（来源：上观新闻） 从4年到4周，未来诊断会更快更准 今天（2月28日）是第19个国际罕见病日，就在刚过去的中国春节假期里，两条和罕见病有关的话题引 爆全网。 一条是登上国际顶刊《自然》的上海医学成果：上海交通大学医学院附属新华医院携手上海交通大学人 工智能学院发布全球首个可溯源罕见病AI诊断系统——DeepRare。该应用已服务全球600多家顶尖医疗 科研机构，诊断精度刷新世界纪录。 另一条是美剧《实习医生格蕾》男演员埃里克·迪恩因渐冻症离世，年仅53岁，去年4月他透露了自己罹 患这一罕见病，不到一年，噩耗就传来。同为渐冻症患者的京东前副总裁蔡磊发声："遗憾未能联系上 他，本可以分享经验教训以及最新的药物研发希望。" 如果说罕见病如同医学的"死角"，那么眼下，这一则好消息、一则坏消息，均指向着全球罕见病领域的 点点"新光"：对全球超过3亿罕见病患者而言，原本的就医常态——"诊断难、用药难"的艰难旅程，正 因人工智能（AI）的深度介入迎来拐点。有业内人士甚至预言，2026年或是罕见病新药爆发元年。 根据《中国罕见病定义研究报告》，在我国，新生儿发病率小于万分之一，或患病率小于万分之一，或 患病人数小于14万的 ...

Core Viewpoint - The breakthrough in gene therapy and the improvement of early screening and prevention systems are providing hope for families affected by rare diseases, which impact a significant global population despite their low individual incidence [1][2]. Group 1: Rare Disease Overview - There are over 10,000 identified rare diseases globally, with approximately 80% being genetically related, affecting around 250 to 300 million people worldwide [2][3]. - Rare diseases can affect any organ or system in the body, with high mortality and disability rates, particularly in children, where over 50% of cases manifest during childhood [2][3]. - Diagnosis of rare diseases is challenging, with many conditions only identifiable through symptom-based diagnosis, leading to a "diagnostic dilemma" for patients [2]. Group 2: Genetic Basis and Inheritance - Rare diseases are primarily caused by genetic mutations, which can be inherited from parents or arise as new mutations during an individual's life [6][9]. - The inheritance patterns include recessive inheritance, X-linked inheritance, and de novo mutations, with specific implications for the likelihood of disease manifestation in offspring [6][9]. Group 3: Screening and Prevention - Early screening is crucial for preventing genetic rare diseases, focusing on three key stages: preconception, prenatal, and neonatal [9][10]. - Preconception screening can identify carrier status for genetic mutations, while prenatal diagnostics can detect inherited conditions early in pregnancy [9][10]. - Neonatal screening is essential for early intervention, with advancements in genetic testing technologies allowing for rapid diagnosis [10]. Group 4: Gene Therapy Developments - Gene therapy offers treatment options for rare diseases, primarily through gene replacement, gene editing, and RNA modification techniques [12][13]. - AAV vector technology has shown significant progress in clinical applications, particularly for spinal muscular atrophy (SMA), where treatment can lead to substantial developmental improvements [12]. - Despite advancements, gene therapy currently addresses less than 10% of rare diseases, with challenges such as delivery mechanisms and the need for early intervention remaining critical [12][13]. Group 5: Policy and Support - The Chinese government is enhancing support for rare disease research and treatment through policy initiatives, improved diagnostic technologies, and healthcare networks [3][13]. - Clinical trial information and funding opportunities for rare disease treatments are becoming more accessible, helping to alleviate the financial burden on affected families [13].

Core Insights - Neuroendocrine tumors (NETs) are rare diseases with a low incidence rate of less than 1 in 10,000 per year, classified as rare diseases in China [2][5] - The disease is often misdiagnosed due to its insidious onset and varied symptoms, leading to a significant increase in detection rates as awareness improves [2][3] - Patients with a family history of neuroendocrine tumors should undergo early screening and regular follow-ups due to potential genetic mutations [5] Group 1: Disease Characteristics - NETs can occur in various organs, including the nervous system, heart, brain, kidneys, skin, gastrointestinal tract, and pancreas, with a higher incidence in the pancreas [2][3] - The tumors are generally low-grade malignancies that grow slowly, making them difficult to detect until they are large or have metastasized [2][3] - For pancreatic NETs, 60%-70% of patients present with liver metastasis at the time of diagnosis, significantly reducing the five-year survival rate to 40%-50% [2] Group 2: Symptoms and Diagnosis - Symptoms of functional NETs include excessive hormone secretion leading to conditions like hypoglycemia, which can cause fainting and other neurological symptoms [3] - Non-functional NETs are harder to detect, as they may not produce clear hormonal symptoms, leading to misdiagnosis [3] - Common symptoms to watch for include recurrent hypoglycemia, unexplained fainting, skin rashes, and persistent digestive issues [3] Group 3: Screening and Treatment - Individuals with a family history of NETs should have targeted screenings, including genetic testing and regular check-ups for related organs [5][6] - Treatment requires a multidisciplinary approach, utilizing various imaging techniques for accurate assessment and a combination of therapies such as chemotherapy, targeted therapy, and surgical interventions [6] - The establishment of rare disease MDT clinics, which involve collaboration among multiple specialties, is crucial for comprehensive patient care [6]

Core Viewpoint - Rare diseases are a global public health issue and should be prioritized in health investment strategies to address the challenges they pose [1][2]. Group 1: Importance of Rare Diseases - The rare disease population is among the most vulnerable and requires prioritization to avoid falling behind in healthcare [2]. - There is a global consensus that rare diseases are not only medical challenges but also involve social, economic, and human rights issues [2]. Group 2: Current Status in China - China has defined 207 rare diseases in its catalog, but this is limited compared to over 10,000 rare diseases globally, indicating a significant lag [2]. - Legislative measures are urgently needed to systematically advance the prevention and treatment of rare diseases in China [2]. Group 3: Innovation and Development - Comprehensive support for the development of the rare disease industry is essential, including promoting innovative technologies and enhancing international competitiveness [3]. - China has shown significant strength in innovative drug development for rare diseases, moving from a follower to a key player in the field [4][6]. Group 4: Future Prospects - The treatment of rare diseases is shifting from symptomatic treatment to addressing root causes, with gene therapy and editing technologies providing new possibilities [5]. - China is expected to continue narrowing the gap with Western countries and may achieve breakthroughs in more areas of rare disease treatment [6]. Group 5: Collaborative Efforts - The China Rare Disease Summit serves as a major academic event, facilitating discussions among experts from various fields to promote the development of rare disease initiatives in China [6].

Core Insights - The 2025 China Rare Disease Conference was held in Beijing from September 20 to 21, highlighting the growing focus on rare diseases in the country [1] - Currently, there are 419 hospitals in the national rare disease diagnosis and treatment collaboration network, with the list of rare diseases expanded to 207 types [1] - Approximately 100 rare disease medications have been included in the national medical insurance drug list, indicating increased accessibility for patients [1] - In 2024, the medical insurance fund will allocate 8.6 billion yuan for rare disease medications, accounting for 7.7% of the total payment for drugs during the agreement period [1]

Focus Area - The talk focuses on the rare disease field, highlighting the significant impact on affected families [1] - The speaker, Dr Zhi Xu, specializes in reproductive genetics consultation and prevention of rare diseases and birth defects [1] Speaker's Expertise - Dr Zhi Xu is a researcher (Senior Professional Title) at the Reproductive Medicine Center of Peking University Third Hospital [1] - Dr Zhi Xu holds multiple social positions, including Deputy Director of the Fetal Heart Disease Prevention and Treatment Committee of the Chinese Maternal and Child Health Association [1] Social Impact - The talk aims to shed light on the often-overlooked rare disease community [1] - The talk emphasizes the importance of hope in the face of rare diseases [1]

Group 1 - The first public art exhibition on tenosynovial giant cell tumor (TGCT) was held in Beijing, showcasing over a hundred artworks created by patients, families, healthcare workers, and artists to raise awareness about this rare disease [1][2] - TGCT, also known as pigmented villonodular synovitis (PVNS), is a benign but locally aggressive tumor that primarily affects individuals aged 20 to 50, with a low incidence rate of 1 in 20,000 [1] - The disease can lead to significant limitations in daily activities, work, and social life due to symptoms such as joint swelling, pain, stiffness, and restricted movement [1] Group 2 - There is a significant gap in societal awareness regarding TGCT, and efforts are being made to use art to illustrate the struggles and pain of patients, emphasizing that this rare tumor is closer to the public than they might think [2] - The treatment and management of rare diseases like TGCT require collaboration among government, medical institutions, enterprises, charitable organizations, and society as a whole [2] - The event aims to expand social participation in the awareness and understanding of rare diseases through innovative contributions from the medical field and community engagement [2]

Core Viewpoint - The article highlights the challenges faced by myasthenia gravis patients in China, emphasizing the need for improved diagnosis, treatment accessibility, and social support systems for this rare disease [1][2][10]. Group 1: Disease Overview - Myasthenia gravis is an autoimmune neuromuscular disorder that affects nerve-muscle transmission, with approximately 650,000 patients in China [1][5]. - The annual incidence rate of myasthenia gravis in China is about 0.68 per 100,000, meaning one person is diagnosed every 14.7 years among 100,000 people [5]. - Misdiagnosis is a significant issue, with a reported misdiagnosis rate of 58.3% among surveyed patients [3][5]. Group 2: Patient Challenges - Patients face numerous challenges, including high treatment costs, lack of insurance coverage for essential medications, and social discrimination [10][11]. - Approximately 40.9% of surveyed patients reported having no income, and 46.3% earn less than 5,000 yuan per month, making it difficult to afford long-term treatment [10]. - 70% of patients are unable to work full-time due to their condition, and 29.8% experienced a relapse in the past six months [6][10]. Group 3: Treatment and Management - Advances in treatment have led to a shift from immunosuppressive therapies to "immune resetting," with potential for clinical remission [7]. - New drug developments, such as CAR-T cell therapy, show promise in improving treatment outcomes [7]. - The article emphasizes the importance of timely and appropriate treatment to achieve clinical improvement [7]. Group 4: Social Support and Advocacy - The establishment of patient organizations, such as the Beijing Aili Myasthenia Gravis Rare Disease Care Center, plays a crucial role in providing support and advocacy for patients [15]. - The article calls for a redefinition of myasthenia gravis to enhance public understanding and reduce stigma [15]. - Continued efforts are needed to improve social support systems and reduce the economic burden on patients and their families [14].

Core Viewpoint - The story highlights the resilience and optimism of a student named Lele, who, despite suffering from a rare disease, remains determined to support her classmates during their high school entrance examination and continues to pursue her own dreams through art [5][9]. Group 1: Lele's Condition and Education Journey - Lele was diagnosed with mucopolysaccharidosis, a rare disease affecting her physical development, but she has maintained good academic performance [6][7]. - Her family was initially apprehensive about her schooling, but the school welcomed her and provided necessary accommodations, such as an elevator and a private restroom [7][8]. - Lele's teachers and classmates have shown significant support, with her teacher creating a tailored study plan for her [8]. Group 2: Lele's Aspirations and Support from Peers - Despite her health challenges, Lele expressed a strong desire to take the entrance exam and even prepared a letter of encouragement for her classmates [9]. - Her classmates have learned to appreciate their current circumstances through Lele's determination, with a reserved seat in the classroom for her [8]. - Lele has taken up self-learning in digital art, indicating her ongoing pursuit of personal dreams [9].

Group 1 - The article highlights the unique perspective of a blind comedian named Black Lamp, who uses humor to address his condition and engage with audiences in a way that challenges societal norms around disability [1][3][6] - Black Lamp's performances often include self-deprecating humor and dark jokes, which serve as a form of desensitization to the stigma surrounding disabilities [3][4][6] - His comedy has sparked awareness about accessibility issues in urban environments, prompting audiences to notice and report inadequate facilities for the visually impaired [6][63] Group 2 - Black Lamp was diagnosed with a rare condition called juvenile macular degeneration at the age of 13, which leads to significant vision loss and ultimately blindness, affecting 1 in every 12,000 people globally [7][8] - He has faced challenges in the job market due to his visual impairment, often having to change jobs frequently and feeling disconnected from societal expectations [10][23][26] - The comedian's journey into stand-up was initially motivated by a desire to connect with others who share his condition and raise awareness about it [34][36] Group 3 - Black Lamp's performances have led to the creation of a support community for individuals with juvenile macular degeneration, where they can share information and experiences [35][38] - His comedic style has evolved over time, allowing him to engage audiences more effectively and address sensitive topics related to disability [51][54] - The article discusses the importance of humor in coping with life's challenges, particularly for those with disabilities, and how Black Lamp's work exemplifies this [72]