Author Description

In its report in the fiscal year 2008 budget for the U.S. Department of Health and Human Services (DHHS), the Senate Committee on Appropriations requested that "the NIH, through the NICHD [the Eunice Kennedy Shriver National Institute of Child Health and Human Development] and other participating Institutes, convene a scientific session in 2008 to develop pathways to new opportunities for collaborative, directed research across Institutes, and to produce a blueprint of coordinated research strategies and public-private partnership opportunities for Fragile X." The NIH Fragile X Research Coordinating Group (formed in March 2007) assumed the task of bringing together representatives from the research and clinical communities along with representatives for affected individuals and family members and other pertinent federal agencies. Three working groups, one for each of the primary disorders associated with Fragile X syndrome (FXS), were formed in March of 2008 and charged with developing comprehensive recommendations for specific high-priority research objectives for FXS and the associated disorders of Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) and Fragile X-associated Primary Ovarian Insufficiency (FXPOI). The goals were designed to be used by the NIH and the FXS, FXTAS, and FXPOI research communities and to be shared with other federal agencies to facilitate coordinated research activities that will lead to timely detection, diagnosis, treatment, and prevention of the targeted disorders.