Rare Diseases Act of 2002
PL 107-280 (H.R.4013), enacted 11/06/2002

116 STAT. 1988 
PUBLIC LAW 107-280—NOV. 6, 2002 
Public Law 107-280 
107th Congress 
An Act 
Nov. 6, 2002 
To amend the Public Health Service Act to establish an Office of Rare Diseases 
[H R 4013] 
^^ *^^ National Institutes of Health, and for other purposes. 
Be it enacted by the Senate and House of Representatives 
of 
Rare Diseases 
the United States of America in Congress assembled, 
Act of 2002. 
42 u s e 201 note. 
SECTION 1. SHORT TITLE. 
This Act may be cited as the "Rare Diseases Act of 2002". 
42USC283h 
SEC. 2. FINDINGS AND PURPOSES. 
(a) FINDINGS.—Congress makes the following findings: 
(1) Rare diseases and disorders are those which affect 
small patient populations, tjrpically 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 dys-
trophy. 
(2) 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 manu-
facturers 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. 
(3) During the 1970s, an organization called the National 
Organization for Rare Disorders (NORD) was founded to pro-
vide 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. 
(4) The Orphan Drug Act 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 pro-
mote the development of drugs and devices for rare diseases 
or disorders. 
(5) Before 1983, some 38 orphan drugs had been developed. 
Since the enactment of the Orphan Drug Act, more than 220 
new orphan drugs have been approved and marketed in the 
PUBLIC LAW 107-280—NOV. 6, 2002 
116 STAT. 1989 
United States and more than 800 additional drugs are in the 
research pipeUne. 
(6) 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. 
(7) 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. 
(8) Notwithstanding such increases, funding for rare dis-
eases and disorders at the National Institutes of Health has 
not increased appreciably. 
(9) To redress this oversight, the Department of Health 
and Human Services has proposed the establishment of a net-
work of regional centers of excellence for research on rare 
diseases. 
(b) PURPOSES.—The purposes of this Act are to— 
(1) amend the Public Health Service Act to establish an 
Office of Rare Diseases at the National Institutes of Health; 
and 
(2) increase the national investment in the development 
of diagnostics and treatments for patients with rare diseases 
and disorders. 
SEC. 3. NIH OFFICE OF RARE DISEASES AT NATIONAL INSTITUTES 
OF HEALTH. 
Title IV of the Public Health Service Act (42 U.S.C. 281 et 
seq.), as amended by Public Law 107-84, is amended by inserting 
after section 404E the following: 
"OFFICE 
OF 
RARE 
DISEASES 
"SEC. 404F. (a) ESTABLISHMENT.—There is established within 42USC283h. 
the Office of the Director of NIH 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 NIH. 
"(b) DUTIES.— 
"(1) IN GENERAL.—The Director of the Office shall carry 
out the following: 
"(A) The Director shall recommend an agenda for con-
ducting 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. 
"(B) 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. 
"(C) 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 404G. 
116 STAT. 1990 
PUBLIC LAW 107-280—NOV. 6, 2002 
' 
"(D) The Director shall promote the sufficient allocation 
of the resources of the National Institutes of Health for 
conducting and supporting research on rare diseases. 
"(E) The Director shall promote and encourage the 
establishment of a centralized clearinghouse for rare and 
genetic disease information that will provide understand-
able information about these diseases to the public, medical 
professionals, patients and families. 
Reports. 
"(F) The Director shall biennially prepare a report 
that describes the research and education activities on 
rare diseases being conducted or supported through the 
national research instituteife and centers, and that identifies 
particular projects or types of projects that should in the 
future be conducted or supported by the national research 
institutes and centers or other entities in the field of 
research on rare diseases. 
Reports. 
"(G) The Director shall prepare the NIH Director's 
annual report to Congress on rare disease research con-
ducted by or supported through the national research 
institutes and centers. 
"(2) 
PRINCIPAL ADVISOR REGARDING ORPHAN DISEASES.— 
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. 
"(c) DEFINITION.—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. 
"(d) AUTHORIZATION OF APPROPRIATIONS.—For the purpose of 
carrying out this section, there are authorized to be appropriated 
such sums as already have been appropriated for fiscal year 2002, 
and $4,000,000 for each of the fiscal years 2003 through 2006.". 
SEC. 4. RARE DISEASE REGIONAL CENTERS OF EXCELLENCE. 
Title IV of the Public Health Service Act (42 U.S.C. 281 et 
seq.), as amended by section 3, is further amended by inserting 
after section 404F the following: 
"RARE DISEASE REGIONAL CENTERS OF EXCELLENCE 
42 u s e 283i. 
" S E C . 404G. (a) COOPERATIVE AGREEMENTS AND GRANTS.— 
"(1) IN GENERAL.—The Director of the Office of Rare Dis-
eases (in this section referred to as the 'Director'), in collabora-
tion 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 to public or 
private nonprofit entities to pay all or part of the cost of 
planning, establishing, or strengthening, and providing basic 
operating support for regional centers of excellence for clinical 
research into, training in, and demonstration of diagnostic, 
prevention, control, and treatment methods for rare diseases. 
"(2) POLICIES.—^A cooperative agreement or grant under 
paragraph (1) shall be entered into in accordance with policies 
established by the Director of NIH. 
"(b) COORDINATION WITH OTHER INSTITUTES.—The Director 
shall coordinate the activities under this section with similar activi-
ties conducted by other national research institutes, centers and 
PUBLIC LAW 107-280—NOV. 6, 2002 
116 STAT. 1991 
agencies of the National Institutes of Health and by the Food 
and Drug Administration to the extent that such institutes, centers 
and agencies have responsibilities that are related to rare diseases. 
"(c) USES FOR FEDERAL PAYMENTS UNDER COOPERATIVE AGREE-
MENTS O
R GRANTS.—Federal payments made under a cooperative 
agreement or grant under subsection (a) may be used for— 
"(1) staffing, administrative, and other basic operating 
costs, including such patient care costs as are required for 
research; 
"(2) clinical training, including training for allied health 
professionals, continuing education for health professionals and 
allied health professions personnel, and information programs 
for the public with respect to rare diseases; and 
"(3) clinical research and demonstration programs. 
"(d) PERIOD OF SUPPORT; ADDITIONAL PERIODS.—Support of a 
center under subsection (a) may be for a period of not to exceed 
5 years. Such period may be extended by the Director for additional 
periods of not more than 5 years if the operations of such center 
have been reviewed by an appropriate technical and scientific peer 
review group established by the Director and if such group has 
recommended to the Director that such period should be extended. 
"(e) AUTHORIZATION OF APPROPRL\TIONS.—For the purpose of 
carrying out this section, there are authorized to be appropriated 
such sums as already have been appropriated for fiscal year 2002, 
and $20,000,000 for each of the fiscal years 2003 through 2006.". 
Approved November 6, 2002. 
L E G I S L A T I V E H I S T O R Y — H . R . 4013 (S. 1379): 
HOUSE REPORTS: No. 107-543 (Comm. on Energy and Commerce). 
SENATE REPORTS: No. 107-129 accompanyng S. 1379 (Comm. on Health, Edu-
cation, Labor, and Pensions). 
CONGRESSIONAL RECORD, Vol. 148 (2002): 
Oct. 1, considered and passed House. 
Oct. 17, considered and passed Senate.