Request for Information (RFI): Updating the National Institutes of Health Research Plan on Fragile X Syndrome and Associated Disorders

Notice Number: NOT-HD-12-012

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

Key Dates
Release Date: February 7, 2012             
Response Date:  March 2, 2012  (Extended to March 26, 2012 per NOT-HD-12-015)

Issued by
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
National Cancer Institute (NCI)
National Institute on Aging (NIA)
National Institute on Deafness and Other Communication Disorders (NIDCD)
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
National Institute of General Medical Sciences (NIGMS)
National Institute of Mental Health (NIMH)
National Institute of Neurological Disorders and Stroke (NINDS)
Fogarty International Center (FIC)
National Center for Advancing Translational Sciences (NCATS)
Office of Rare Diseases (ORD)


In 2008 the U.S. Department of Health and Human Services (DHHS) and the Senate Committee on Appropriations requested that the National Institutes of Health (NIH) develop a Research Plan on Fragile X syndrome and Associated Disorders.  To accomplish this task the NIH convened working groups charged with developing comprehensive recommendations for specific, high-priority research objectives for Fragile X syndrome (FXS) and the associated disorders of Fragile X-associated Tremor/Ataxia syndrome (FXTAS) and Fragile X associated Primary Ovarian Insufficiency (FXPOI). The working groups were composed of scientific experts from the research and clinical communities, along with representatives for affected individuals and family members, other pertinent federal agencies and invested NIH Institutes and Centers (ICs). The goals were designed to be used by the NIH and FXS, FXTAS, and FXPOI research communities and to be shared with other federal agencies to facilitate coordinated research activities that will lead to timely detection, diagnosis, treatment, and prevention of the targeted disorders. The entire plan can be found at:

In order to maintain the momentum of discovery and further develop research relevant to FX associated disorders, the NIH, with input from scientific experts, representatives for affected individuals and family members, and other federal agencies, is updating the current research plan. 

The NIH Fragile X Research Coordinating Group invites all interested stakeholders to comment on the current National Institutes of Health Research Plan on Fragile X syndrome and Associated Disorders.

Please review the list of the plan’s goals and objectives relevant to your interests and/or experience at:

Information Requested

The NIH is interested in creative, concrete suggestions in response to the following questions, for updating the long term research plan:


Priorities:  Each of the objectives was considered important in 2008, but we recognize that the field is constantly advancing.  Therefore, it is important to periodically reassess and prioritize the needs and opportunities for Fragile X research.  

New Areas

How to Submit a Response

Responses will be accepted through March 2, 2012.   Responses should be limited to one to two page(s) and marked with this RFI identifier: NOT-HD-12-012. All responses must be e-mailed to   

This Request for Information (RFI) is for planning purposes only and is not a solicitation for applications or an obligation on the part of the United States (U.S.) Government, or the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) to provide support for any ideas identified in response to it.  Please note that the U.S. Government will not pay for the preparation of any information submitted or for its use of that information.

All individual responses will remain confidential. Any identifiers (e.g., names, institutions, e-mail addresses, etc.) will be removed when responses are compiled. Only the processed, anonymized results will be shared internally with NIH staff members and any member of scientific working groups convened by the NICHD, as appropriate.

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:

Tiina K. Urv, Ph.D.
Program Director
Intellectual and Developmental Disabilities Branch (IDDB)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
6100 Executive Boulevard, Room 4B09D, MSC 7510
Bethesda, MD 20892-7510
Rockville, Maryland 20852 (for express/courier service)
Phone 301-402-7015

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