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 was previously 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.
These three FXSRCs successfully recompeted in 2008 and each worked with several collaborating sites at academic institutions across the country. Each FXSRC included both basic and clinical research programs, and several projects focused on newborn screening for FXS and the familial implications of that screening, improved diagnosis of FXS, and the development of assays to test the efficacy of interventions in murine models of the condition.
The Centers were recompeted in 2014 as the Centers for Collaborative Research in Fragile X ( U54) in collaboration with the National Institute of Neurological Disorders and Stroke (NINDS) and the National Institute of Mental Health (NIMH).
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.
Past FXSRC studies include and have included :