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.

Batch Model Consolidation: A Multi-Task Model Consolidation Framework

In Continual Learning (CL), a model is required to learn a stream of tasks sequentially without significant performance degradation on previously learned tasks. Current approaches fail for a long sequence of tasks from diverse domains and difficulties. Many of the existing CL approaches are difficult to apply in practice due to excessive memory cost or training time, or are tightly coupled to a single device. With the intuition derived from the widely applied mini-batch training, we propose Batch Model Consolidation ($\textbf{BMC}$) to support more realistic CL under conditions where multiple agents are exposed to a range of tasks. During a $\textit{regularization}$ phase, BMC trains multiple $\textit{expert models}$ in parallel on a set of disjoint tasks. Each expert maintains weight similarity to a $\textit{base model}$ through a $\textit{stability loss}$, and constructs a $\textit{buffer}$ from a fraction of the task's data. During the $\textit{consolidation}$ phase, we combine the learned knowledge on 'batches' of $\textit{expert models}$ using a $\textit{batched consolidation loss}$ in $\textit{memory}$ data that aggregates all buffers. We thoroughly evaluate each component of our method in an ablation study and demonstrate the effectiveness on standardized benchmark datasets Split-CIFAR-100, Tiny-ImageNet, and the Stream dataset composed of 71 image classification tasks from diverse domains and difficulties. Our method outperforms the next best CL approach by 70% and is the only approach that can maintain performance at the end of 71 tasks; Our benchmark can be accessed at https://github.com/fostiropoulos/stream_benchmark