Help the Office of Rare Diseases at the NIH

Dear Friends,

I am writing to you about the Office of Rare Diseases at the National Institutes of Health (NIH) and requesting your consideration about how to leverage resources to expand their current levels of support for individuals and families with rare diseases.

The Office of Rare Diseases (ORD) at the NIH is, of course, one of the most ardent supporters of the rare disease community which includes most genetic conditions. Many of us are already acquainted with their quality work and have witnessed their commitment to children, adults and families with rare diseases first hand. My purpose here is to bring all of us up to date on the mission, work and future plans of the ORD and to suggest some ways that we can combine our energies to increase support for rare disease research, information and support services.

OFFICE OF RARE DISEASE SERVICES AND FUTURE PLANS

Currently, the Office of Rare Diseases (ORD) assists the estimated 25 million people in the US with the 6,000 or so rare diseases (most of which are genetic) as follows:

  • Provides information on rare and genetic diseases to patients and their families, as well as researchers and healthcare providers and the general public
  • Co-sponsors approximately 50 scientific workshops a year on specific rare and genetic disorders
  • Encourages the exchange of ideas among investigators, voluntary patient support groups, and NIH Institutes to stimulate new research on rare and genetic diseases
  • Stimulates research on rare and genetic diseases where none or very little exists
  • Takes advantage of scientific opportunities
  • Coordinates and provides liaison for the NIH with federal and non-federal national and international organizations concerned with research and treatment of rare and genetic diseases
  • Is developing with the NHGRI (National Human Genome Research Institute) an information center for rare and genetic diseases to respond to inquiries and produce new information materials for patients and their families as well as healthcare providers

OFFICE OF RARE DISEASES - BUDGET LIMITATIONS

In the current fiscal year, the Office of Rare Diseases has a budget of $2.2 million. At these levels, the ORD provides the above services at a cost of only 10 cents per person with a rare and genetic disease. ? a truly big bang for the buck! However, despite the rapid advance of research in rare and genetic diseases, additional investment is imperative for the translation of research results into diagnostic centers and clinical trials research to put these new scientific tools to work in improving healthcare options for those living with rare and genetic diseases.

SPECIAL EMPHASIS PANEL CALLED FOR INCREASED APPROPRIATIONS AND EXPANDED ORD FUNCTIONS AND SERVICES

A special emphasis panel on the coordination of rare diseases issued a report in 1999, calling for increased appropriations to the Office of Rare Diseases to support the establishment of:

  • One intramural research and diagnostic center for the study of rare and genetic diseases that includes a research training component
  • Four regional research and diagnostic centers for the study of rare and genetic diseases with research training components
  • Grants for clinical pilot studies on rare and genetic diseases
  • Collaborations with industry in the development of gene vectors for future gene therapies
  • An expanded scientific workshops program to support 100 scientific workshops and symposia per year with special emphasis on rare and genetic diseases where currently little or no research exists
  • The continued maintenance of a central clearinghouse for information on rare and genetic diseases written in understandable language for laymen for use by patients and their families.

WHAT WOULD THIS COST?

At least $25 million, which is only about 1 dollar per person with a rare and genetic disease, is needed for fiscal year 2002.

WHAT CAN WE DO?

Congressional budget discussions are already underway. NOW is time for everyone to register an opinion about where we want our federal dollars to go.

Please consider what the Office of Rare Diseases has done to promote research and support services for rare diseases in past years and what they would be able to do with expanded appropriations. Ask yourself what you might be able to achieve with respect to your particular rare disease, if ORD resources were increased.

Public testimony is accepted throughout the congressional session, until the budget is complete and letters on your organization letterhead to include in the Committee Record may be sent as well. However, to influence congressional debate on this issue, it is best to register your opinion as soon as you can. If you have any questions about this, please call Mary Ann Wilson, Consumer Staff Representative, Genetic Alliance at 202-966-5557, ext. 206 (Tuesdays and Fridays).

Your thoughts and opinion on the question of ORD levels of appropriations can be directed to:

The Honorable Ralph Regula
Chairman
House Appropriations Committee
Labor, Health and Human Services Education Subcommittee
2309 Rayburn House Office Building
Washington, D.C. 20515

The Honorable Arlen Specter
Chairman
Senate Appropriations Committee
Labor, Health, and Human Services, Education Subcommittee
711 Hart Senate Office Building
Washington, D.C. 20510

The Honorable Thad Cochran
Chairman
Senate Appropriations Agriculture,
Rural Development and Related Agencies Subcommittee
326 Russell Senate Office Building
Washington, D.C. 20510

The Honorable Henry Bonilla
Chairman
House Appropriations Agriculture, Rural Development,
FDA and Related Agencies Subcommittee
1427 Longworth House Office Building
Washington, D.C. 20515

Remember - Meaningful progress in policy, research and healthcare requires the active involvement of consumers!!! (Genetic Alliance Guiding Principle).

And that means each of us taking action and voicing our opinion!

Mary Mary Davidson, MSW Executive Director Genetic Alliance 4301 Connecticut Ave NW Suite 404 Washington DC 20008