Past Event

Improving Rare Disease Diagnostics & Care

Of the 1 in 10 Americans living with a rare disease, only a small number of them receive a timely diagnosis. For many rare disease patients, the long journey to diagnosis remains one of the biggest challenges – jeopardizing health, time, and essential access to care and treatment. 

What barriers stand in the way of rare disease patients receiving an accurate diagnosis and getting the support they need? What will it take to improve diagnostics for the rare disease community, and what funding and coordinated efforts can make a difference? How do we need to reshape the policy framework for rare disease in order to move the dial on enhanced diagnosis and treatment? 

Join The Hill for a discussion on improving the diagnostic journey for the 30 million Americans living with rare disease.

Friday, May 13, 2022
12:30PM ET/9:30AM PT


  • Rep. Diana DeGette (D-CO), Member, Energy & Commerce Committee; Member, Congressional Research and Development Caucus; Sponsor, Cures 2.0 Act
  • Rep. Rodney Davis (R-IL), Member, Rare Disease Congressional Caucus
  • Juliet K. Choi, President & CEO, Asian & Pacific Islander American Health Forum
  • Molly Murray, President & CEO, Autoimmune Association
  • Dr. Anne Pariser, Vice President, Medical and Regulatory Affairs, Alltrna; Former Director, Office of Rare Diseases Research, National Center for Advancing Translational Sciences
  • Joni Rutter, Ph.D, Acting Director, National Center for Advancing Translational Sciences, National Institutes of Health
  • Dr. Marshall Summar, Director, Rare Disease Institute, Children’s National Hospital
  • Staci White, Patient Advocate
  • Dr. Bradford Wilson, Co-Founder & Chief Scientific Officer, IndyGeneUS AI

Sponsor Perspective:

  • Tom Defay, Head of Diagnostics Strategy and Operations, Alexion Pharmaceuticals
  • Del Lebel, Head of US Government Affairs and Policy, Alexion Pharmaceuticals


  • Steve Scully, Contributing Editor, The Hill

Join the conversation! Tweet us: @TheHillEvents and #TheHillRareDiseases



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