Rare Disease Research in the AI Era: Connecting Data, Knowledge, and Discovery

Overview
The Rare Disease Informatics Scientific Interest Group (RDI-SIG) workshop will bring together researchers, informaticians, clinicians, data scientists, and domain experts to discuss emerging opportunities and challenges in rare disease informatics.
Through scientific talks and panel discussions, the workshop will highlight how biomedical data resources, artificial intelligence, and cross-program collaboration can accelerate rare disease research and translational discovery.

Key topics will include:
• Biomedical applications of AI in rare disease research
• The role of large language models and foundation models in rare disease informatics
• Data integration, interoperability, and knowledge representation for rare diseases
• Collaboration across NIH Institutes, Centers, consortia, and programs
• Opportunities to advance translational research, data sharing, and reproducible discovery

Primary Goal
The primary goal of this workshop is to foster interdisciplinary collaboration across NIH Institutes and Centers and the broader rare disease research community. By connecting expertise in biomedical informatics, clinical research, AI, and data science, the workshop aims to identify shared priorities, promote responsible data use, and accelerate discovery for rare diseases.

Join Microsoft Teams Meeting here

This page was last updated on Friday, August 7, 2026