Doctors Deliver World’s First Personalized CRISPR Therapy to Infant with Rare Genetic Disease

In a groundbreaking medical achievement, a personalized CRISPR base-editing therapy was developed and administered to an infant named KJ Muldoon, born with a rare and often fatal genetic disorder called carbamoyl-phosphate synthetase 1 (CPS1) deficiency. This bespoke treatment, created within six months by a collaborative team including the Children's Hospital of Philadelphia, the University of Pennsylvania, and the University of California, Berkeley’s Innovative Genomics Institute, was tailored specifically to correct KJ's unique genetic mutation impairing his ability to process protein and clear ammonia from his body. After receiving multiple doses of the lipid nanoparticle-delivered therapy, KJ showed significant clinical improvements, including increased dietary protein tolerance, reduced medication needs, and developmental milestones previously thought unattainable, all without serious adverse events. The therapy's rapid development and successful application mark a milestone in gene-editing medicine, demonstrating the feasibility of 'N-of-1' customized treatments for ultra-rare genetic diseases and potentially reducing the need for invasive interventions like liver transplants. Experts emphasize that while this is a promising proof of concept, it remains early to declare a cure, and ongoing observation will inform future personalized gene therapies. This case sets a precedent for on-demand, patient-specific CRISPR treatments, offering hope for many with previously untreatable genetic conditions.