Overview
Topic Areas
Current Sites
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Overview
The 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 funded through the Intellectual and Developmental Disabilities (IDD) Branch. 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.
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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
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Current Sites
- Baylor College of Medicine in collaboration with
- Emory University
- University of Illinois at Urbana-Champaign
- University of North Carolina, Chapel Hill 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 in collaboration with
- University of California, Davis/MIND Institute
- Rush University Medical Center
- University of Illinois at Urbana-Champaign
- Fred Hutchinson Cancer Research Center
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Last Reviewed: January 19, 2012
