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 genetic findings and identified new candidate autism risk genes.
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 and variants in 21 single genes associated with autism and related neurodevelopmental disorders.
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 strong partnerships between researchers and families in order to shed light on genetic neurodevelopmental conditions. An updated website, improved registration process and more resources are also available, including new opportunities for individuals with a genetic diagnosis to join Simons Searchlight.
SFARI Investigator Dan Feldman discusses the E-I ratio hypothesis in autism and his lab’s recent studies that aimed to test it.
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 rat models were also added.
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 in ASD.
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 phenotypic data from the SSC and SPARK.
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 system-level mechanisms, as well as clinical studies. The meeting featured keynote and session presentations, in addition to demo sessions of online platforms for visualizing and analyzing data sets relevant for autism research.
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 are actively participating in research opportunities through the research match program.