peutic agents. Ongoing attention to the balance between basic and applied research for rare diseases will be critical to the acceleration of diagnostic and therapeutic product development.

Beyond those cited above, other factors contributing to the variation in federal funding of rare diseases research may include the number of scientific issues raised by a particular rare disease, the potential broader relevance of those issues, the availability of pilot grants from disease-specific foundations, the extent to which clinical care and clinical research are focused in disorder-specific clinics or centers, and workforce issues such as numbers of trained basic and clinical investigators.

Federal agencies beyond NIH also fund some biomedical research on rare diseases, particularly clinical studies. Chapter 3 describes the small orphan products grant program at FDA. Also within the Department of Health and Human Services, agencies such as the Centers for Disease Control and Prevention, the Bureau of Maternal and Child Health, and the Agency for Healthcare Research and Quality (AHRQ) support some research on rare conditions, particularly clinical, population-based, and health services research. For example, AHRQ has supported a review of the effectiveness of specific screening options to prevent neonatal encephalopathy owing to hyperbilirubinemia (Trikalinos et al., 2009). Chapter 1 cited the Congressionally Directed Research Program at the U.S. Department of Defense, which has been mandated to conduct research on several rare conditions.

Advocacy Groups and Foundations

An increasing number of disease-specific foundations and advocacy groups provide funding for research. The aim of many of these foundations is to attract investigators with skills and research track records in other areas to devote their attention to a particular rare disease. Several also support research training and career development in an attempt to engage future investigators in research efforts that advance their medical scientific agendas. This has worked well for foundations such as CFF, which over the years has committed $50 million to $100 million a year in the support of research. Other groups such as the Fanconi Anemia Research Fund have more recently entered the research funding arena and have been successful in attracting substantial but smaller numbers of investigators. (Appendix F presents several illustrative examples of elements of research support strategies pursued by advocacy organizations.)

Traditionally, disease-specific foundations have recognized that support across the entire continuum—basic research through clinical development—is necessary. In some cases, advocacy groups have been responsible for funding the fundamental scientific breakthroughs that were necessary



The National Academies | 500 Fifth St. N.W. | Washington, D.C. 20001
Copyright © National Academy of Sciences. All rights reserved.
Terms of Use and Privacy Statement