SYNGAP1 encodes a neuronal Ras GTPase activating protein and is a significant risk gene associated with autism spectrum disorders (ASDs) and intellectual disability (ID). As many of the genetic mutations in individuals with SYNGAP1-related ID (SRID) lead to decreased SYNGAP1 expression, SRID is an ideal candidate for genetic and antisense oligonucleotide–based therapies that increase SYNGAP1 expression. Leveraging recently discovered regulatory mechanisms of SYNGAP1 expression, Richard Huganir’s team plans to design precision antisense oligonucleotides that increase SYNGAP1 expression and to validate them using human pluripotent stem cell models of SRID. These studies will help to advance the therapeutic potential of antisense oligonucleotide–based treatments for SRID as well as other monogenic forms of ID and ASD.
Frank McCormick will address the biochemical mechanism by which mutations in SYNGAP1 drive ASD and intellectual disability. Elucidation of the mechanism of SYNGAP1 negative regulation of RAS and its effector pathways in neurons will further our understanding of the role of this pathway in health and disease, and will shed light on potential ways in which targeted RAS pathway inhibition may be therapeutically relevant.
Shinjae Chung and Ted Abel will assess the neural dynamics of sleep neurons in Syngap1 mutant mice, aiming to understand how changes in their activity lead to sleep disturbances and behaviors associated with autism.
Sung Eun “Samuel” Kwon plans to use a recently developed optical reporter of ERK activity, combined with a neuronal activity reporter, to monitor the dynamics of ERK signaling and neuronal activity in awake-behaving SynGAP mutant mice.
SFARI is pleased to announce that it has selected six finalists in response to the 2016 Bridge to Independence Award request for applications. This awards program is intended to invest in the next generation of top autism investigators by identifying talented early-career scientists and facilitating their transition to an independent research career.
A number of autism risk factors converge on one cellular pathway: abnormal remodeling of the cell's structural systems through the signaling protein Rho, says SFARI’s associate director for research, Alan Packer.
Today, we’re announcing our annual request for applications (RFA) for SFARI Pilot and Research Awards. Letters of intent (LOIs), the short statements that precede full applications, are due no later than 9 October, 2015. As we do every year, we’ve updated this column to provide a better picture of how the SFARI science team makes decisions on research proposals.
SFARI Gene is an evolving database for the autism research community that is centered on genes implicated in autism susceptibility.
SFARI is helping to make mouse models of high-risk autism genes and copy number variants available to the research community.
The Simons Variation in Individuals Project (Simons VIP) is studying individuals with recurrent genetic variants that increase autism risk.
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