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Shared Neurobiology of Fragile X Syndrome and Autism (R21)
Release Date: May 24, 2006
Announcement Number: PA-06-430
Application Receipt Date:
October 1, 2006
February 16, 2007
June 16, 2007
October 16, 2007
February 16, 2008
June 16, 2008
October 16, 2008
February 16, 2009
June 16, 2009
Funding Contact: Laura Mamounas, Ph.D.
Program Area: Neurogenetics
Brief Description:
This Funding Opportunity Announcement (FOA) solicits NIH Small Research Grant (R03) applications for the support of research
which is aimed at characterizing, understanding and treating etiological and pathophysiological mechanisms common to both
Fragile X syndrome (FXS) and autism (including autism spectrum disorders such as Rett syndrome). Between 2.5% and 6% of individuals
with autistic feature have FXS, and approximately 15% to 25% of children with FXS have autism. An additional 50% to 90% of
children with FXS exhibit some symptoms and features associated with autism, including poor eye contact, hand flapping, hand
biting, speech perseveration and other language abnormalities and problems, as well as tactile defensiveness, mental retardation
in the moderate to severe range, developmental delay, sensory hyperarousal, and social anxiety with mood liability. Researchers
have argued that autism and autistic symptoms in FXS reflect a common etiological or pathophysiological pathway underlying
the two conditions. Ongoing basic neuroscience research on FXS in model systems like the mouse and fly are providing a wealth
of information at multiple levels – subcellular, cellular, and intercellular networks or circuits – to delineate the neurobiology
of this disorder. These studies should dissect components of the neurobiology of autism, especially in patients with both
FXS and autism, and identify novel targets for new drugs to treat both disorders. Applications submitted in response to this
FOA should focus on a topic related to understanding neural pathways, circuits, systems and molecules that play a role in
the etiology or pathophysiology of FXS and may be implicated in autism (including autism spectrum disorders such as Rett syndrome).
Studies emphasizing the identification of drug targets for new therapeutic drugs to treat FXS and autism are particularly
encouraged. Research projects supported under this FOA that include human subjects should include children affected with both
FXS and autism and animal studies may include several models systems, e.g., mouse, fly and zebrafish. Basic neuroscience research
in model systems should focus on both FXS and autism.
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