SFARI | Search Results for “syngap1”

SFARI is helping to make zebrafish models of high-risk autism genes available to the research community.

Network activity and homeostatic plasticity as endophenotypes for autism

ASD is believed to modify the balance of excitation and inhibition in brain circuits and is frequently accompanied by seizures, but precisely how and why this occurs is poorly understood. In this project, Sacha Nelson and colleagues plan to use an in vitro slice culture platform in combination with calcium imaging techniques to record activity from brain regions important for sensation and memory in four established genetic mouse models of ASD. By studying changes in neuronal and epileptiform activity over development, the progression of brain pathology and the mechanisms that normally compensate for it will be better understood.

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.

Photo of a little boy sitting with Wendy Chung.

Simons Searchlight

Simons Searchlight is studying individuals with recurrent genetic variants associated with autism and related neurodevelopmental disorders.

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.

Creation of induced pluripotent stem cells from SFARI biospecimen samples — Request for information

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.

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 following single genes: ADNP, ASXL3, CHAMP1, CHD8, CSNK2A1, DYRK1A, GRIN2B, HIVEP2, HNRNPH2, MED13L, PACS1, PPP2R5D, SCN2A, SETBP1, STXBP1 and SYNGAP1.

Identifying convergent cortical circuit impairments across multiple mouse models of autism

Jess Cardin and Michael J. Higley will establish a functional screen (using a CRISPR/Cas9-induced gene disruption system and multiscale in vivo calcium imaging in awake mice) for the assessment of common cellular- and circuit-level cortical dysregulation phenotypes associated with mutations in ASD risk genes.