Program seeks Council approval for renewal of an initiative entitled “Centers for Collaborative Research in Fragile X and FMR1-Associated Conditions.” Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability. It is caused by large mutations, called “full mutations,” in the FMR1 gene on the X chromosome. Another type of FMR1 mutations, called “premutations,” also play a role in a range of medical conditions that affect children, adults, and seniors. These include Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), which leads to disabling neurological symptoms in middle-aged and elderly adults; and Fragile X-associated Primary Ovarian Insufficiency (FXPOI), which can lead to early menopause and infertility inaffected women.
Since 2000, Congressional Appropriations language has directed NIH to fund at least 3 multidisciplinary research centers on Fragile X. These centers have contributed to major advances in understanding the molecular, cellular and circuit mechanisms that underlie FMR1-associated conditions, including identification of therapeutic targets that have shown promise in animal studies. However, none of these promising basic and preclinical advances have yet translated to efficacious treatments for children and adults with FXS or other FMR1-associated conditions.
The overarching goal of the Fragile X Centers Program is to accelerate the translation of basic science discovery to effective clinical interventions. Centers will engage transdisciplinary teams that include both basic and clinical investigators to address research priorities identified in the NIH Fragile X Strategic Plan.
The multidisciplinary research supported by the FXS/FMR1 centers is directly relevant to the following NICHD strategic plan themes:
- Theme 1: Understanding the Molecular, Cellular, and Structural Basis of Development
- Theme 4: Improving Child and Adolescent Health and the Transition to Adulthood
- Theme 5: Advancing Safe and Effective Therapeutics and Devices for Pregnant and Lactating Women, Children, and People with Disabilities
Support specifically for FXPOI research also addresses the following NICHD Strategic Plan theme:
- Theme 3: Setting the Foundation for Healthy Pregnancies and Lifelong Wellness
There is also a growing recognition among NIH staff, researchers, and advocacy organizations of the need to address both research participant and scientific workforce diversity across Fragile X and FMR1 research. This will be priority for the next round of Fragile X Centers and is closely aligned with the NICHD Strategic Plan cross-cutting topic of health disparities, as well as the goals of the NICHD STRIVE initiative.
Intellectual andDevelopmental Disabilities Branch (IDDB)
Back to Concept Review by Council