A baby named KJ Muldoon has made medical history by becoming the first patient to receive a personalized gene-editing treatment. KJ was diagnosed with CPS1 deficiency, a rare genetic disorder affecting one in 1.3 million babies. This condition often leads to severe developmental delays and the need for a liver transplant, with half of affected infants not surviving beyond their first week of life. Instead of opting for palliative care, KJ’s parents decided to pursue an experimental treatment. Doctors at Children’s Hospital of Philadelphia developed a custom infusion designed to correct KJ’s specific genetic mutation. Now 9 ½ months old, KJ is thriving. The research team leading this effort presented their findings at the American Society of Cell & Gene Therapy’s annual meeting and published them in the New England Journal of Medicine.
— new from The New York Times