Journal Mobile Options
Table of Contents
Vol. 16, No. 6, 2013
Issue release date: February 2014
Public Health Genomics 2013;16:259-267

New and Evolving Rare Diseases Research Programs at the National Institutes of Health

Groft S.C. · Rubinstein Y.R.
Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Md., USA

Individual Users: Register with Karger Login Information

Please create your User ID & Password

Contact Information

I have read the Karger Terms and Conditions and agree.

To view the fulltext, please log in

To view the pdf, please log in


Research emphasis on rare diseases and orphan products remains a major focus of the research Institutes and Centers of National Institutes of Health (NIH). NIH provides more than USD 31 billion annually in biomedical research and research support. This research is the basis of many of the health advances in rare and common diseases. Numerous efforts and a major emphasis by the public and private sector initiatives have resulted in an increase of interventions and diagnostics for rare diseases. Newer translational research programs provide a more systematic and coordinated approach to rare diseases research and orphan products development. The approach that is offered requires extensive public-private partnerships with the pharmaceutical industry, contract research organizations, philanthropic foundations, medical and scientific advisory boards, patient advocacy groups, the academic research community, research and regulatory scientists, government funding agencies, and the public. Each program is unique and requires lengthy planning and collaborative efforts to reach programmatic goals. © 2013 S. Karger AG, Basel

Copyright / Drug Dosage

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.


  1. Orphan Drug Act, Public Law 97-414, January 4, 1983.
  2. Health Promotion and Disease Prevention Amendments of 1984, Public Law 98-551, October 30, 1984.
  3. Collins FS: Reengineering translational science: the time is right. Sci Transl Med 2011;3:90cm17.
  4. National Institutes of Health: Research portfolio online reporting tools (RePORT): NIH RePORTER.
  5. National Institutes of Health: Estimates of funding for various research, condition, and disease categories (RCDC). Categorical spending.
  6. National Institutes of Health: Research, condition, and disease categories (RCDC): project listing by category - rare diseases. N&DCat=Rare Diseases.
  7. National Institutes of Health: Research, condition, and disease categories (RCDC): project listing by category - orphan drugs.
  8. The NIH Common Fund Program.
  9. NIH Intramural Research Program: Our research changes lives.
  10. NIH Clinical Center: Bench-to-Bedside Research Program.
  11. Gahl WA, Tifft CJ: The NIH Undiagnosed Diseases Program: lessons learned. JAMA 2011;305:1904-1905.
  12. Gahl WA, Boerkoel CF, Boehm M: The NIH Undiagnosed Diseases Program: bonding scientists and clinicians. Dis Model Mech 2012;5:3-5.
  13. National Human Genome Research Institute: Undiagnosed Diseases Program.
  14. Griggs RC, Batshaw M, Dunkle M, Gopal-Srivastava R, Kaye E, Krischer J, Nguyen T, Paulus K, Merkel PA; Rare Diseases Clinical Research Network: RDCRN Clinical research for rare disease: opportunities, challenges, and solutions. Mol Genet Metab 2009;96:20-26.
  15. National Center for Advancing Translational Sciences: Rare diseases clinical research network.
  16. National Center for Advancing Translational Sciences: Genetic and rare diseases information center.
  17. Forrest CB, Bartek RJ, Rubinstein Y, Groft SC: The case for a global rare-diseases registry. Lancet 2011;377:1057-1059.
  18. Grady C, Rubinstein YR, Groft SC: Informed Consent and patient registry for the rare disease community. Contemp Clin Trials 2012;33:3-4.
  19. Rubinstein YR, Groft SC: Driving interest in consolidating resources for the creation of a global rare disease patient registry. Contemp Clin Trials 2010;31:393.
  20. Johnson SB, Whitney G, McAuliffe M, Wang H, McCreedy E, Rozenblit L, Evans, CC: Using global unique identifiers to link autism collections. J Am Med Inform Assoc 2010;17:689-695.
  21. US National Library of Medicine: NIH common data element resource portal.
  22. Rubinstein YR, Groft SC, Bartek R, Brown K, Christensen RA, Collier E, Farber A, Farmer J, Ferguson JH, Forrest CB, Lockhart NC, McCurdy KR, Moore H, Pollen GB, Richesson R, Miller VR, Hull S, Vaught J: Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB). Contemp Clin Trials 2010;31:394-404.
  23. Rubinstein YR, Groft SC, Chandros SH, Kaneshiro J, Karp B, Lockhart NC, Marshall PA, Moxley RT 3rd, Pollen GB, Miller VR, Schwartz J: Informed consent process for patient participation in rare disease registries linked to biorepositories. Contemp Clin Trials 2012;33:5-11.
  24. McKew JC, Pilon AM: NIH TRND program: successes in preclinical therapeutic development. Trends Pharmacol Sci 2013;34:87-89.
  25. National Center for Advancing Translational Sciences: FAQ about Bridging Interventional Development Gaps (BrIDGs) program.
  26. National Institutes of Health: NIH funds development of tissue chips to help predict drug safety.
  27. National Center for Advancing Translational Sciences: 2012 tissue chip project award.
  28. Colvis CM, Devaney S, Brady LS, Hudson KL: Partnering for therapeutics discovery. Clin Pharmacol Ther 2013;93:24-25.
  29. National Center for Advancing Translational Sciences: Library of industry-provided agents. Discovering new therapeutic uses for existing compound program.

Pay-per-View Options
Direct payment This item at the regular price: USD 38.00
Payment from account With a Karger Pay-per-View account (down payment USD 150) you profit from a special rate for this and other single items.
This item at the discounted price: USD 26.50