Fragile X-Associated Primary Ovarian Insufficiency (FXPOI): NICHD Research Goals

The NICHD’s goals for FXPOI research are consistent with the NIH Research Plan on Fragile X Syndrome and Associated Disorders. NICHD research efforts related to Fragile X and its associated disorders address each condition specifically, as well as more general aspects of Fragile X mutations that may affect all three conditions. Research goals include the following:

  • Identifying model organisms with which to advance the study of FMR1 premutations and FXPOI.
  • Advancing understanding of how the FMR1 premutation affects fertility. The NICHD pursues long-term studies to determine whether certain conditions lead to POI in premutation carriers. This research could help establish genetic causes of other forms of POI and determine other health risks women with the premutation might face.
  • Defining biomarkers that might help predict which premutation carriers will develop POI and how much time they have before the onset of infertility and/or menopause.
  • Developing effective strategies for counseling women with an FMR1 premutation and their families. Women with a FMR1 premutation may know that a genetic risk runs in their families, or may be learning about FMR1 for the first time. Genetic counselors and other health care providers would benefit from guidelines for discussing the diagnosis of FXPOI, its impact on fertility, and the potential impact on a future child.
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