WEBINAR REPLAY

Advancing rare disease diagnostics: How ontological tools transform care and research

Runtime: 1 hour

Summary

Ontological tools – structured models of medical knowledge – are advancing the diagnosis and treatment of rare diseases. Rare conditions often challenge traditional documentation and research methods due to their complexity and low prevalence.

This session explores how structured, standardized ontologies can support clinicians in diagnosing rare disorders, streamline documentation at the point of care, and generate high-quality data that drives future research. Clinical experts will share real-world insights on integrating ontologies into their workflows to reduce ambiguity, improve accuracy, and enable more effective care and discovery.

Learning objectives:

  • Understand how ontologies support more accurate and structured diagnostic reasoning for rare diseases.
  • Learn how standardized, ontology-driven documentation can improve clarity and efficiency at the point of care.
  • See how high-quality, structured data can accelerate clinical research and therapeutic innovation.

Featured speaker(s)

Jonathan S. Berg, MD, PhD 
Bryson Distinguished Professor, Departments of Genetics and Medicine
University of North Carolina at Chapel Hill
Ada Hamosh, MD, MPH 
Dr. Frank V. Sutland Professor of Pediatric Genetics
Johns Hopkins Medicine
Patrick McCormick, MD
Staff Terminologist
IMO Health 
Moderated by  
Amol Bhalla MD, M.Sci, MHSA, MBA  
Chief Clinical Informaticist
IMO Health

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This program has been approved for continuing education unit(s) (CEUs) for use in fulfilling the continuing education requirements of the American Health Information Management Association (AHIMA). Granting of Approved CEUs from AHIMA does not constitute endorsement of the program content or its program provider.

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