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 advance the understanding of the genetic basis of autism spectrum disorder.
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 human-based studies to foster opportunities for translational research.
This issue of the SFARI newsletter includes: (1) New SPARK clinical sites announced, (2) Genomic Analysis for Autism Risk Variants in SPARK awardees announced, (3) Additional family meetings of rare genetic developmental disorders planned for summer 2019, (4) Creation of induced pluripotent stem cells from SFARI biospecimen samples – Request for information, (5) SFARI workshop: Coordinating animal- and human-based research on sensory alterations in autism spectrum disorders, (6) Highlights of SFARI-funded research, (7) Summer 2019 Pilot Award – Request for applications, (8) Upcoming lecture: David Van Essen, “Mapping human cerebral cortex: Structure, function, connectivity, development and evolution”, (9) Upcoming lecture: David Ginty, “Altered somatosensory processing in autism spectrum disorders: Mechanisms and emerging therapeutic opportunities”, (10) Recent media coverage of SFARI.
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 will join the existing SPARK clinical site network and contribute to SPARK recruitment and engagement goals.
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 mutations in ASXL3, CHAMP1, DYRK1A, HNRNPH2, PPP2R5D, SCN2A and STXBP1 single genes. SFARI can help facilitate research opportunities at these meetings by connecting investigators with families.
This issue of the SFARI newsletter includes: (1) Winter 2019 Pilot awardees announced, (2) Autism BrainNet begins distribution of new postmortem brain tissue, (3) SFARI Viewer has launched, (4) SFARI Gene: New data release, (5) Highlights of SFARI-funded research, (6) 2019 Novel Outcome Measures in ASD – Request for applications, (7) Summer 2019 Pilot Award – Request for applications.
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 and the University of Utah, with the goal to facilitate data exploration and analysis from SFARI collections. These include the Simons Simplex Collection and SPARK.
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 variants in distal regions of promoters confer risk of ASD.
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 and copy number variant loci associated with autism. New mouse and rat models were also added.