From Rare Disease to New Hope: How Gene Editing Changed KJ’s Future
An infant KJ was born with an ultra-rare genetic disorder – CPS1 (carbamoyl phosphate synthetase 1 ) deficiency, that affects one in every 1.3 million births and carries a mortality rate of about 50% in early infancy. CPS1 is the first enzyme in the urea cycle,thus its deficiency interferes with the Urea cycle and so […]
