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Using AI to help physicians diagnose rare genetic diseases affecting children

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Researchers used an OpenAI reasoning model to help diagnose rare diseases, identifying 18 new diagnoses in previously unsolved cases.

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arXiv AI
Jun 24

A specialized reasoning large language model for accelerating rare disease diagnosis: a randomized AI physician assistance trial

arXiv:2606. 24510v1 Announce Type: new Abstract: Rare diseases affect millions of individuals worldwide, yet timely diagnosis remains a major public health challenge due to scarcity of specialized clinical expertise.

By Haichao Chen, Songchi Zhou, Zhengyun Zhao, Shikai Hu, Xianghong Jin, Hongwei Ji, Li He, Shuli Li, Yiming Qin, Xin Tan, Runfeng Shi, Yih Chung Tham, Jiaye Zhu, Ye Li, Ye Jin, Longhao Cao, Dawei Li, Honghan Wu, Hongqiu Gu, Guanqiao Li, Tudor Groza, Chunying Li, Dian Zeng, Weihong Yu, Gareth Baynam, Saumya Shekhar Jamuar, Min Shen, Shuyang Zhang, Bin Sheng, Sheng Yu, Tien Yin Wong
OpenAI Blog
Jan 8

OpenAI for Healthcare

OpenAI for Healthcare enables secure, enterprise-grade AI that supports HIPAA compliance—reducing administrative burden and supporting clinical workflows.