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.
Bone disorders exact a considerable toll on human health in both children and adults. Dr. Long seeks to understand the fundamental mechanisms underlying both normal skeletal development and the pathophysiology of bone diseases. His current research includes studies of skeletal stem cells and progenitors, metabolic regulation of bone cells, and the integration of bone and whole-body metabolism.
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. Ahrens-Nicklas works to understand why patients with inherited biochemical disorders often suffer severe, untreatable neurologic and cardiac symptoms. She strives to elucidate the link between biochemistry and network excitability, in order to drive new approaches to therapy.
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. Stanley’s lab has identified many of the genes and syndromes associated with congenital hyperinsulinism including ABCC8, GCK, GLUD1, and Turner and Beckwith syndromes. Working with clinical and rodent model studies, his lab team has identified distinctive phenotypes of these disorders, including diazoxide unresponsiveness, leucine sensitivity, and protein sensitivity. Dr. Stanley continues to seek new diagnostic and treatment paradigms for infants with acquired and genetic disorders of hyperinsulinism.
Dr. John studies the malaria parasite, Plasmodium falciparum, to understand its basic molecular and cellular biology and functions of its specific metabolic pathways — what the parasite needs to make and why it needs to make it — to identify new antimalarial drug targets and develop new diagnostics.
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.