世界首例：极限操作6个月，他们成功编辑了婴儿突变基因，治疗其罕见遗传病

Core Viewpoint - A significant medical breakthrough has been achieved by a research team from the Children's Hospital of Philadelphia and the University of Pennsylvania, marking the first instance of a patient-specific gene editing therapy successfully treating a rare genetic disease in a single patient [2][5]. Group 1: Disease Overview - The patient, KJ Muldoon, was diagnosed with Carbamoyl Phosphate Synthetase 1 (CPS1) deficiency shortly after birth, a rare and severe recessive genetic disorder with an incidence rate of 1 in 1.3 million newborns [5]. - CPS1 deficiency is the most severe urea cycle disorder, leading to ammonia accumulation in the blood, which can cause organ damage, particularly to the brain and liver, with a mortality rate of up to 50% in early infancy without timely treatment [7]. Group 2: Treatment Development - Traditional methods for treating CPS1 deficiency are limited and include dialysis, ammonia scavengers, protein intake restriction, and late-stage liver transplantation, which do not effectively prevent neurological damage [7]. - The research team utilized base editing technology, a next-generation gene editing technique developed by Professor David Liu, which allows for precise repair of pathogenic mutations without relying on DNA double-strand breaks [8]. - KJ's specific genetic mutations were identified, making him a suitable candidate for the base editing approach, leading to the rapid development of a customized therapy [8][10]. Group 3: Treatment Process and Results - The entire process of development, validation, production, and regulatory approval for KJ's therapy took only six months, during which he was hospitalized and required strict dietary management [10]. - KJ received the experimental base editing therapy in February 2025, followed by additional doses in March and April, with no severe side effects reported [13]. - Post-treatment, KJ showed significant improvements, including the ability to tolerate more protein intake, a reduction in ammonia scavenger dosage, and recovery from common childhood illnesses without elevated ammonia levels [13]. Group 4: Future Implications - The research team expressed optimism that the initial results could lead to similar outcomes for other patients and encourage further research into rare diseases using this method [16]. - The success of this case represents a potential paradigm shift in the approach to gene therapy, bringing the long-promised benefits of gene therapy closer to reality [16].