Results for Translational Research

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. 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. Morgan is a resuscitation scientist who studies pediatric cardiac arrest and cardiopulmonary resuscitation (CPR) through both translational laboratory work and clinical studies. His focus is to identify disease-specific pathophysiology that can be specifically targeted during CPR.

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

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. 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. Laskin's research focuses on the conduct of clinical investigations and translational studies designed to target mechanisms to prevent, treat, or slow the progression of chronic kidney disease in immunosuppressed patients, including children receiving a bone marrow or kidney transplant.

Dr. Lambert's research focuses on understanding the mechanisms of inherited and acquired thrombocytopenia in pediatric patients. Using clinical translational methods to link discovery in rare platelet disorders with optimizing next-generation sequencing for clinical practice, she has been involved in the Undiagnosed Disease Network Program and the Frontier Program in Immune Dysregulation, incorporating genetics of platelet disorders and immunohematology.

Dr. Aplenc investigates ways to improve the outcomes of children with cancer, particularly acute myeloid leukemia, with clinical epidemiology studies and translational research.