Rare disease is a long-standing focus for PCORI. Recently, PCORI acknowledged rare disease as one of twelve Topic Themes of focus for future investment. The absence of approved treatments for many rare diseases makes comparative clinical effectiveness research of head-to-head treatment options a challenge. This session highlighted PCORI-funded rare disease comparative clinical effectiveness research studies (with one example leveraging PCORnet®, The National Patient-Centered Clinical Research Network) and engagement awards, and concluded with an equity-focused roundtable discussion of future directions for rare disease research and engagement.

Presentation Slides


Breakout Speaker

Jane Burns, M.D.

  • Professor, Department of Pediatrics, University of California San Diego
Session Moderator

Danielle Dong, ScM, CGC

  • Scientific Advocacy Lead, Global Medical Affairs Rare Disease, Sanofi PCORI Rare Disease Advisory Panel Member
Breakout Speaker

Anitha John, M.D., Ph.D.

  • Medical Director, Washington Adult Congenital Heart, Children's National Professor of Pediatrics, George Washington University School of Medicine
Breakout Speaker

Sophie Lanzkron, M.D., MHS

  • Professor of Medicine, Johns Hopkins School of Medicine
Breakout Speaker

Ruth Phillippi, M.S.

  • Program Lead, Washington Adult Congenital Heart Program at the Children's National Hospital


Health Conditions Health Conditions These are the broad terms we use to categorize our funded research studies; specific diseases or conditions are included within the appropriate larger category. Note: not all of our funded projects focus on a single disease or condition; some touch on multiple diseases or conditions, research methods, or broader health system interventions. Such projects won’t be listed by a primary disease/condition and so won’t appear if you use this filter tool to find them. View Glossary
Populations Populations PCORI is interested in research that seeks to better understand how different clinical and health system options work for different people. These populations are frequently studied in our portfolio or identified as being of interest by our stakeholders. View Glossary