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Nov. 10, 2009 • No.

1 • A Newsletter from the Simons Foundation Autism Research Initiative

Director's column: The gene-cognition gap


Simons Simplex Collection recruits 1,500 families
SFARI awards 23 new grants
Genome scan links chromosome 5 to autism
SFARI Gene offers animal model modules

Welcome to the first newsletter of the Simons Foundation Autism Research Initiative (SFARI). This
periodic newsletter will highlight news and items of interest about our research community. More
information can be found at sfari.org.

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forward this newsletter to anyone who might be interested in our work.

The gene-cognition gap


In the first of a continuing series of columns, SFARI Scientific Director Gerald
D. Fischbach discusses the rapidly evolving neuroligin saga, saying it offers a
rare opportunity to bridge the gap between genes and cognition. "It may be
naïve to think that we are on the verge of moving from an identified genetic
risk factor (neuroligin) to a defined cellular alteration (excitatory-inhibitory
imbalance), a change in circuit behavior (reduced synchronization), and a
neural correlate of cognition (gamma oscillation)," writes Fischbach. "It will
take time, imagination, collaboration and resources to refine these hypotheses. But this is what we
should be about. The movement from genes to behavior is the Holy Grail of autism research."

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Simons Simplex Collection recruits 1,500 families


SFARI has recruited more than 1,500 simplex families into its Simons Simplex
Collection, moving closer to the initial goal of collecting DNA samples and
phenotypic data from a total of 2,000 families. The Simons Simplex Collection
(SSC) is a core project and resource of SFARI. The primary goal of the SSC is to
establish a repository of genetic samples and phenotypic data that can aid in
the effort to shed light on the causes of autism.

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SFARI awards 23 new grants
SFARI announces the addition of 23 distinguished investigators to our
research community as a result of the 2009 RFA. The addition of these
researchers brings the total number of laboratories currently supported by
SFARI to 87, as part of our effort to support bold, imaginative and rigorous
research aimed at understanding the causes of autism. A full list of our funded
research can be found at sfari.org/current-grant-recipients.

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Genome scan links chromosome 5 to autism


A news story on our website highlights a recent finding that a detailed genetic
scan of families with autism has found a region on chromosome 5 that is
strongly associated with autism, and two new genomic areas that may harbor
rare variants relevant to the disorder. Previous studies of autism have
implicated spots on chromosomes 15, 16, 5 and many others, but this is the first
to link the disorder to the 5p15 region.

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SFARI Gene offers animal model modules


SFARI Gene, the world's first genetic database for autism, is launching a new
animal model feature. Continuously updated by a team of curators, the
database allows researchers to search for genes that have been linked to autism
in the peer-reviewed scientific literature. The new module identifies the
relevant literature on animal models carrying mutations in any of the genes
listed in SFARI Gene.

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