Friday, May 16, 2025

A Gene-Editing Breakthrough Saves Infant With Rare Disease

 https://www.wsj.com/tech/biotech/crispr-gene-editing-therapy-philadelphia-infant-8fc3a2c5?mod=hp_listc_pos1

An infant in Philadelphia has been successfully treated with a customized Crispr gene-editing therapy for a rare and deadly disease, doctors reported Thursday—a breakthrough in the futuristic technology.

Two days after K.J. Muldoon was born prematurely, a neonatologist noticed he was sleepy and feeding poorly. The physician quickly ordered tests, which ultimately returned a grave diagnosis: a metabolic disease called severe carbamoyl phosphate synthetase 1 (CPS1) deficiency, caused by a genetic mutation. 

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