Dr. Rebecca Ahrens-Nicklas is an Assistant Professor of Pediatrics in the Division of Human Genetics and Metabolism at The Children’s Hospital of Philadelphia (CHOP) and the University of Pennsylvania. She directs the Gene Therapy for Inherited Metabolic Diseases Frontier Program at CHOP.  After completing MD/PhD training in Physiology and Biophysics, she pursued clinical training in Pediatrics, Clinical Genetics, and Metabolism. She cares for children with rare diseases, with a special interest in neurometabolic disorders. She opened her research laboratory in 2019.  Her team studies the pathologic mechanisms underlying rare metabolic diseases to guide therapy development. She also partners with advocacy groups to conduct natural history and biomarker studies to promote clinical trial readiness for these rare conditions.

She has successfully demonstrated proof-of-concept for a variety of genomic therapies for metabolic disorders including ex vivo lentiviral and in vivo AAV gene therapies for neuronopathic lysosomal storage disorders and in vivo gene editing therapies for hepatic metabolic disorders. She is advancing her preclinical work into first-in-human clinical studies. She co-leads a first-in-human AAV gene therapy program for Multiple Sulfatase Deficiency as part of the Bespoke Gene Therapy Consortium of the Foundation for the NIH.  Through this effort, she is working to establish a translational roadmap for rare disease gene therapies that can be shared and applied to many orphan diseases. In addition, with support of the Somatic Cell Genome Editing Consortium of the NIH, she recently co-led the team that developed the first in vivo personalized gene editing therapeutic for a patient with a severe, ultra-rare urea cycle disorder. She has published more than 85 peer-reviewed studies and has been the recipient of numerous awards including the Richard King Award from the American College of Medical Genetics and the Outstanding New Investigator Award from the American Society of Gene and Cell Therapies.