development, with a strong focus on childhood cancer drug development.
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. 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. Deardorff’s work integrates patient information with genomics and cell biology to diagnosis and understand rare genetic disease. His research focuses on disorders caused by dysregulation of chromatin or altered translational regulation, specifically, Cornelia de Lange, Coffin-Siris, Skraban-Deardorff and KBG syndromes.
Dr. Sengupta is a neonatologist and physician scientist with a long-standing interest in lung health. She studies the mechanisms of circadian regulation of lung inflammation, injury, and repair; and the effect of early life exposures on development and function of pulmonary circadian networks in adulthood.