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SFARI November 2017 announcements: SFARI 2017 Pilot and Research awardees announced, SFARI Gene: New data release and more

This issue of the SFARI newsletter includes: (1) SFARI 2017 Pilot and Research awardees announced, (2) SFARI Gene: New data release, (3) Whole-exome sequencing of SPARK: New data release, (4) SFARI Social at Neuroscience 2017, (5) Presentations by SFARI Investigators at Neuroscience 2017, (6) 2018 Pilot and Research Awards -— Request for Applications, (7) Highlights of SFARI-Funded Research, (8) Upcoming lecture: Daniel Geschwind, “Autism genetics: Searching for coherence”, (9) Past lecture: Paola Arlotta, “Understanding autism and other neurodevelopmental disorders: From the embryo to brain organoids”, (10) Past lecture: David Ledbetter, “Leveraging long-term health data and exome sequencing for autism-related gene discovery”.

SFARI Gene: New data release

New data were added to SFARI Gene in October 2017. This data release included updated gene scores for candidate autism risk genes, new rodent models and new genes and copy number variant loci associated with autism.

SFARI 2017 Pilot and Research awardees announced

SFARI is pleased to announce that it has awarded 32 grants (19 Pilot Awards and 13 Research Awards) in response to the 2017 Pilot and Research Awards request for applications (RFA).

SFARI Society for Neuroscience 2017 Social

Join the SFARI science team and leaders in the autism research community for an informal evening of food, drink, conversation and mingling on 13 November 2017 in Washington, D.C.

Benjamin Blencowe, Ph.D.

Benjamin Blencowe holds the Banbury Chair in Medical Research and the Canada Research Chair in RNA Biology and Genomics at the University of Toronto. He also serves as director of the University of Toronto Donnelly Sequencing Centre.

SFARI’s 2018 funding priorities

In this blog post, the SFARI science team provides insight into SFARI’s scientific priorities. A number of experimental design issues to consider when preparing a grant application in response to the 2018 Pilot and Research Awards RFA are also discussed.

Cellular and circuit effects of SCN2A haploinsufficiency

Dysfunction in SCN2A, which encodes the neuronal sodium channel NaV1.2, is strongly linked to autism spectrum disorder (ASD). Building on the recent finding that multiple ASD-associated mutations in SCN2A dampen or eliminate NaV1.2 channel function, the Bender Lab is now exploring how loss of SCN2A function affects developing and mature neuronal networks in mouse models.

Restoration of a splicing regulatory network commonly disrupted in autism

Blencowe will identify and characterize small molecules to rescue activity-dependent neuronal microexon splicing, providing a potential therapeutic strategy for autism.

New SFARI Gene website launched

The SFARI Gene website has been redesigned. The updated platform features a streamlined user interface and new data visualizations, which were engineered with the aim of making it easier for users to find the latest information about genes implicated in autism susceptibility.

A Conversation with Sharmila Banerjee-Basu about SFARI Gene

Sharmila Banerjee-Basu, founder and chief scientific officer at MindSpec Inc., discusses SFARI Gene and how it is changing the face of autism genetics research.