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Alessandro Gozzi and colleagues found that Shank3-deficient mice have disrupted frontocortical functional connectivity, which is associated with impaired communication and social behaviors. -
SFARI Investigators will give a number of presentations at Neuroscience 2019 in Chicago, IL (October 19–23). -
Findings from the first SPARK genetics study have now been published. The study, which analyzed whole-exome and genome-wide genotyping data from 457 autism families, confirmed known … -
New Simons Searchlight data were recently added to SFARI Base. This data release included phenotypic data from individuals with 16p11.2 copy number variants (CNVs), 1q21.1 CNVs … -
The Simons Variation in Individuals Project (Simons VIP) has been recently rebranded as Simons Searchlight. The new name aims to better reflect the program’s mission to build … -
On April 18, 2019, SFARI brought together autism specialists and child development experts to explore the short-lived yet critical period of infancy. Understanding how cognition, motor skills … -
Kevin Bender, Stephan Sanders and colleagues show that there is an unexpectedly critical role for the autism risk gene Scn2a, which encodes the sodium channel NaV1.2, in … -
Paul Sternberg and colleagues establish an initial pipeline in C. elegans to screen autism-associated missense mutations for functional effects. -
Susan Bookheimer and colleagues show that the degree of sensory overresponsivity in individuals with autism may be driven by distinct patterns of connectivity between the prefrontal cortex and … -
SFARI Investigator Dan Feldman discusses the E-I ratio hypothesis in autism and his lab’s recent studies that aimed to test it. -
Anthony-Samuel LaMantia, Thomas Maynard and colleagues show that a mouse model of 22q11.2 deletion syndrome has fewer long-distance cortico-cortical connections, which is caused in … -
Two studies from Brigitta Monz, Richard Houghton and colleagues provide examples of the effectiveness of SPARK’s research match program to rapidly recruit thousands of individuals for the … -
Peter Kind and colleagues show that brief treatment with lovastatin results in sustained correction of physiological and behavioral deficits in a rat model of fragile X syndrome. -
Using single-nucleus RNA sequencing of postmortem cortical tissue from individuals with ASD, Arnold Kriegstein and colleagues identify upper-layer excitatory neurons and microglia as key cell types … -
New data were recently added to SFARI Gene. This data release included the addition of new genes and copy number variant loci associated with autism. New mouse and … -
Timothy Yu and colleagues analyzed exome sequencing data to estimate that recessive mutations contribute to approximately 5 percent of all cases of autism, including 10 percent of females. -
SFARI is pleased to announce that it intends to fund nine grants in response to the 2019 Research Award request for applications. -
Olga Troyanskaya, Robert Darnell and colleagues applied deep-learning methods to whole-genome sequencing data from SSC families and identified a clear enrichment for de novo noncoding variation … -
James Ellis and colleagues used a sparse co-culture system for iPSC-derived cortical neurons to assess neuronal connectivity, demonstrating increased connectivity in SHANK2-mediated ASD. -
Mark Zylka and colleagues generated single-cell RNA-seq data from wild-type mouse cortex during early development and demonstrated how such a resource can be used to … -
On June 14, 2019, Alistair Ward and Chase Miller will introduce SFARI Viewer and show how this online platform can be used to visualize and analyze genomic and … -
SFARI held its fourteenth science meeting September 30–October 2, 2018. SFARI investigators, collaborators and foundation staff came together to discuss recent findings in autism genetics, molecular and … -
More than 65,000 people with autism are now enrolled in SPARK, making it the largest autism research study to date. Many of these individuals and their families … -
The neurodevelopmental condition can result from mutations in the noncoding regions of the human genome, new research demonstrates for the first time. -
SFARI Investigator Seth Shipman discusses his lab’s research on the molecular and cellular mechanisms shaping brain development and how the Bridge to Independence Award is helping him … -
New data were recently added to SFARI Gene. This data release included updated gene scores for candidate autism risk genes, as well as the addition of new genes …
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… Fellow in Mathematics. -
… l’Ouest-de-l’Île-de-Montréal [email protected] (514) 630-2225, ext. 5257 -
SFARI staff and collaborators will be presenting a number of posters about SFARI projects and resources at the International Society for Autism Research (INSAR) 2019 Annual Meeting in … -
SFARI Investigators and SFARI science staff will be giving a number of oral presentations at the International Society for Autism Research (INSAR) 2019 Annual Meeting in Montreal, Canada … -
Four current and former SFARI Investigators are among the more than 200 newly elected members of the American Academy of Arts & Sciences, one of the nation’s oldest … -
Eleven researchers supported by the Simons Foundation are among the latest batch of prominent leaders in the arts and sciences, business, philanthropy and public affairs, elected as fellows … -
SFARI announces that it has awarded six grants in response to the Genomic Analysis for Autism Risk Variants in SPARK request for applications. These grants will help to … -
On September 25, 2018, SFARI convened a workshop with the aims of discussing current research on sensory processing in autism and bringing together investigators that conduct animal- and … -
Kyle Kai-How Farh and Stephan Sanders developed a deep-learning method to predict risk mutations that affect mRNA splicing and contribute substantially to neurodevelopmental disorders. -
Vinod Menon and colleagues report that a difference in the activation of a voice-processing network comprising reward and salience detection systems is a distinguishing feature of autism. -
SFARI is pleased to announce that it has selected seven new clinical sites as a result of the 2019 SPARK Clinical Site Network request for applications. These sites … -
Mark Daly and colleagues report the results of a large genome-wide association meta-analysis of more than 18,000 individuals with ASD, including the newly genotyped Danish … -
Family-organized groups are planning a number of meetings in 2019 for individuals with rare genetic neurodevelopmental conditions, including those due to 16p11.2 copy number variants and … -
SFARI Viewer, an online platform to visualize and analyze SFARI genomic data, was recently launched. This tool was developed through a collaboration between the SFARI Informatics team, Frameshift … -
Meta–Analysis of De Novo Mutations Yields Longer List of Risk Genes for Neurodevelopmental Disorders
Evan Eichler and colleagues performed a meta-analysis of de novo mutations from individuals with ASD, intellectual disability or developmental delay and found new risk genes for neurodevelopmental … -
Stephan Sanders and colleagues used a machine learning approach to analyze whole-genome sequencing data from more than 1,900 SSC families and found that de novo noncoding … -
Dan Feldman and colleagues analyzed four mouse models of autism and found that alterations in the excitation-inhibition ratio may serve as a homeostatic mechanism to prevent network … -
SFARI is pleased to announce that it intends to fund 15 grants in response to the Winter 2019 Pilot Award request for applications (RFA). -
New data were recently added to SFARI Gene. This data release included updated gene scores for candidate autism risk genes, as well as the addition of new genes …
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Autism BrainNet is now distributing frozen and fixed postmortem brain tissue from individuals with autism spectrum and other neurodevelopmental disorders, as well as neurotypical individuals, for use in … -
A new, improved version of SFARI Base that streamlines and facilitates the process whereby researchers can request access to SFARI data and biospecimens as well as the submission … -
On February 22, 2018, SFARI organized a workshop on the uses of digital tools for phenotyping cognition and behavior in brain disorders. Goals of the workshop included learning …