Dr. Rebecca Ahrens-Nicklas is an Assistant Professor of Pediatrics in the Division of Human Genetics at The Children’s Hospital of Philadelphia (CHOP) and the University of Pennsylvania and directs the Gene Therapy for Inherited Metabolic Diseases Frontier Program at CHOP. She completed MD/PhD training in Physiology and Biophysics followed by clinical training in Pediatrics, Clinical Genetics, and Metabolism. She cares for children with rare diseases—particularly neurometabolic disorders—and combines clinical work with translational research to accelerate therapy development.
Her laboratory pursues gene discovery and investigates the molecular and cellular mechanisms that drive rare disease pathology, with the goal of translating those insights into targeted treatments. She partners closely with patient advocacy groups to conduct natural history and biomarker studies that enhance clinical-trial readiness and meaningful outcome measurement. Her research includes development and evaluation of gene replacement and gene editing strategies. Most recently, she co-led the development of the first personalized in vivo gene editing approach for a patient with a rare urea cycle defect