The Centers for Collaborative Research in Fragile X and FMR1-related Conditions Program supports research to improve the diagnosis and treatment of Fragile X syndrome (FXS) and its related conditions. These centers 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 administered through NICHD’s Intellectual and Developmental Disabilities Branch (IDDB). The branch initially funded three centers in fiscal year 2003 in response to the Children’s Health Act of 2000.
These three centers successfully recompeted in 2008, and each worked with several collaborating sites at academic institutions across the country.
The centers were recompeted in 2014 and 2020 in collaboration with the National Institute of Neurological Disorders and Stroke and the National Institute of Mental Health.
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. Center research areas include genetics, proteomics, neurobiology, pathophysiology, epidemiology, and behavioral studies.
Past center studies have included:
- Examination of brain circuits in mouse models and humans to determine the causes of heightened sensitivity to sound in FXS
- Evaluation of molecules that seem to play important roles in FXS to identify possible targets for future drug development
- Identification of possible additional genes associated with likelihood of developing epilepsy
- 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, an adult-onset disease associated with FMR1 mutation
- Restoration of partial function to the Fragile X protein 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 cells
- Newborn screening, including methods of testing immediate and extended family members, and the impact of newborn screening on the family
- Development of 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
- Baylor College of Medicine, Houston
- Cincinnati Children's Hospital Medical Center, Cincinnati
- Fragile X Center at Emory University, Atlanta