Inborn Errors of Metabolism | CHOP Research Institute
 

Inborn Errors of Metabolism

Cornerstone Blog

In Landmark Study, CHOP-Penn Team Treats Newborn With Base-Editing Therapy

Published on
May 15, 2025
Rebecca Ahrens-Nicklas, MD, PhD, holds newborn, KJ
The landmark study paves the way for researchers to customize the technology and treat other individual patients with genetic diseases caused by ultra-rare “N-of-1” variants.
Cornerstone Blog

CHOP Research Poster Day and Scientific Symposium: Celebrating Frontier Programs

Published on
May 13, 2025
CHOP Research Poster Day and Scientific Symposium
Scientists, staff, and students from CHOP and the University of Pennsylvania community celebrated the next generation of pediatric researchers and the continuation of collaborative scientific discovery at the Poster Day and Scientific Symposium.
Cornerstone Blog

CHOP-Penn Team Fast-tracking Gene Therapies to Treat Rare Metabolic Diseases

Published on
Jan 15, 2025
Grant Funds Gene Therapy Development for Metabolic Diseases
Researchers are creating a platform to help fast-track personalized gene-editing therapies for patients with urea cycle disorders.

Gene Therapy for Inherited Metabolic Disorders Program

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
Andrew C. Edmondson

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
Cornerstone Blog

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

Published on
May 10, 2021
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

Omics Study For CDG Patient

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

Lauren Krivitzky, PhD, ABPP-CN
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
Stephen R. Master

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

Ahrens-Nicklas Lab

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.