Dec. 18, 2009 • No.

2 • A Newsletter from the Simons Foundation Autism Research Initiative

SFARI announces 2010 RFA

SFARI Base allows easy navigation of simplex collection
SFARI Gene database offers interactive features
Loss of inhibitory neurons marks autism mouse models
Investigator profile: Michael Wigler

SFARI announces 2010 RFA

The Simons Foundation Autism Research Initiative (SFARI) is now accepting
letters of intent for its 2010 Request for Applications. SFARI solicits
applications from individuals who will conduct bold, imaginative, rigorous
research relevant to the spectrum of prevalent disorders. A deeper
understanding of the mechanisms underlying Autism Spectrum Disorders will
require approaches at multiple levels of analysis, including but not limited to
studies focused on gene discovery, molecular mechanisms, and cognition and
behavior. We will consider proposals at all of these levels. A Letter of Intent is due by Jan. 6, 2010.

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SFARI Base allows easy navigation of simplex collection

With over 1,500 families recruited, the Simons Simplex Collection (SSC) is one
of the largest collections of families with autism in the world. The SSC’s
innovative database allows researchers easy access to the collection’s rich set of
rigorously collected phenotypic data and biospecimens. SFARI Base is a central
database of clinical and genetic information about families affected with
autism. The database allows approved users to navigate and extract data using
nothing more than a standard Web browser.

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SFARI Gene database offers interactive features

SFARI Gene offers researchers the ability to view and annotate autism-related
genes in an online interactive database. Researchers can submit new genes and
annotate existing genes by logging into the SFARI Gene website. Continuously
updated by a team of curators, SFARI Gene allows researchers to search for genes that have been linked
to autism in the peer-reviewed scientific literature.

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Loss of inhibitory neurons marks autism mouse models

A new story on our website explores recent findings that autism may be the
result of faulty wiring during early brain development. Two independent
studies examining the origins of circuit disruption found defects in a particular
type of interneuron — intermediary cells that link sensory neurons to motor
neurons — in the cortexes of mice.

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Investigator profile: Michael Wigler

Cold Spring Harbor Laboratory researcher Michael Wigler rocked the autism
field in 2007 when he discovered that large deletions or duplications in DNA,
dubbed copy number variations (CNVs), are much more common in people
with autism than in the general population. He now focuses on finding
spontaneous mutations in samples from the Simons Simplex Collection, which
aims to collect samples from 2,000 simplex families, which have only one child
with autism and unaffected parents and siblings.

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