In a history-making breakthrough, a baby diagnosed with a rare genetic disorder was successfully treated with a customized CRISPR gene editing therapy by a team at Penn Medicine and the Children’s Hospital of Philadelphia.
Kiran Musunuru, MD, PhD, the Barry J. Gertz Professor for Translational Research at Penn Medicine, and Rebecca Ahrens-Nicklas, MD, PhD, Director of the Gene Therapy for Inherited Metabolic Disorders Frontier Program (GTIMD) at Children’s Hospital of Philadelphia and an Assistant Professor of Pediatrics at Penn Medicine, led the effort on treating nine-and-a-half-month-old KJ Muldoon.
After being diagnosed with CPS1 deficiency, a rare genetic disorder that prevents the body from eliminating toxic ammonia, KJ received a world-first, personalized gene-editing treatment designed to fix his exact DNA mutation. Read more here.