Public Law No. 106-310, The Children's Health Act, requires in Section 2801
that the Director of the National Institutes of Health (NIH)
submit to the Congress a report on the activities that, during
fiscal year (FY) 2000, were conducted and supported by NIH
Institutes with respect to rare diseases in children, including
Friedreich's ataxia and Hutchinson-Gilford progeria syndrome;
and the activities that are planned to be conducted and supported
by such Institutes with respect to such diseases during FY
2001 through FY 2005.
The rare diseases research programs sponsored by NIH Institutes and Centers (ICs) are well-established
and well-recognized and include a high percentage of research on children. These basic, clinical, and research training programs continue to contribute to the development and dissemination of information on
the prevention, etiology, diagnosis, and treatment of rare diseases in children as well as adults.
This report presents the contributions and research advances of the NIH research programs and the Office
of Rare Diseases (ORD). Many advances presented in this report are the result of years of basic research sponsored by NIH. Children with rare diseases continue to benefit from the treatment applications realized
from the diverse nature of and emphasis placed on both basic and translational research by NIH.
This report defines a rare disease as a disease, condition, or syndrome with a prevalence of fewer than
200,000 persons in the United States. Prevalence is the number of persons living with the rare disease.
As noted above, the Act specifically requests information on two rare diseases in children, Friedreich's
ataxia (FRDA) and Hutchinson-Gilford progeria syndrome . Information on these diseases can be found
in the following sections of this report:
Friedreich's Ataxia (FRDA)
National Institute on Aging (NIA, p. 2);
National Institute on Alcohol Abuse and Alcoholism (NIAAA, p. 3);
National Institute of Environmental Health Sciences (NIEHS, pp. 57, 59);
National Institute General Medical Sciences (NIGMS, p. 65).
National Institute of Neurological Disorders and Stroke (NINDS, pp. 96, 98).
Hutchinson-Gilford Progeria Syndrome
National Institute of Child Health and Human Development (NICHD, p. 30);
National Institute of Neurological Disorders and Stroke (NINDS, p. 98).