Rare Diseases Epidemiology pp 515-525

Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 686)

Advocacy Groups and Their Role in Rare Diseases Research



One of the remarkable and unique aspects of the recent history of rare disease research has been the evolving role of patient advocacy groups and the collaborative partnership that exists among such groups and the scientists who study rare diseases, as well as the government officials charged with overseeing medical research and regulatory processes. This collaboration, which in many respects developed out of necessity on all sides, is unparalleled in other areas of medical research and product development. It has played a significant role over the past 30 years in the adoption of public policies, available research funding and other factors affecting the general climate for research on rare diseases. Specific areas of interest include the adoption of the Orphan Drug Act in the U.S. in 1983 and subsequent similar legislation elsewhere in the world; the relationship of patient advocacy groups with government research funding and regulatory entities; the role of patient advocacy groups in seeking to “de-risk” orphan product development through initiatives such as facilitating patient registries and disease natural histories; the role of advocacy groups in ensuring that patients have access to treatments; and the increasing globalization of patient advocacy initiatives.


Rare diseases Patient advocacy groups Orphan products Orphan drug act Social security 


  1. 1.
    Asbury CH (1985) Orphan drugs: medical vs. market value. Heath and Company, Lexington, MAGoogle Scholar
  2. 2.
    Haffner ME (2006) Adopting orphan drugs: two dozen years of treating rare diseases. NEJM 354:445–47PubMedCrossRefGoogle Scholar
  3. 3.
    Waxman H (2009) The Waxman report: how congress really works. Grand Central Publishing, New York, NYGoogle Scholar

Copyright information

© Springer Netherlands 2010

Authors and Affiliations

  • Mary Dunkle
    • 1
  • Wayne Pines
    • 2
  • Peter L. Saltonstall
    • 3
  1. 1.National Organization for Rare Disorders (NORD)DanburyUSA
  2. 2.Regulatory Services and Healthcare, APCO Worldwide Inc.WashingtonUSA
  3. 3.National Organization for Rare Disorders (NORD)DanburyUSA

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