SFARI | Search Results for “syngap1”

Photo of a A neurodivergent teenage girl (with autism and Rett syndrome) wearing bright headphones and smiling while sitting next to her personal care assistant at home.

Using the Linear References from the Pangenome to Discover Missing Autism Variants

Image of the hippocampus was taken with an ultra-widefield high-speed multiphoton laser microscope.

2025 Autism Rat Consortium Meeting Held in New York City

On September 29, 2025, the SFARI Autism Rat Consortium (ARC) held its annual meeting in the Usher Institute of the University of Edinburgh. This year’s event brought together ARC PIs and trainees who specialize in the use of rat models.

Linking human-specific synaptic developmental timing to early cortical circuit function and plasticity in autism spectrum disorders

SFARI Funds 5 Projects Aiming to Understand Early Neural Circuit Development in Autism

SFARI is pleased to announce it will fund five projects investigating the influence of autism-associated risk genes on early neurodevelopment and links to later circuit-level functional outcomes. These awards will provide up to $3.6 million over 4 years to each team of researchers.

Gut-intrinsic mechanisms of gastrointestinal dysmotility in animal models of autism

Oligodendrocyte dysfunction in mouse models of autism

Restoration of KCC2 expression as a potential therapeutic avenue to treat autism spectrum disorder

The overall goal of Xin Tang’s project is to yield insights into the molecular programs that lead to reduced KCC2 gene expression in neurons from individuals with autism and to consequently develop mechanism-guided drugs that restore KCC2 gene expression and ultimately reverse symptoms of the condition.

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.

Two parents of children with the MED13L genetic mutation at a conference hosted by Simons Searchlight.

Simons Searchlight December 2023 Update: New Phenotypic Data Available

New phenotypic data from Simons Searchlight participants were recently added to SFARI Base. This release includes data from individuals with 94 gene changes and 15 copy number variants known to be connected to autism.

The cortical head direction system as a model for systems-level alterations in rat models of autism

One of the challenges in assessing rodent models of autism/intellectual disability is linking specific genetic alterations to changes in neural function and behavior. Paul Dudchenko plans to address this challenge by using the head direction cell system — comprised of neurons that encode direction — to characterize rigid and flexible neural coding in Fmr1, Grin2b and Syngap1 knockout rats. This characterization will provide rich data on both the neural systems and the behavioral capacities of these three rodent models.