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Centers for Collaborative Research in Fragile X (U01): RFA-HD-13-004
  1. Amanda Beaini

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Components of Participating Organizations

Eunice Kennedy Shriver National Institute of Child Health and Human Development

National Institute of Mental Health

National Institute of Neurological Disorders and Stroke

Application Receipt Date(s): January 30, 2013

The Fragile X Syndrome Research Centers were originally developed in response to the Children’s Health Act of 2000 (H. R. 4365) Section 452E which called for the funding of three Centers. Over the past ten years, the funded Centers have produced numerous findings that have propelled the field of Fragile X research forward at a rapid pace.

This FOA, through an open competition, solicits applications for Centers for Collaborative Research in Fragile X. Successful Centers will be composed of transdisciplinary teams of investigators working together to address specific scientific questions within targeted areas of research. The targeted scientific questions are intended to address research gaps, drive discovery and further develop research relevant to Fragile X syndrome and Fragile X Gene (FMR1) Related Conditions.

Collectively, Fragile X syndrome (FXS), Fragile X Associated Tremor/Ataxia syndrome (FXTAS), and Fragile X Associated Primary Ovarian Insufficiency (FXPOI), along with other FMR1 Related Conditions, represent a major health concern and have far-reaching implications for individuals, families, and their future generations.

While FXS, FXTAS and FXPOI have very different clinical symptoms, they all result from variations in a region of the FMR1 gene that contains multiple repeats of three nucleotides, cytosine-guanine-guanine (CGG). The specific repeated pattern and differences in the number of CGG repeats in the gene determine the most common forms of the gene: premutation and full mutation.

Individuals with fewer than ∼55 repeats are considered to have a normal FMR1 gene. Individuals with more than 200 repeats have a full mutation and FXS. Full mutations are generally associated with intellectual and development disabilities (IDD) apparent in early childhood. Repeats in the range …

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