tasks, to recommend a research agenda, promote coordination within NIH, promote use of NIH resources for rare diseases research, and support the creation of a central clearinghouse of information on rare diseases. In 2000, an NIH panel produced a congressionally mandated report that led to the permanent establishment of the Office of Rare Diseases Research (ORDR) and the creation of a rare diseases clinical research initiative. By 2009, ORDR had designated as parts of a Rare Diseases Clinical Research Network nearly 20 research consortia, each involving a number of research institutions studying several related rare conditions (NIH, 2009a). (Appendix E lists the consortia and conditions.)

In addition, sometimes in coordination with ORDR but also independently, several NIH institutes fund research on rare diseases, for example, a number of rare cancers, sickle cell diseases and related blood disorders, and rare neurological disorders, such as various forms of muscular dystrophy.

The grants program of the FDA’s Office of Orphan Products Development also supports clinical development of products for use in rare diseases or conditions. A number of grants have led to approved products.

Beyond DHHS, other federal agencies also have other research programs and activities that fund some research on rare conditions or orphan products. At the Department of Defense, the Congressionally Directed Medical Research Programs, which began with a directive for research on breast cancer, has also administered earmarked programs of research on other conditions, including several rare conditions—neurofibromatosis, ovarian cancer, tuberous sclerosis, and amyotrophic lateral sclerosis (CDMRP, 2008; see also Chapter 2).

Notwithstanding the visibility of the research programs of NIH, pharmaceutical, biotechnology, and medical device companies fund the major part of biomedical research in the United States (Table 1-2). Together, their spending accounted for nearly three-fifths (58 percent) of the total.