Problems associated with the FMR1 gene mutation fall into the research portfolios of multiple NIH Institutes, including the NICHD. To help coordinate research on FMR1, the NICHD leads the NIH Fragile X Research Coordinating Group, which includes nine NIH Institutes with research interests on different aspects of fragile X. The group consulted with outside experts and in 2008 published a long-term agenda for FMR1 research, called the NIH Research Plan on Fragile X Syndrome and Associated Disorders. Finding treatments and supporting families impacted by fragile X and its related disorders are major goals of the plan.
The NIH is committed to continuing to learn as much as possible about the FMR1 gene and its far-reaching effects. The story of fragile X might also serve as an effective and useful model for studying other diseases, and for moving research discoveries from the laboratory into everyday life.
Among the group's goals with implications for FXTAS are the following:
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