Notice of Interest in Advancing Research on FMR1-Associated Conditions
Notice Number:
NOT-HD-20-009

Key Dates

Release Date:

June 5, 2020

Related Announcements

RFA-HD-20-003 - Centers for Collaborative Research in Fragile X andFMR1-Associated Conditions (P50 Clinical Trial Optional)

NOT-HD-17-033 - Request for Information (RFI): Future Directions in Research on Fragile X Syndrome and FMR1-Related Conditions

Issued by

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

National Institute of Mental Health (NIMH)

National Institute of Neurological Disorders and Stroke (NINDS)

National Center for Advancing Translational Sciences (NCATS)

Purpose

FMR1-associated conditions are a collection of disparate conditions that all stem from cytosine-guanine-guanine (CGG) nucleotide repeat expansions in the 5’ untranslated region of the FMR1 gene, located on the human X chromosome. These conditions include:

  • Fragile X Syndrome (FXS), the most common inherited cause of intellectual and developmental disability (IDD)
  • Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), which leads to disabling neurological symptoms in middle-age and elderly adults
  • Fragile X-associated Primary Ovarian Insufficiency (FXPOI), which can lead to infertility and/or early menopause in women

FMR1 mutations are categorized by the number of CGG repeats.

  • Full mutation: more than ~200 repeats. Individuals with FXS carry the full mutation.
  • Premutation: ~55-200 repeats. Individuals with FXTAS and FXPOI carry the premutation.
  • Gray zone: ~44-55 repeats
  • Typical: ~23-45 repeats
  • Low Zone: fewer than ~23 repeats

In addition to the three specific FMR1-associated conditions listed above, recent research advances suggest that FMR1 mutations of various sizes may also be linked to a range of additional symptoms and conditions.

NIH support for research on FMR1-associated conditions ranges from basic genetic, molecular, in vitro cellular, and cell and animal models to human clinical research. NIH efforts also span multiple institutes and offices, reflecting the wide-ranging importance to NIH of generating knowledge to improve the health of individuals with FMR1-associated conditions.

In recognition of the rapidly evolving landscape of FMR1-associated research, NIH recently published a Strategic Plan for Research on FMR1-Associated Conditions. This Strategic Plan, which was developed in collaboration with the Fragile X community, articulates NIH’s current research priorities, which are directed toward an overarching vision of accelerating the development of effective interventions to prevent or treat FMR1-associated conditions.

The purpose of this Notice is to encourage new applications for support of basic, translational and/or clinical research on the causes, diagnosis, prevention or treatment of FMR1-associated conditions from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the National Institute of Mental Health (NIMH), the National Institute of Neurological Disorders and Stroke (NINDS) and the National Center for Advancing Translational Sciences (NCATS).

Applications should be submitted through existing Funding Opportunity Announcements (FOAs) supported by NICHD, NIMH, NINDS or NCATS. These applications should respond both to one or more goal areas identified in the FMR1 Strategic Plan and to the priorities of the Institute(s) or Center(s) to which the application is being submitted.

A variety of Parent and institute-specific FOAs are available for applicants, including Research (R), Cooperative Agreement (U), Career Development (K), and Fellowship (F) awards in which NICHD, NIMH, NINDS or NCATS participate. Individual institutes may have specific requirements for certain mechanisms or study types, particularly clinical trials; institutes also have different interests and funding priorities for FMR1 research. Therefore, applicants are strongly encouraged to discuss any specific applications with the program contacts listed below for guidance in selecting an appropriate NIH institute/center and FOA.

Inquiries

Please direct all inquiries to:

Tracy King, M.D., M.P.H.
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Telephone: 301-402-1822
Email: tracy.king@nih.gov

Bettina Buhring, Ph.D.
National Institute of Mental Health (NIMH)
Phone: 301-443-1576
Email: bettina.buhring@nih.gov

Lisa Gilotty, Ph.D.
National Institute of Mental Health (NIMH)
Phone: 301-443-3825
Email: gilottyl@mail.nih.gov

Laura Mamounas, Ph.D.
National Institute of Neurological Disorders and Stroke (NINDS)
Phone: 301-496-5745
Email: mamounal@ninds.nih.gov

Robert Riddle, Ph.D.
National Institute of Neurological Disorders and Stroke (NINDS)
Phone: 301-496-5745
Email: riddler@ninds.nih.gov

Tiina Urv, Ph.D.
National Center for Advancing Translational Sciences (NCATS)
Telephone: 301-827-2746
Email: urvtiin@mail.nih.gov


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