Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability.
Linking mitochondrial metabolism and autism during human neuronal development
In this pilot study, Pierre Vanderhaeghen and his team aim to explore the intricate connections between ASD, mitochondrial function, and human neuronal development, with a specific focus on developmental timing. Innovative tools, including an in vitro model for studying mitochondrial morphology, dynamics, and function and an in vivo xenotransplantation model of human cortical neurons, will be used to achieve this. The investigation seeks to understand how mitochondrial dynamics and metabolism contribute to the pathology of ASD-linked mutations in genes such as MECP2 and SYNGAP1.
Drosophila and zebrafish models added to SFARI Gene
The animal models module of SFARI Gene has recently been expanded to include two new species: Drosophila melanogaster and Danio rerio. As of now, the database lists 55 genes for Drosophila models and 24 genes for zebrafish models, in addition to several models induced by biological or chemical agents.
SFARI 2018 Pilot and Research awardees announced
SFARI is pleased to announce that it intends to fund 36 grants (15 Pilot Awards and 21 Research Awards) in response to the 2018 Pilot and Research Awards request for applications.
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.
Frank McCormick, Ph.D., F.R.S.
Frank McCormick, Ph.D., F.R.S., is the David A. Wood Distinguished Professor of Tumor Biology and Cancer Research at the University of California, San Francisco (UCSF) Helen Diller Family Comprehensive Cancer Center, and the leader of the RAS Initiative at the National Cancer Institute. His current research focuses on the understanding of RAS GTPases and how they can be therapeutically targeted in RAS-driven cancers, which are some of the most commonly occurring and most difficult to treat.
Creation of induced pluripotent stem cells from SFARI biospecimen samples — Request for information
A pipeline for functional assessment of autism-associated missense mutations in C. elegans
Paul Sternberg and colleagues establish an initial pipeline in C. elegans to screen autism-associated missense mutations for functional effects.
Simons Searchlight: New data release
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.
Zebrafish models
SFARI is helping to make zebrafish models of high-risk autism genes available to the research community.
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