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 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.
The Centers were 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).
Current grantees are:
- Kimberly M. Huber, Ph.D., University of Texas Southwestern Medical Center, Dallas
(Grant number 1U54 HD082008-01)
Many people with Fragile X syndrome are sensitive to sensory stimuli, especially noise. Dr. Huber’s team will study brain circuits in mouse models and people to try to determine the causes of heightened sensitivity to sound. This information may lead to more targeted therapies.
- Joel D. Richter, Ph.D., University of Massachusetts Medical School, Worcester
(Grant number 1U54 HD082013-01)
In collaboration with Gary J. Bassell, Ph.D. (Emory University, Atlanta) and Eric Klann, Ph.D. (New York University), Dr. Richter’s research group will study three molecules that appear to play important underlying roles in Fragile X syndrome. The team will examine these molecules as possible targets for future drug development.
- Stephen T. Warren, Ph.D., Emory University
(Grant number 1U54 NS091859-01)
Not all individuals who have FMR1gene mutations experience the same symptoms, and researchers are still trying to find out why. Dr. Warren’s team will sequence the genomes of patients withFMR1gene mutations to identify whether additional genes may affect an individual’s likelihood of developing certain health problems associated with FMR1 mutations. They will focus on epilepsy in boys with Fragile X syndrome and on Fragile X-associated tremor/ataxia syndrome (which tends to be seen in older men) and Fragile X-associated primary ovarian insufficiency (which is seen only in girls and women).