A specialized reasoning large language model for accelerating rare disease diagnosis: a randomized AI physician assistance trial
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
RaDaR is an open-source compact 32B reasoning LLM for rare disease diagnosis, trained on 49,170 real free-text cases plus 104,666 synthetic reasoning-enhanced cases, evaluated in a randomized AI physician assistance trial and outperforming larger open models including 671B DeepSeek. It matters for addressing scarce specialized expertise in timely rare disease diagnosis through a deployable model with clinical validation.