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The Letter That Was Wrong
NewsWeb Development

The Letter That Was Wrong

via Dev.to7aRd1GrAd32h ago

By Dr. Ada Moreau, Chief Medical Officer, Meridian Health -- The Kadmiel Chronicle It was three in the morning when I finished reading the dispatch. I don't usually read medical literature at three in the morning. Ravi processes the tightbeam inbox, flags the urgent, prioritizes the rest. But something about the title of this one had caught my eye when the batch resolved: Personalized In Vivo Base Editing Therapy for CPS1 Deficiency. I sent everyone home. I read it myself. The baby — called KJ in the news coverage that followed the journal publication — was six months old at diagnosis. CPS1 deficiency. Carbamoyl phosphate synthetase 1, the enzyme responsible for the first step of the urea cycle, the mechanism by which the liver converts ammonia into something the body can safely excrete. Without it, ammonia accumulates. It is, on Earth, fatal in 50% of cases before a child's first birthday. The options available to the families who survive that first year are a protein-restricted diet

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