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Fragile X Syndrome Research Center (FXSRC) Program

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Overview

Young boy posingThe FXSRC Program supports research to improve the diagnosis and treatment of Fragile X syndrome (FXS) and its related conditions. The FXSRCs are geared toward stimulating multidisciplinary, multi-institutional research with the common goal of facilitating the translation of basic research findings from bench to bedside and bedside to community.

The Program is currently funded through the Intellectual and Developmental Disabilities Branch (IDDB). The Branch initially funded three FXSRCs in fiscal year 2003 in response to the Children’s Health Act of 2000, which provided for the establishment of at least three FXSRCs to conduct and support basic and biomedical research into the detection and treatment of FXS.

There are currently three FXSRCs that work in collaboration with several collaborating sites at colleges and universities across the country. Each FXSRC includes both basic and clinical research programs, and several projects focus on newborn screening for FXS and the implications of that screening.

The Centers are being recompeted in 2013 as the Centers for Collaborative Research in Fragile X (U01) (http://grants.nih.gov/grants/guide/rfa-files/RFA-HD-13-004.html) in collaboration with the National Institute of Neurological Disorders and Stroke (NINDS) and the National Institute of Mental Health (NIMH).

Topic Areas

FXS is caused by an unstable expansion of a three base-pair (CGG) repeat on the FMR1 gene, located on the long arm of the X chromosome. FXSRC research areas include genetics, proteomics, neurobiology, pathophysiology, epidemiology, and behavioral studies.

Current FXSRC studies include (but are not limited to):

  • Determination of the full phenotypic spectrum of genetic changes in the FMR1 gene and identification of pathological causes of various FXS symptoms, with the aim of discovering and testing effective treatments;
  • Functional and structural roles of the antisense transcript of the FMR1 gene, including possible molecular and clinical correlations with Fragile X-associated tremor/ataxia syndrome (FXTAS), an adult-onset disease associated with FMR1 mutation;
  • Restoration of partial function to the Fragile X protein (FMRP) in conditional mouse mutants, which vary by regional and temporal levels of Fmr1 expression;
  • Evaluation of early developmental processes that lead to the variable epigenetic inactivation of FMR1 in human embryonic stem cells;
  • Newborn screening, including methods of testing immediate and extended family members, and the impact of newborn screening on the family;
  • Development of and maternal responsivity to children with FXS;
  • Identification of unique challenges faced by families with children, adolescents, and adults with FXS, with the goal of determining how public health-oriented programs can be of assistance in addressing these challenges.

Current Sites

  • Baylor College of Medicine External Web Site Policy in collaboration with
    • Emory University
    • University of Illinois at Urbana-Champaign
  • University of North Carolina, Chapel Hill External Web Site Policy in collaboration with
    • University of Kansas
    • RTI International
    • University of California, Davis/Medical Investigation of Neurodevelopmental Disorders [MIND] Institute
    • University of Wisconsin, Madison
  • University of Washington External Web Site Policy in collaboration with
    • University of California, Davis/MIND Institute
    • Rush University Medical Center
    • University of Illinois at Urbana-Champaign
    • Fred Hutchinson Cancer Research Center

More Information

Last Updated Date: 01/02/2013
Last Reviewed Date: 12/04/2012
Vision National Institutes of Health Home BOND National Institues of Health Home Home Storz Lab: Section on Environmental Gene Regulation Home Machner Lab: Unit on Microbial Pathogenesis Home Division of Intramural Population Health Research Home Bonifacino Lab: Section on Intracellular Protein Trafficking Home Lilly Lab: Section on Gamete Development Home Lippincott-Schwartz Lab: Section on Organelle Biology