The AP (5/15, Ungar) reports that a “baby born with a rare and dangerous genetic disease is growing and thriving after getting an experimental gene editing treatment made just for him.” In a study published in The New England Journal of Medicine, researchers said the child is “among the first to be successfully treated with a custom therapy that seeks to fix a tiny but critical error in his genetic code that kills half of affected infants.” The infant, KJ Muldoon, was “diagnosed shortly after birth with severe CPS1 deficiency, estimated by some experts to affect around one in a million babies. Those infants lack an enzyme needed to help remove ammonia from the body, so it can build up in their blood and become toxic.” Researchers at the Children’s Hospital of Philadelphia and Penn Medicine “created a therapy designed to correct KJ’s faulty gene. They used CRISPR, the gene editing tool that won its inventors the Nobel Prize in 2020.” The New York Times (5/15, Kolata) reports researchers believe the “implications of the treatment go far beyond treating KJ.” More than 30 million people in the US “have one of more than 7,000 rare genetic diseases.” KJ’s treatment “offers a new path for companies to develop personalized treatments without going through years of expensive development and testing.” While KJ’s treatment was “customized so CRISPR found just his mutation, the same sort of method could be adapted and used over and over again to fix mutations in other places on a person’s DNA.” The Washington Post (5/15, Y. Johnson) adds that while it is still “very early days...KJ – now nearly 10 months old – is showing signs of clinical benefit from his personalized treatment.”
