Tag : CPS1

In a world-first, researchers designed, tested, and delivered a personalized CRISPR therapy to an infant with a fatal urea cycle disorder. The treatment specifically targeted a rare mutation in the carbamoyl phosphate synthetase 1 (CPS1) gene, was delivered using lipid nanoparticles, and demonstrated early clinical benefit, including enhanced protein tolerance and improved metabolic stability. Published in The New England Journal of Medicine, this breakthrough, led by researchers from the Children’s Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, demonstrates the potential of gene editing in treating ultra-rare diseases and underscores a promising future for genomic medicine.