Inborn Errors of Metabolism | CHOP Research Institute

Gene Therapy for Inherited Metabolic Disorders Program

Providing cutting-edge molecular therapies for patients with inborn errors of metabolism in a first of its kind, word-class clinic.

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

Faculty Spotlight: ‘Bench to Bedside and Back’ With Rebecca Ahrens-Nicklas, MD, PhD

Published on

May 10, 2021

in Cornerstone Blog

Faculty Spotlight: ‘Bench to Bedside and Back’ With Rebecca Ahrens-Nicklas, MD, PhD

Meet our featured Faculty Spotlight scientist for May, Rebecca Ahrens-Nicklas, MD, PhD, assistant professor of Pediatrics at CHOP.

Omics Study For CDG Patient

This is an intergrated study of patients with congenital glycosylation disorder.

Lauren Krivitzky, PhD, ABPP-CN

Dr. Krivitzky's research focuses on cognitive, behavioral, and social outcomes in pediatric stroke and related vascular conditions. She also has an interest in studying outcomes in children and adults with inborn errors of metabolism.

E-mail:

krivitzkyl [at] chop.edu

Stephen R. Master, MD, PhD

Dr. Master works to understand the biochemical pathways related to inborn errors of metabolism, particularly as they relate to mitochondrial function. He also focuses on bioinformatics and machine learning solutions to problems in mass spectrometry and laboratory medicine.

E-mail:

masters [at] chop.edu

Ahrens-Nicklas Laboratory

The Ahrens-Nicklas lab combines translational studies in patients with molecular, biochemical, and electrophysiologic studies working with animal models to develop novel therapies for rare inherited pediatric disorders.

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