A 10-month-old baby boy named KJ has made a remarkable recovery after receiving the first-of-its-kind gene-editing treatment for his rare genetic disease. Diagnosed with carbamoyl-phosphate synthetase 1 deficiency, a condition that affects only one in 1.3 million people and kills 50% of babies by early infancy, KJ was treated with CRISPR technology at the Children’s Hospital of Philadelphia.
After spending 307 days at the hospital, KJ was discharged home to his parents and siblings after his body began to thrive and he gained weight appropriate for a baby of his age. The treatment, designed specifically for KJ’s condition, has been hailed as a success, marking a major breakthrough in gene therapy treatments.
KJ’s doctors believe that CRISPR technology holds great promise for treating ultra-rare genetic diseases like his. “It’s like a GPS signal,” says Dr. Kiran Musunuru, director of the Penn Cardiovascular Institute’s Genetic and Epigenetic Origins of Disease Program. The treatment is still in its early stages, but with further development, it could potentially be used to treat more babies born with similar genetic errors.
KJ’s case highlights the potential of gene editing technology to revolutionize the treatment of rare genetic diseases. As research continues, hopes are high that this bespoke therapy could become a game-changer for families affected by such conditions.
Source: https://abcnews.go.com/Health/baby-saved-gene-editing-therapy-graduates-hospital-home/story?id=122487817