一日内两成果同登《自然》，新华医院医工交叉与基因治疗领域迎来重大突破

Group 1: Breakthroughs in Rare Disease Diagnosis - Shanghai Xinhua Hospital has developed DeepRare, the world's first traceable AI system for rare disease diagnosis, addressing the global challenge of diagnostic transparency [1][2] - DeepRare achieves a first diagnosis accuracy of 57.18% using only clinical phenotype information, and over 70.6% when incorporating genetic sequencing data, making it a valuable tool for grassroots hospitals lacking genetic testing capabilities [2] - The platform has attracted over 1,000 professional users and serves more than 600 top medical research institutions globally, with plans for a "Global AI Rare Disease Diagnosis Alliance" and a clinical validation program targeting 20,000 cases [2] Group 2: Advances in Gene Therapy for Neurodevelopmental Disorders - A collaborative team from Shanghai Xinhua Hospital and other institutions has made significant progress in gene therapy for neurodevelopmental diseases, including autism, through precise gene editing in the brain [3][4] - The team created a humanized mutation mouse model to simulate core symptoms for treatment research and developed a novel adenine base editor, TeABE, which minimizes the risk of genomic disruption compared to traditional methods [4] - Successful experiments in non-human primate models have demonstrated the feasibility of cross-species application of this technology, providing substantial preliminary data for future clinical trials [4][5]