This research plan describes current research on conditions linked to the FMR1 gene, including Fragile X syndrome, Fragile X-Associated Tremor and Ataxia Syndrome, and Fragile X-Associated Primary Ovarian Insufficiency and outlines future research areas and directions for NIH.
This 44-page plan identifies priorities for NIH research activities on three conditions known to be associated with the FMR1 gene: Fragile X syndrome, Fragile X-associated Tremor and Ataxia Syndrome, and Fragile X-associated Primary Ovarian Insufficiency. It also describes research directions on the FMR1 gene itself, mutations that affect the gene’s function, and the role of the FMR1 protein in the development and progression of these conditions. It was developed over several years and incorporates input from scientists, healthcare providers, and support organizations with an interest in FMR1-related conditions, as well as families and individuals affected by the conditions.
Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, DHHS. (2019). NIH Strategic Plan for Research on FMR1-Associated Conditions (19-HD-8108). Washington, DC: U.S. Government Printing Office.