This report describes how scientific and technological advances on many fronts—combined with supportive public policies and private initiative—offer opportunities to intensify research on the causes and mechanisms of rare diseases and to reduce the number of rare diseases with no or inadequate means of prevention or treatment. It proposes an integrated strategy for the United States to accelerate research on rare diseases and increase the options for diagnosing, treating, and preventing these diseases. Box 1-2 outlines the elements of an integrated strategy.

Components of each of these elements of an integrated strategy already exist, some more robust than others. It is, however, difficult to achieve coherence because so many participants with differing perspectives and priorities are necessarily involved. Collaboration and continuing evaluation, which are always challenges, are particularly difficult given the number and diversity of rare diseases and the limited and even undocumented resources devoted to them individually and collectively. Thus, this report proposes further steps to develop a more integrated approach to rare diseases research and product development.

BOX 1-2

Elements of an Integrated National Strategy to Accelerate Research and Product Development for Rare Diseases

  • Active involvement and collaboration by a wide range of public and private interests, including government agencies, commercial companies, academic institutions and investigators, and advocacy groups

  • Timely application of advances in science and technology that can make rare diseases research and product development faster, easier, and less expensive

  • Creative strategies for sharing research resources and infrastructure to make good and efficient use of scarce funding, expertise, data, biological specimens, and participation in research by people with rare diseases

  • Appropriate use and further development of trial design and analytic methods tailored to the special challenges of conducting research on small populations

  • Reasonable rewards and incentives for private-sector innovation and prudent use of public resources for product development when the latter appears a faster or less costly way to respond to important unmet needs

  • Adequate organizations and resources, including staff with expertise on rare diseases research and product development, for the public agencies that fund biomedical research and regulate drugs and medical devices

  • Mechanisms for weighing priorities for rare diseases research and product development, establishing collaborative as well as organization-specific goals, and assessing progress toward these goals

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