42 U.S.C. § 287a: Office of Rare Diseases

There is established within the Center an office to be known as the Office of Rare Diseases (in this section referred to as the “Office”), which shall be headed by a Director (in this section referred to as the “Director”), appointed by the Director of the Center. The Director shall recommend an agenda for conducting and supporting research on rare diseases through the national research institutes and centers. The agenda shall provide for a broad range of research and education activities, including scientific workshops and symposia to identify research opportunities for rare diseases. The Director shall, with respect to rare diseases, promote coordination and cooperation among the national research institutes and centers and entities whose research is supported by such institutes. The Director, in collaboration with the directors of the other relevant institutes and centers of the National Institutes of Health, may enter into cooperative agreements with and make grants for regional centers of excellence on rare diseases in accordance with section 287a–2 of this title . The Director shall promote the sufficient allocation of the resources of the National Institutes of Health for conducting and supporting research on rare diseases. The Director shall promote and encourage the establishment of a centralized clearinghouse for rare and genetic disease information that will provide understandable information about these diseases to the public, medical professionals, patients and families. With respect to rare diseases, the Director shall serve as the principal advisor to the Director of NIH and shall provide advice to other relevant agencies. The Director shall provide liaison with national and international patient, health and scientific organizations concerned with rare diseases. For purposes of this section, the term “rare disease” means any disease or condition that affects less than 200,000 persons in the United States. Rare diseases and disorders are those which affect small patient populations, typically populations smaller than 200,000 individuals in the United States. Such diseases and conditions include Huntington’s disease, amyotrophic lateral sclerosis (Lou Gehrig’s disease), Tourette syndrome, Crohn’s disease, cystic fibrosis, cystinosis, and Duchenne muscular dystrophy. For many years, the 25,000,000 Americans suffering from the over 6,000 rare diseases and disorders were denied access to effective medicines because prescription drug manufacturers could rarely make a profit from marketing drugs for such small groups of patients. The prescription drug industry did not adequately fund research into such treatments. Despite the urgent health need for these medicines, they came to be known as ‘orphan drugs’ because no companies would commercialize them. During the 1970s, an organization called the National Organization for Rare Disorders (NORD) was founded to provide services and to lobby on behalf of patients with rare diseases and disorders. NORD was instrumental in pressing Congress for legislation to encourage the development of orphan drugs. The Orphan Drug Act [ Pub. L. 97–414 , see Short Title of 1983 Amendments note set out under section 301 of Title 21 , Food and Drugs] created financial incentives for the research and production of such orphan drugs. New Federal programs at the National Institutes of Health and the Food and Drug Administration encouraged clinical research and commercial product development for products that target rare diseases. An Orphan Products Board was established to promote the development of drugs and devices for rare diseases or disorders. Before 1983, some 38 orphan drugs had been developed. Since the enactment of the Orphan Drug Act [ Jan. 4, 1983 ], more than 220 new orphan drugs have been approved and marketed in the United States and more than 800 additional drugs are in the research pipeline. Despite the tremendous success of the Orphan Drug Act, rare diseases and disorders deserve greater emphasis in the national biomedical research enterprise. The Office of Rare Diseases at the National Institutes of Health was created in 1993, but lacks a statutory authorization. The National Institutes of Health has received a substantial increase in research funding from Congress for the purpose of expanding the national investment of the United States in behavioral and biomedical research. Notwithstanding such increases, funding for rare diseases and disorders at the National Institutes of Health has not increased appreciably. To redress this oversight, the Department of Health and Human Services has proposed the establishment of a network of regional centers of excellence for research on rare diseases. amend the Public Health Service Act [ 42 U.S.C. 201 et seq.] to establish an Office of Rare Diseases at the National Institutes of Health; and increase the national investment in the development of diagnostics and treatments for patients with rare diseases and disorders.”