Request for Information (RFI): Invitation to Comment on the Down Syndrome Research Plan Released in 2007

Notice Number: NOT-HD-12-026

Update: The following update relating to this announcement has been issued:

  • October 15, 2012 - See Notice NOT-HD-12-033. Notice of Response Date Extension.
Key Dates

Release Date: August 24, 2012
Response Date: (Extended to November 19, 2012 per NOT-HD-12-033), Originally October 17, 2012

Issued by
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)


The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) recognize that the Down Syndrome Research Plan released in 2007 is now in need of evaluation and updating. As part of this process, NICHD and the Trans-NIH Down Syndrome Working Group welcomes comments from the public concerning the effectiveness of the Plan, its accomplishments, and its remaining gaps, and welcomes suggestions concerning new future research objectives.


The mission of the National Institutes of Health (NIH) is to seek fundamental knowledge about the nature and behavior of living systems and the application of that knowledge to enhance health, lengthen life, and reduce the burden of illness of disability.

Part of the mission of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), a component of NIH, is to ensure that all children have the chance to achieve their full potential for healthy and productive lives.

Research on lifelong disorders, such as Down syndrome, has been a fundamental part of the NICHD’s mission since the Institute was established almost 50 years ago. Down syndrome usually results from three copies of the entire of human chromosome 21 (Trisomy 21) and occurs in 1:691 live births each year in all races and economic groups in the United States.

To build on this research foundation and coordinate Down syndrome research, the NIH Director at that time, Dr. Elias Zerhouni, asked the NICHD to take the lead in gathering together program scientists from Institutes across the NIH to form a Trans-NIH Down Syndrome Working Group. The charge to this group was to coordinate ongoing research already supported by the NIH related to Down syndrome and to enhance new, NIH-supported research efforts based on identification of the areas of greatest scientific opportunity, especially as they related to the development of future treatments.

Throughout 2007, the Working Group met with members of the scientific community and representatives from national organizations that focus on Down syndrome to discuss research successes and gaps in knowledge. The Plan was developed by the Working Group, with input from the outside scientific and family communities, at the request of Congress in the Labor-HHS-Education Appropriations legislation for fiscal year 2007, focusing specifically on genetic and neurobiological research relating to the cognitive dysfunction and the progressive late-life dementia associated with Down syndrome. The purpose of the plan was to build upon ongoing NIH-supported research relating to Down syndrome to reflect the changing lives of individuals and families affected, and to take advantage of emerging scientific opportunities. By organizing the research objectives into groupings according to subject area and timeframes, the plan served to inform the Down syndrome community of NIH’s goals for moving ahead in this area, fostering collaborations between NIH and other agencies and groups. A draft of the plan was released for public input; comments were incorporated as appropriate into the final plan.

The Research Plan included short-, medium-, and long-term research objectives in five major areas: Pathophysiology of Down Syndrome and Disease Progression; Diagnosis, Screening, and Functional Measures; Treatment and Management; Living with Down Syndrome; and Research Infrastructure. For details of the research plan, see

The broader Down syndrome community acted quickly to advance these research objectives. The NICHD and the National Institute on Aging published a Funding Opportunity Announcement (RFA-HD-09-028 (Factors Affecting Cognitive Function in Adults with Down Syndrome (R01)) in 2009 and funded two longitudinal studies examining and identifying biomarkers predictive of risk for progression to dementia in adults with Down syndrome. In addition, three Program Announcements entitled Understanding Co-Morbid Conditions in Adolescents with Intellectual and Developmental Disabilities were released by the NICHD in 2011 for the R01, R21, and R03 mechanisms, respectively (PA-11-039, PA-11-040; PA-11-041).

Two meetings were held in 2010 that focused on the immediate need for certain research resources: Down Syndrome Registry Meeting, sponsored by the National Down Syndrome Society in September, 2010, and Down Syndrome: National Conference on Patient Registries, Research Databases, and Biobanks, sponsored jointly by the NICHD and the Global Down Syndrome Foundation in December, 2010. As a result of this latter meeting, two Requests for Information (RFIs) were released to solicit responses from the public at large, the scientific research community, and interested advocacy and self-advocacy communities: NOT-HD-11-002 (Needs For and Impediments to the Development of a Research Database to Facilitate Down Syndrome Research) and NOT-HD-11-001 (Acquisition, Processing, Storage, and Distribution of Human Brain and Other Tissues to Advance Understanding and Treatment of Down Syndrome).

In response to another recommendation that arose from these meetings, the NICHD and the Trans-NIH Down Syndrome Working Group formed the Down Syndrome Consortium, which held its first meeting in September 2011. This group represents a public-private partnership with representation from major Down syndrome researchers, advocacy and medical groups, federal partners, and others to facilitate an exchange of information on research on Down syndrome.

Investigator-initiated research proposed since the release of the Research Plan has focused on each of the areas identified in the Research Plan, and a number of investigators new to Down syndrome research are currently engaged in studies the Plan’s objectives. For the purpose of updating the Research Plan, the NICHD invites the research, medical, advocacy, self-advocate, and family communities to comment on their perceptions of the progress made in each of these areas over the last five years, and on existing gaps that remain, so that the Trans-NIH Down Syndrome Working Group can identify its research directions for the next five years. Comments addressing specific research objectives and indicating a time frame for new research objectives would also be helpful.

Information Requested

Any input regarding the Research Plan is welcome, especially comments on the following topics:

  • General discussion of how well the Research Plan has helped the field.
  • The objectives that have been particularly productive or have been successfully achieved.
  • Objectives that have a higher or lower priority to expedite research, including possible basic, clinical, or translational focus approaches for these objectives.
  • New or persistent gaps in the present Plan.
  • New opportunities for research focus not covered in the present Plan.

How to Submit a Response

Responses will be accepted until October, 17, 2012. All responses must be submitted via email to Please include the notice number, NOT-HD-12-026, in the subject line and include your complete contact information with your response. All submissions will be considered in revising the Research Plan. Submitted information will not be considered confidential.

NICHD will use the information submitted in response to this RFI at its discretion and will not provide comments to any responder’s submission. However, responses to the RFI submitted may be reflected in future solicitation(s). NICHD may contact any responder for the sole purpose of enhancing NICHD’s understanding of your RFI submission. The information provided will be analyzed and may appear in reports. Respondents are advised that the Government is under no obligation to acknowledge receipt of the information received or provide feedback to respondents with respect to any information submitted. No proprietary, classified, confidential, or sensitive information should be included in your response. The Government reserves the right to use any non-proprietary technical information in any resultant solicitation(s).


Please direct all inquiries to:

Mary Lou Oster-Granite, PhD
Health Scientist Administrator
Chair, Trans-NIH Down Syndrome Working Group
Intellectual and Developmental Disabilities Branch
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
6100 Executive Boulevard
Room 4B05L, MSC 7510
Bethesda, MD 20892-7510
Telephone: 301-435-6866
FAX: 301-496-3791