When KJ Muldoon was born at Children's Hospital of Philadelphia (CHOP) in August, doctors noticed that he was lethargic. They carried out tests that revealed he had a genetic metabolic disorder that leads to the buildup of ammonia and can cause brain damage and death. Gene sequencing helped them determine the exact location of the error that led to him being unable to make a vital enzyme. This allowed doctors to use CRISPR technology to create a treatment tailored specifically towards his unique mutation. After three infusions containing billions of gene editors, his defect appears to have been corrected and his condition, at least partially reversed. "This is an important first step towards an entirely new type of personalized medicine. I think it's going to utterly transform the way we practice medicine, particularly in the area of rare diseases," says Dr. Kiran Musunuru, a professor for translational research at the University of Pennsylvania, who worked on KJ's case. See the @npr story at the first link. There's a link to the original article in the New England Journal of Medicine at the second link.
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