Results for Metabolism

1 - 10 of 258

Dr. Kelly’s research career began with deciphering the genetic basis of inborn errors in metabolism in children, followed by a series of breakthrough discoveries relevant to the diagnosis and treatment of common forms of heart failure in the general population.

E-mail:

dankelly [at] pennmedicine.upenn.edu

Will Bailis, PhD

Dr. Bailis aims to understand how metabolism underlies immunology and disease, by controlling the biochemistry of cells and tissues. His lab does so using in vitro and in vivo CRISPR engineering of primary human and mouse immune cells, with the goal of developing diet and metabolite based therapies.

E-mail:

bailisw [at] chop.edu

Justin Berger, MD, PhD

Dr. Berger's research focus involves the development of pediatric heart failure and underlying metabolic drivers. He studies how improving metabolic dysregulation may also benefit cardiac dysfunction.

E-mail:

bergerj [at] chop.edu

Andrew Edmondson, MD, PhD

Dr. Edmondson is an attending physician with the Metabolic Disease Program and the Division of Human Genetics at CHOP, and an assistant professor of Pediatrics in the Perelman School of Medicine at the University of Pennsylvania. His research focuses on the study of glycosylation in the brain.

E-mail:

edmondsona [at] chop.edu

Fanxin Long, PhD

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.

E-mail:

longf1 [at] chop.edu

Rebecca C. Ahrens-Nicklas, MD, PhD

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.

E-mail:

ahrensnicklasr [at] chop.edu

Audrey R. Odom John, MD, PhD

Dr. John studies metabolism in the setting of pediatric infections, in order to identify new anti-infective drug targets, understand drug resistance, and develop new diagnostics.

E-mail:

johna3 [at] chop.edu

Charles A. Stanley, MD

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.

E-mail:

stanleyc [at] chop.edu

Shana E. McCormack, MD, MTR

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.

E-mail:

mccormacks1 [at] chop.edu

Marni J. Falk, MD

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.

E-mail:

falkm [at] chop.edu