About ORDR
Home About ORDR


The ORDR Web site aims to answer questions about rare diseases and the activities of the ORDR for patients, their families, healthcare providers, researchers, educators, students, and anyone with concern for and interest in rare diseases. The site provides information about ORDR-sponsored biomedical research, scientific conferences, and rare and genetic diseases. It also serves as a portal to information on major topics of interest to the rare diseases community.

The ORDR Web site links to:

  • Information on many of the rare diseases.
  • Information about the services of the Genetic and Rare Diseases Information Center (GARD) and other rare diseases information sources.
  • Planned, ongoing, or completed clinical studies and trials.
  • Research funding opportunities from NIH and other sources.
  • Patient recruitment and referral procedures for the NIH Clinical Center hospital.
  • Rare diseases publications and reports.
  • Sources for genetic testing and counseling.
  • A program to develop new genetic tests and to make them available to the public.
  • Information on transportation and lodging for patients and their families during diagnosis and treatment at NIH and at other research sites across the Nation.
  • Information about ORDR-NIH supported scientific conferences.
  • Opportunities for transfer of technology for the prevention, diagnosis, or treatment of rare diseases or conditions.
Frequently Asked Questions

What Is a rare disease?

A rare disease (also called an orphan disease) is a disease or condition affecting fewer than 200,000 persons in the United States. An estimated 25 to 30 million people in the United States have a rare disease.

What Is ORDR?

The Office of Rare Diseases Research (ORDR) was established in 1993 within the Office of the Director of the National Institutes of Health (NIH), the Federal focal point for biomedical research. ORDR coordinates and supports rare diseases research, responds to research opportunities for rare diseases, and provides information on rare diseases. Public Law 107-280, the Rare Diseases Act of 2002, established the ORDR by statute.

What does ORDR do?
  • The goals of ORDR are to stimulate and coordinate research on rare diseases and to support research to respond to the needs of patients who have any one of the more than 6,800 rare diseases known today.
  • To leverage its resources, stimulate rare diseases research activities, and foster collaboration, ORDR:
    • Advises the Director, NIH, on an agenda for conducting rare diseases research and reports to Congress and the public about NIH-supported scientific rare diseases research advances and future plans.
    • Supports with NIH Institutes and Centers the Rare Diseases Clinical Research Network (RDCRN).
    • Coordinates and encourages cooperation and collaboration in rare diseases research.
    • Identifies and responds to scientific opportunities and builds international research collaborations.
    • Supports an intramural research program in cooperation with the National Human Genome Research Institute (NHGRI).
    • Supports a program to develop new genetic tests that are made available to the public.
    • Supports an extensive scientific conferences program in collaboration with the NIH Institutes and Centers.
    • Supports the development and implementation of a publicly accessible database of human biospecimen repositories.
    • Cosponsors, with the NHGRI, the Genetic and Rare Diseases Information Center.
    • Provides opportunities for patient support groups to become partners with the NIH, to better understand NIH research programs, and to gain better access to NIH research opportunities.
Genetic and Rare Diseases Information Center

P.O. Box 8126
Gaithersburg, MD 20988-8126
Toll-free: (888) 205-2311
TTY: (888) 205-3223
International Telephone Access Number: (301) 519-3194
E-mail form: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Web Site: http://rarediseases.info.nih.gov/GARD/

Office of Rare Diseases Research

6100 Executive Boulevard
Room 3B01, MSC 7518
Bethesda, MD 20892-7518
Telephone: (301) 402-4336
Fax: (301) 480-9655
E-mail: ordr@od.nih.gov

Health Hotlines

Health Hotlines is a database of toll-free numbers from the National Library of Medicine (NLM) with descriptions of over 14,000 biomedical information resources, including organizations, databases, research resources, etc.

ORDR Staff

Stephen C. Groft, Pharm.D.
Director
(301) 402-4336
ordr@od.nih.gov

Mary Demory
Senior Program Consultant
(301) 402-4336
ordr@od.nih.gov

David J. Eckstein, Ph.D.
Senior Health Scientist Administrator
(301) 402-4336
ordr@od.nih.gov

Marita Eddy
Angel Flight NIH Coordinator
(301) 451-9646
ordr@od.nih.gov

John H. Ferguson, M.D.
Medical Advisor
(301) 402-4336
jferguson@healthinfoconsultants.com

William Gahl, M.D., Ph.D.
Clinical Director, NHGRI
Director, ORDR-NHGRI Intramural Research Program
(301) 402-8255
bgahl@helix.nih.gov

Rashmi Gopal-Srivastava, Ph.D.
Director, Extramural Research Program
(301) 402-4336
ordr@od.nih.gov

Chris Griffin
Program Analyst
(301) 402-4336
ordr@od.nih.gov

Henrietta D. Hyatt-Knorr, M.A.
Director, Policy and Program Planning and Analysis
(301) 402-4336
ordr@od.nih.gov

Susan Lowe
Program Assistant
(301) 402-4336
ordr@od.nih.gov

Geraldine B. Pollen, M.A.
Senior Policy Analyst
(301) 402-4336
ordr@od.nih.gov

Yaffa Rubinstein, Ph.D.
Program Director
(301) 402-4336
ordr@od.nih.gov

Giovanna M. Spinella, M.D.
Science and Program Consultant
(301) 402-4336
ordr@od.nih.gov


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