Towards a platform for in vivo corrective editing of ultra-rare and N-of-1 metabolic disorders

June 2, 2025 at 12:30 pm US EDT

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Join us for a seminar spotlighting the groundbreaking case of KJ Muldoon— the first infant to receive a bespoke CRISPR gene-editing therapy developed in just six months. Diagnosed with severe CPS1 deficiency, a rare and often fatal metabolic disorder, KJ's condition was addressed by a team from the Children's Hospital of Philadelphia and Penn Medicine. Utilizing a precision technique called base editing, they corrected the faulty DNA responsible for the disease, leading to significant clinical improvements.

This seminar offers an opportunity to hear directly from the pioneering scientists behind this medical milestone: Dr. Rebecca Ahrens-Nicklas, Director of the Gene Therapy for Inherited Metabolic Disorders Frontier Program at CHOP, and Dr. Kiran Musunuru, the Barry J. Gertz Professor for Translational Research at Penn Medicine. They will share insights into the rapid development process, the collaborative efforts that made it possible, and the broader implications for personalized medicine.

An actively practicing cardiologist and committed teacher, Kiran Musunuru, M.D., Ph.D., M.P.H., M.L., M.R.A., is Professor of Cardiovascular Medicine, Genetics, and Pediatrics in the Perelman School of Medicine at the University of Pennsylvania. His research focuses on the development of novel gene editing therapies for the treatment of cardiovascular and metabolic diseases. He is a recipient of the Presidential Early Career Award for Scientists and Engineers from the White House, the American Heart Association's Award of Meritorious Achievement and Joseph A. Vita Award, the American Philosophical Society's Judson Daland Prize for Outstanding Achievement in Clinical Investigation, the American Federation for Medical Research's Outstanding Investigator Award, Harvard University's Fannie Cox Prize for Excellence in Science Teaching, and the University of Pennsylvania's Jane M. Glick Graduate Student Teaching Award. He recently served as Editor-in-Chief of the scientific journal Circulation: Genomic and Precision Medicine. He is author of The CRISPR Generation: The Story of the World's First Gene-Edited Babies and Genome Editing: A Practical Guide to Research and Clinical Applications. He is co-founder and Senior Scientific Advisor of Verve Therapeutics.

Rebecca Ahrens-Nicklas, MD, PhD,  The Children’s Hospital of Philadelphia and University of Pennsylvania

Dr. Ahrens-Nicklas is an Assistant Professor of Pediatrics and Human Genetics at The Children’s Hospital of Philadelphia and University of Pennsylvania.  She leads the CHOP Gene Therapies for Inherited Metabolic Disorders Frontier Program. As a clinical geneticist, she cares for children with rare inherited inborn errors of metabolism.  Her translational research laboratory focuses on developing novel molecular therapies for patients with neurometabolic disorders.