New Simons Searchlight data were recently added to SFARI Base. The data released included phenotypic data from individuals with 16p11.2 copy number variant (CNVs), 1q21.1 CNVs, 7q11.23 duplication and variants in 32 single genes associated with autism and related neurodevelopmental conditions.
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Phenotypic data from 310,649 participants enrolled in SPARK, including 123,444 individuals with ASD, are now available to approved researchers. Genomic data (whole-exome sequencing and genome-wide genotyping data) are also available for 81,172 SPARK participants. Of these, 3,568 genomes and 34,164 exomes are from individuals with ASD.
SFARI is pleased to announce that it intends to award ten grants in response to the 2022 Human Cognitive and Behavioral Science request for applications.
SFARI is pleased to announce that it intends to fund 16 grants in response to the 2022 Pilot Award request for applications.
New zebrafish lines with mutations in the high-confidence autism risk genes DYRK1A and GRIN2B have been added to SFARI resources.
Phenotypic data from 296,307 participants enrolled in SPARK, including 117,203 individuals with ASD, are now available to approved researchers. Genomic data (whole-exome sequencing and genome-wide genotyping data) are also available for 81,172 SPARK participants. Of these, 3,568 genomes and 34,164 exomes are from individuals with ASD.
Clinical Research Associates, L.L.C., an affiliate of the Simons Foundation, has recently launched a randomized controlled trial to test the safety, tolerability and efficacy of arbaclofen in 16p11.2 BP4-BP5 deletion syndrome.
In a series of articles published in the journal Nature Genetics, researchers used data from the SPARK research cohort, which was created to advance our understanding of the complex genetics of autism and includes genetic data from nearly 43,000 people with autism. The findings show differences in genetic influences among people all along the autism spectrum.
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