Problems associated with mutation of FMR1 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 in different aspects of Fragile X. The Group consulted with outside experts and in 2008 published a long-term agenda for FMR1 research, the NIH Research Plan on Fragile X Syndrome and Associated Disorders. Finding treatments and supporting families affected by Fragile X and its related disorders are two of the 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 usage.
Among the Committee’s goals related to Fragile X syndrome are the following:
The NICHD’s goals for research on Fragile X syndrome are consistent with those outlined in the NIH Research Plan on Fragile X Syndrome and Associated Disorders. NICHD research efforts related to Fragile X, FXPOI, and FXTAS address each condition specifically as well as more general aspects of Fragile X mutations that may affect all three conditions. Some specific NICHD research goals include the following:
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