Gastrointestinal (GI) distress commonly accompanies autism spectrum disorders (ASDs), significantly impacting the quality of life of those affected and their families. Julia Dallman, in collaboration with John Rawls, plans to use zebrafish as an experimental system, since it allows for the GI tract to be imaged and manipulated in live animals. They aim to determine if GI phenotypes in multiple genetic forms of ASD are caused by convergent gut-intrinsic mechanisms. The expected outcomes would open a new field of GI research for ASD that could suggest treatment strategies for managing GI distress in humans.
A new collaboration between SFARI and the Nancy Lurie Marks Family Foundation will generate hundreds of induced pluripotent stem cells from individuals with autism and related neurodevelopmental conditions. These cell lines will become available to researchers starting next year.
Shinjae Chung and Ted Abel will assess the neural dynamics of sleep neurons in Syngap1 mutant mice, aiming to understand how changes in their activity lead to sleep disturbances and behaviors associated with autism.
SFARI is now curating a set of zebrafish lines to study autism spectrum disorder. This includes mutant lines for 12 ASD risk genes, four of which are currently available to researchers and eight that will be available later this year.
SFARI is helping to make zebrafish models of high-risk autism genes available to the research community.
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.
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.
Simons Searchlight is studying individuals with recurrent genetic variants associated with autism and related neurodevelopmental disorders.
Paul Sternberg and colleagues establish an initial pipeline in C. elegans to screen autism-associated missense mutations for functional effects.
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