【特稿】全球首例 定制基因编辑疗法治疗婴儿罕见病初见成效

Core Insights - A rare disease case involving a baby named KJ Malden has shown promising results from a custom gene editing therapy, marking a potential breakthrough for treating rare genetic disorders [1][2] - The therapy utilized CRISPR technology to correct a genetic mutation causing CPS1 deficiency, a condition with high mortality rates and typically requiring liver transplants for treatment [1][3] Group 1: Treatment Details - KJ Malden, diagnosed with CPS1 deficiency shortly after birth, received the world's first custom gene editing therapy starting in February [1][2] - The treatment involved three intravenous infusions over several months, where lipid nanoparticles delivered "molecular scissors" to correct the mutation in liver cells [2] - Following the treatment, Malden has shown significant improvement, being able to consume a protein-rich diet and recover quickly from minor illnesses [2] Group 2: Industry Context - Approximately 350 million people worldwide suffer from rare diseases, many of which are caused by genetic mutations [3] - The CRISPR gene editing technology, which emerged in 2012, has gained recognition for its precision and efficiency, receiving the Nobel Prize in Chemistry in 2020 [3] - This case represents a significant step in applying gene editing technology to treat various rare diseases, with ongoing observation required to assess long-term effects [2][3]