RaDaR发布了一个32B开源推理模型，罕见病诊断比DeepSeek-R1还强，医生用它准确率提升21%。
RaDaR是一个32B参数的开源推理大模型，专为罕见病诊断设计。它在公开基准和四个外部验证中心中优于包括671B DeepSeek-R1在内的开源模型。在回顾性队列中，RaDaR在61.06%的病例中比临床怀疑更早给出最终诊断，提前时间1.87个月。在随机医生辅助试验中，RaDaR帮助医生诊断准确率提高21.44个百分点。合成数据消融实验表明表型锚定叙事对长尾罕见病提供有用训练信号。
A specialized reasoning large language model for accelerating rare disease diagnosis: a randomized AI physician assistance trial
Rare diseases affect millions of individuals worldwide, yet timely diagnosis remains a major public health challenge due to scarcity of specialized clinical expertise. While large language models (LLMs) show promise to support rare disease diagnosis, current models are constrained by insufficient clinical deployability, limited clinically grounded evidence, and scarcity of training data. Here we present RaDaR (Rare Disease navigatoR), an open-source, compact reasoning LLM (32B parameters) for rare disease diagnosis. RaDaR was trained with 49,170 publicly available free-text cases and 104,666 synthetic cases with reasoning-enhanced training. RaDaR showed the strongest performance among evaluated open-source models, including the 671B DeepSeek-R1, across public benchmarks and four external validation centers. In a retrospective cohort, RaDaR prioritized the final diagnosis before documented clinical suspicion in 61.06 percent of cases, corresponding to a potential lead time of 1.87 months and 50.18 percent of the within-center interval. In a randomized physician-assistance trial, RaDaR assistance improved physicians' rare-disease diagnostic accuracy by 21.44 percentage points compared with internet search alone. Synthetic-data ablations suggested that phenotype-anchored narratives provide useful training signal for long-tail rare diseases, with a monotonic scaling trend within the tested data range. Together, RaDaR and its development and validation framework provide a deployable rare-disease reasoning model and a reproducible development framework for diagnostic AI under data scarcity.