FXS is the leading heritable form of intellectual disability and the neurodevelopmental problems related to both full mutation and premutation forms of the fragile X gene. The full mutation is responsible for FXS and is the leading known single-gene cause of autism. The smaller, premutation form of the gene is the leading known cause of fragile X-associated premature ovarian failure (POF) in adult women, and can also cause ADHD and autism spectrum disorders.
The award is of particular importance to the NFXF and the families it serves. Besides the foundation's pilot funding of the Hagerman team's research, it is also impacted in the following ways:
-- The award adds to the hope of families touched by FXS, POF, and FXTAS,
and confirms that the pace of research is accelerating. It also
demonstrates the power of donations to organizations like the NFXF,
which fund pilot studies of scientists such as the Hagermans.
-- NFXF parent advocates played a critical role in securing the
Congressional directives which resulted in funding this consortium
-- The award advances the mission of the NFXF in providing a significant
boost for research across the family of Fragile X-related disorders
(FXS/autism, FXTAS, POF).
According to Paul Hagerman, "The National Fragile X Foundation has been the most powerful voice for a broad approach to Fragile X research, which is so critical if we are to develop integrated treatments for children with fragile X syndrome -- and their grandfathers."
Several aspects of the consortium research will involve both
molecular/cellular and animal models for the developmental problems that
accompany both the premutation and full mutation of the Fragile X gene.
Thus, it is hoped that treatments for FXTAS, Alzheimer's and Parkinson's
disease, FXS and autism may flow from the consor
|SOURCE The National Fragile X Foundation|
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