名录中所涉及病种涵盖了国家卫生健康委发布的两批207种罕见病，医疗机构数量从2023版名单中的29 家增加至74家，提供罕见病服务的科室数量也进一步增加。 为方便患者就医，提升罕见病服务能力，北京市卫健委根据国家卫生健康委公布的两批罕见病目录，定 期对北京市具备相应罕见病诊疗能力的医疗机构进行梳理发布。 近期，根据医疗机构报送信息，市卫健委对相关罕见病诊疗信息进行更新，制定了《具备罕见病目录中 所列疾病诊疗能力的医疗机构名录（2025年）》。 新京报讯（记者戴轩）记者从北京市卫健委获悉，针对国家卫生健康委发布的两批207种罕见病，北京 有74家医疗机构具备相应诊疗能力。 记者在名单中看到，针对具体的疾病种类，有诊疗能力的医疗机构名称进行了公示。如，白化病 （Albinism）有12家医疗机构具有诊断能力，包括北京地坛医院、首都儿童医学中心、北大医院、北京 协和医院等；针对先天性脊柱侧弯（Congenital Scoliosis），北医三院、北大人民医院、积水潭医院、 北京朝阳医院等具备诊疗能力。后续该信息将持续更新。 有需求的患者，可在下方网站中下载医疗机构名录，在文档内检索疾病名，从有诊疗能力的医疗机构中 ...

Core Insights - Approximately 100 rare disease medications have been included in the medical insurance catalog, covering 42 types of rare diseases [1] - In 2024, the medical insurance fund will pay 8.6 billion yuan for rare disease medications, accounting for 7.7% of the total payment for medications during the agreement period [1] - The establishment of a multi-layered guarantee system for rare diseases is underway, combining basic medical insurance, major illness insurance, and medical assistance [1][2] Group 1 - The National Healthcare Security Administration is actively promoting the inclusion of medications in the insurance catalog and the construction of a "dual-channel" supply mechanism to improve drug accessibility [1][2] - The number of hospitals in the national rare disease diagnosis and treatment collaboration network has increased from 324 in 2019 to 419 currently [1][2] - The national rare disease direct reporting system has registered a total of 1.64 million cases, with 1.5 million confirmed cases [2] Group 2 - Future selection criteria for rare disease medications should consider severity, intervention methods, and social impact, rather than just incidence rates [3] - The entry of rare disease medications into the catalog must prioritize clinical and patient benefits, focusing on drugs with clear biomarkers and measurable efficacy [3] - There is a need to challenge the perception that rare disease drugs must be high-priced, as some production technologies are mature and costs are controllable [3] Group 3 - Emphasis on refined management of rare disease medications is crucial due to their high cost and long-term prescription nature [3] - Collaboration among over 400 institutions in the national rare disease diagnosis and treatment collaboration network is essential for effective management practices [3][4] - The 2025 China Rare Disease Conference was co-hosted by multiple organizations, highlighting the collective effort in addressing rare diseases [4]

9月19日至21日，由蔻德罕见病中心与华中科技大学同济医学院附属同济医院共同主办的"2025第十四届中国罕见病高峰论坛"在武汉召开。论坛期间，华中 科技大学同济医学院儿科学系主任、同济儿童医院院长罗小平作主题演讲并参加交流。 罗小平指出，罕见病已知病例约7000种至10000种，约80%与遗传相关、75%在儿童期起病，仅约5%具备有效特异性治疗。全球罕见病患者超过3亿，我国患 者预计超过2000万。罕见病诊疗面临致病机制研究不足、早期筛查难、社会接纳度不高、长期管理与支付保障不完善等问题。 "我国地域广阔、诊断能力分布不均，儿童罕见病临床表现复杂且非特异，常出现3到5年就诊与确诊间隔，漏诊误诊仍需系统性改进。"罗小平表示，综合医 院的多学科（MDT）平台为罕见病诊疗提供了院内跨专科一体化、成人先进诊疗技术向儿童"嫁接"、儿童患者成年后顺利转介以及管理治理等天然优势。 每经记者｜甄素静 每经编辑｜魏官红 华中科技大学同济医学院儿科学系主任、同济儿童医院院长罗小平 图片来源：主办方供图 在儿童患者成年后顺利转介方面，综合医院院内可完成从儿童到成人的畅通转介，保持病历连续性、团队连续性与干预连续性，构建全生命周期的 ...

Core Insights - The 2025 China Rare Disease Conference highlighted significant advancements in the diagnosis and treatment of rare diseases, showcasing a growing network of hospitals and an expanding list of covered diseases and medications [1][3][5] Group 1: Healthcare System Developments - The national medical insurance drug list now includes medications for 42 types of rare diseases, with 8.6 billion yuan allocated for rare disease drug payments in 2024, accounting for 7.7% of total drug payments during the agreement period [3][5] - A multi-layered insurance system is being developed, combining basic medical insurance, critical illness insurance, and medical assistance, while exploring commercial health insurance and social charity as additional support [3][5] Group 2: Research and Innovation - The conference emphasized the importance of research in transforming previously untreatable conditions into manageable diseases, with notable examples of successful drug development now included in the insurance system [5][6] - The establishment of the China Rare Disease Comprehensive Cloud Service Platform aims to enhance diagnostic applications and create a comprehensive map for rare disease treatment and support [5][6] Group 3: Global Contributions and Collaboration - China is positioning itself as a key player in global rare disease governance, having established a reporting system covering 1.15 billion people and registering 1.64 million cases [8] - The government is actively promoting policies to expedite the review and approval of rare disease medications and medical devices, while also setting up specialized funding and laboratories for rare diseases [8][9] Group 4: Challenges and Future Directions - Despite progress, challenges remain, including limited awareness of rare diseases in grassroots areas, high costs of innovative drug development, and the need for faster policy implementation to facilitate market access [9][10] - The commitment to prioritizing patient needs and enhancing the visibility of rare diseases is essential for improving the quality of life for affected individuals [9][10]

Core Viewpoint - The National Health Commission has organized the development of diagnostic and treatment guidelines for 86 diseases, including achondroplasia, as part of the second batch of rare disease catalog [1] Group 1: Disease Overview - Achondroplasia (ACH) is a hereditary condition that results in disproportionate short stature [1] - Typical clinical manifestations include proximal shortening of long bones, macrocephaly, trident hands, and distinctive facial features such as frontal prominence, midface hypoplasia, and flattened nasal bridge [1] - Clinical diagnosis primarily relies on the presentation of the disease and imaging characteristics [1]

Core Viewpoint - The National Health Commission of China has released the "Guidelines for the Diagnosis and Treatment of 86 Rare Diseases (2025 Edition)" to enhance the standardization of rare disease treatment and ensure medical quality and safety [1][2]. Group 1: Rare Disease Guidelines - The guidelines provide clear instructions on clinical manifestations, diagnostic methods, and medical interventions for the 86 rare diseases included in the second batch of the rare disease directory [1][2]. - The guidelines reflect the era's demand for comprehensive health care throughout an individual's life cycle, emphasizing the importance of early screening and treatment for rare diseases [1]. Group 2: Specific Rare Diseases - Achondroplasia (ACH) is highlighted as a genetic disorder leading to disproportionate short stature, with typical clinical features including shortened proximal long bones, macrocephaly, and distinctive facial characteristics [2]. - Currently, there is only one approved treatment for ACH abroad, while no specific drug has been approved in China, and treatment mainly focuses on symptom management and complications [2]. Group 3: Government Initiatives and Statistics - The Chinese government has shown increasing attention to rare diseases, with the first batch of rare disease directory published in 2018, which included 121 diseases and corresponding treatment guidelines [2]. - Approximately 20 million people in China are affected by rare diseases, with over 200,000 new patients each year [2]. - As of January 1, 2025, the new national medical insurance drug list will include 13 new medications for rare diseases, significantly reducing the financial burden on patients [2].

Core Viewpoint - Recently, Tongji University announced multiple government procurement intentions, with a total budget of 127 million yuan for 16 items of instrument and equipment procurement [2]. Group 1: Project Overview - The project titled "Central Special Lottery Public Welfare Fund Support for Rare Disease Diagnosis and Treatment Capability Improvement Project (Phase VI)" has a budget of 480 million yuan [4][6]. - The procurement includes various genetic testing services, with specific budget allocations for different testing types [6]. Group 2: Procurement Details - The procurement documents can be obtained from April 30, 2025, to May 12, 2025, with a document price of 400 yuan [9][10]. - The deadline for submitting bids is May 23, 2025, at 09:00 AM (Beijing time) [10]. Group 3: Eligibility Requirements - Bidders must possess a valid medical institution practice license and cover the diagnostic subjects of "medical testing" and "clinical cell molecular genetics" [8]. - Suppliers listed as untrustworthy on the "Credit China" website are prohibited from participating in this project [13].