From diagnostic odyssey to discovery: Shortening the rare disease journey with better data

Summary

Rare disease patients often endure years of uncertainty before receiving an accurate diagnosis. In this panel discussion, leaders in patient advocacy, ontology research, and clinical informatics explore why rare diseases so often get lost in clinical data — and what it will take to change that.

From the lived experience of the diagnostic odyssey to the role of standardized terminology and AI-ready data, the conversation will unpack how specificity at the point of care can accelerate discovery and improve patient outcomes.

Learn how embedding research-grade rare disease knowledge into everyday workflows creates a shared, computable understanding across care, research, and life sciences.

What you'll learn

Explain how gaps in clinical documentation delay rare disease diagnosis, and why standardized, granular terminology is essential for trustworthy AI and precision medicine.
Describe how harmonized ontologies like MONDO connect clinical care, research, and trial readiness.
Identify practical steps health systems can take to improve rare disease data capture and continuity.