agentic rare disease diagnosis

agentic rare disease diagnosis

80% Faster Diagnoses with Rare Disease Data Center

In 2023, the Rare Disease Data Center aggregated 10,237 patient records with 99% data completeness, enabling real-time queries for diagnosis within minutes rather than weeks. This unified genome-phenotype repository connects registries, FDA data, and research labs to create a single source of truth. The result is faster, more reliable