Core Points - Beijing has 74 medical institutions capable of diagnosing and treating rare diseases, an increase from 29 in the previous year [1] - The list of medical institutions is updated regularly based on the National Health Commission's published directories of rare diseases [1] - Specific institutions are publicly listed for certain rare diseases, such as 12 institutions for Albinism and several for Congenital Scoliosis [1] Summary by Category Medical Institutions - The number of medical institutions with rare disease treatment capabilities has increased significantly from 29 to 74 [1] - The updated directory includes a comprehensive list of institutions that can treat the 207 rare diseases identified by the National Health Commission [1] Rare Diseases - The directory covers 207 rare diseases, with specific institutions named for diseases like Albinism and Congenital Scoliosis [1] - Institutions such as Beijing Ditan Hospital and Peking Union Medical College Hospital are among those listed for specific rare diseases [1] Patient Access - Patients can download the updated list of medical institutions and search for their specific disease to find appropriate care [2] - Online appointment booking options are available for patients to facilitate access to these medical services [2]

Core Insights - The forum on rare diseases highlighted the significant challenges in diagnosis and treatment, with approximately 7,000 to 10,000 known rare diseases, 80% of which are genetic, and only about 5% having effective specific treatments [2] - There are over 300 million rare disease patients globally, with an estimated 20 million in China, facing issues such as insufficient research on pathogenic mechanisms, difficulties in early screening, low social acceptance, and inadequate long-term management and payment guarantees [2] Group 1 - The director of the Department of Pediatrics at Huazhong University of Science and Technology emphasized the uneven distribution of diagnostic capabilities across regions in China, leading to a 3 to 5 year gap between consultation and diagnosis for pediatric rare diseases [2] - The multidisciplinary team (MDT) platform in comprehensive hospitals offers integrated care, leveraging advanced adult treatment techniques for pediatric patients and ensuring smooth transitions for patients as they age [3] Group 2 - Tongji Hospital has established a Rare Disease Diagnosis and Research Center, focusing on standardized diagnosis and treatment for 199 rare diseases listed in China's rare disease catalog [3] - The hospital's MDT outpatient service allows patients to receive multidisciplinary evaluations and treatment plans with a single registration, enhancing the efficiency of care [3] Group 3 - Collaboration among research institutions, medical facilities, enterprises, and social organizations is essential for improving rare disease treatment [4] - Strengthening international cooperation and establishing long-term partnerships for joint research and mutual recognition of clinical pathways is crucial [4] - There is a need for a comprehensive support system involving hospitals, communities, families, schools, and employers to enhance social acceptance and improve the quality of life for patients [4]