Tag: SCN2A

In vivo calcium dynamics in dendritic spines of Shank3 and Scn2a mutant mouse models of autism Converging lines of evidence suggest that dendritic spine pathology is a common feature in ASD. Alex Kwan will use advanced optical imaging methods in awake behaving mice to determine how…

Additional family meetings of rare genetic developmental disorders planned for summer 2019 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,…

SFARI Winter 2019 Pilot awardees announced SFARI is pleased to announce that it intends to fund 15 grants in response to the Winter 2019 Pilot Award request for applications (RFA).

SFARI facilitates research opportunities at family meetings of rare genetic developmental disorders 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, PACS1,…

SFARI 2018 Explorer awardees announced SFARI is pleased to announce that it expects to have funded 22 grants in response to the Explorer Awards request for applications (RFA) this year.

Simons Variation in Individuals Project (Simons VIP): New data release New Simons VIP Phase 2 data were recently added to SFARI Base. This data release included data from individuals with 16p11.2 copy number variants, 1q21.1 CNVs and mutations in the…