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:
- Goal I. Advance understanding of the pathophysiology of Fragile X syndrome.
- Goal II. Improve appropriate and timely diagnosis of individuals with Fragile X by conducting population-based screens for the syndrome.
- Goal III. Validate and use functional measures of the manifestation of Fragile X across the life span.
- Goal IV. Initiate a broad-based program of research on the efficacy of treatments for Fragile X syndrome.
- Goal V. Advance understanding of the ramifications of Fragile X syndrome for families.
- Goal VI. Create an infrastructure and resources for research in Fragile X to maximize research efficiencies and promote large-scale research collaborations.
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:
- Understanding how individuals with Fragile X syndrome learn language, process visual information, and react to sensory information. In concert with these studies, other research is detailing brain development in infants with Fragile X to understand how their brains differ from typically developing children and from children with autism and other developmental disorders.
- Finding treatments for the underlying protein dysfunction that causes many of the intellectual and developmental symptoms of Fragile X syndrome, and learning how this dysfunction is involved with Fragile X-associated disorders.
- Understanding which diseases or health problems are associated with the mutated Fragile X gene and determining whether the mutated gene affects risk for other diseases or conditions.