For the first time, scientists say they have reached into the genome of a severely ill child and rewritten the unique misspelling in his DNA.
The results, published in the New England Journal of Medicine on Thursday, are a landmark in the 50-year quest to read and repair the code of life. The boy, a now 9.5-month-old named KJ, was diagnosed days after birth with an ultra-rare disease that impairs his liver’s ability to process ammonia, which can build up and cause permanent brain damage or death.
KJ had been living in the hospital, waiting until he was old enough to receive a liver transplant. Instead, at 6 months, doctors administered the first dose of the gene editing treatment. They have since been able to loosen a strict low-protein diet and reduce his daily ammonia-lowering medications by half.
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