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Toddler's tragic death from brain-destroying amoeba offers lessons for doctors
罕见阿米巴感染摧毁幼儿大脑，医生为何错失救治时机？症状特征与诊断盲点解析，为医学诊疗提供重要警示。
Boy's unusual symptoms could help identify the next case sooner.
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MedUPS: Towards Diagnostic Assistance in Uncommon Medical Cases with Large Language Models
罕见病例诊断难，MedUPS用大模型评估临床决策全过程，不止看最终诊断，更贴近真实医疗挑战。
arXiv:2608.01012v1 Announce Type: cross Abstract: Uncommon and off-guideline cases are difficult for clinical decision support, because physicians mus…
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Doctors took a look at man's painful shoulder—they found the joint was missing
肩关节神秘消失？罕见的密尔沃基肩综合征，骨头被溶解的医学怪事，读完令人大开眼界。
The term "Milwaukee Should Syndrome" was coined in 1981, based on cases in four women.
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Anthropic 宣布进军药物研发：瞄准大型药企无利可言的罕见病领域
Anthropic推出Claude Science科研平台并自主研发罕见病药物，直击大药企“无利可图”的空白地带，AI制药再提速。
IT之家 7 月 4 日消息，Anthropic 本月初举行“The Briefing: AI for Science”活动，正式发布面向科研人员的新平台 Claude Science，并宣布公司将启动自主药物研发项目，重点针对传统药企评定为商业回报有限而长期缺乏研发投入的“被忽视疾病”（Negle…
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A specialized reasoning large language model for accelerating rare disease diagnosis: a randomized AI physician assistance trial
罕见病诊断难？专用推理大模型在随机医师试验中展现加速确诊潜力，AI医疗新突破。
arXiv:2606.24510v1 Announce Type: new Abstract: Rare diseases affect millions of individuals worldwide, yet timely diagnosis remains a major public he…
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AI helped diagnose 18 children whose rare diseases had stumped doctors
18个罕见病患儿确诊背后，AI在儿科诊断中展现了惊人潜力。
Article URL: https://www.nbcnews.com/tech/innovation/ai-boston-childrens-hospital-diagnose-rare-diseases-kids-openai-rcna350387 Comments URL: https://…
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世界首次：我国原创 RNA 编辑技术率先应用于 DMD 罕见病治疗
我国原创RNA编辑技术LEAPER率先用于DMD罕见病临床治疗，获积极疗效信号，实现国际突破。
IT之家 6 月 13 日消息，据新华社报道，北京大学魏文胜教授团队与昌平实验室于 2026 年 6 月 10 日在《细胞》上在线发表了两项重要研究成果。 该团队研发的 RNA 编辑技术 LEAPER 在治疗杜氏肌营养不良症（简称 DMD）这一严重遗传性罕见病中取得国际领先成果，这是我国原创 RNA…
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Boston Children’s uses AI to unlock new diagnoses
AI助力波士顿儿童医院破解40余种罕见病诊断难题，展现医疗大模型落地价值。
Boston Children’s Hospital uses OpenAI technology to improve patient care, reduce operational burden, and help diagnose more than 40 rare disease case…