The National Institutes of Health (NIH) announced that a research team they support “has developed and safely delivered a personalized gene editing therapy to treat an infant with a life-threatening, incurable genetic disease.”
The patient suffered from a rare disease called carbamoyl phosphate synthetase 1 (CPS1) deficiency. According to a release, “the process, from diagnosis to treatment, took only six months and marks the first time the technology has been successfully deployed to treat a human patient.”
The treatment was created by scientists from the Children’s Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania (Penn) using CRISPR. They were able to fix “a specific gene mutation in the baby’s liver cells that led to the disorder.”
