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Report on Research on Rare Diseases in Children: FY 2000 to FY 2005

Office of Rare Diseases (ORD), Office of Disease Prevention, Office of the Director, NIH

Overview of ORD Rare Diseases in Children Research Activities, FY 2000–FY 2005

ORD was developed to stimulate and coordinate research in rare diseases, which are defined as affecting fewer than 200,000 patients in the United States. ORD uses several approaches to leverage its resources to improve the understanding of the approximately 6,000 conditions that are considered "rare," many of which affect children.

Databases on Clinical Trials

ORD developed and maintained the Rare Diseases Clinical Research Database (RDCRD) and incorporated it into the ORD Web site. In FY 2001, ORD worked with the National Library of Medicine (NLM) to mesh RDCRD with the new database. This database describes research protocols and provides contact information for principal investigators, thereby facilitating public access to clinical trials and studies.

Scientific Workshops

ORD collaborates with the Institutes and Centers at NIH to stimulate research by sponsoring scientific workshops. The outcomes of these workshops include the establishment of research priorities, development of collaborative research protocols, and agreements and criteria for diagnosing and monitoring rare diseases. Workshops have consistently supported the exchange of ideas among investigators, voluntary patient support groups, and NIH and have resulted in stimulating new research. Workshops that had a specific focus on rare diseases in children have been listed in this report by the respective Institutes and Centers.

Information Center

ORD is currently providing information on rare diseases through its Web site or in response to telephone or written inquiries. Since the number of direct requests has been ever-increasing despite the information sources available through the ORD Web site, ORD and the National Human Genome Research Institute (NHGRI) are in the process of establishing an Information Center to respond to inquiries about rare and genetic disorders. The Information Center will be operational late in FY 2001 and will provide access to existing information and develop new materials to be included in an interactive Web site. Information for health care providers and the public will include: 1) information about the disease or condition; 2) locations of genetic counseling centers available for consultation; 3) summaries and locations of current and planned research related to rare diseases and genetic disorders; 4) names, locations, and types of printed or audiovisual materials provided by voluntary patient support groups; and 5) disease-specific fact sheets. In addition to the Web site, the Information Center will operate a toll-free telephone information service to respond to inquiries about rare diseases and genetic disorders for those without access to the Internet or e-mail.

Medical Genetics and Rare Diseases Database in the Combined Health Information Database

In 1998, ORD and NHGRI developed the Medical Genetics and Rare Diseases Database in the Combined Health Information Database (CHID). Information available from nearly 1,500 voluntary patient support groups is now readily accessible from the CHID Web site.

Initiatives in FY 2002 and Beyond

Rare Diseases Research Centers of Excellence

With additional funding, ORD is planning to respond to the critical needs of patients with rare, life-threatening conditions, including children, by implementing at least one intramural Center of Excellence for patients in whom a diagnosis has been elusive despite extensive efforts to determine the exact nature of the problem. This pilot Center of Excellence is to be followed by four or more regional research centers across the United States.

Scientific Workshop Program

In addition, ORD expects to expand its program of cosponsoring scientific workshops with the NIH ICs. Currently, ORD is funding approximately 50 workshops a year. These workshops on rare diseases research are funded either if a particular scientific opportunity exists or if very little if any research is currently under way. Preliminary findings from an evaluation of the workshops show that the workshops are an effective means of generating research ideas and grant applications in rare disease areas that otherwise might not attract much attention.


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Last Reviewed: May 15, 2003
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