SFARI | Search Results for “ben-ari”

Visual, perceptual and neurophysiological alterations in an Scn2a knockout rat model of autism

Atypical visual experience affects many individuals with autism, yet its neuronal underpinnings are poorly understood. In the current project, Davide Zoccolan plans to characterize the visual functions of an Scn2a knockout rat model of autism. The overall aim is to establish the functional relationship between possible alterations of cortical processing and visual perceptual anomalies in autism.

Developing Rat MoSeq to characterize autism models

Sandeep Robert Datta and colleagues seek to understand how mutations in genes implicated in ASD influence the behavior of rats. To do so, they plan to take advantage of new machine learning-based tools to quantitatively dissect the behavior of ASD genetic rat models before and after social experience. The team’s hope is that understanding how ASD risk genes impact behavior will lead to a deeper understanding of the neural basis of ASD.

Validation of an online Neurobehavioral Evaluation Tool (NET) across large autism cohorts

Developing scalable objective measures is important for better understanding the strengths and weaknesses of people with autism and can help researchers to identify biological factors that influence cognitive, emotional and behavioral features associated with the condition. In the current project, Thomas Frazier plans to evaluate a recently developed online tool that uses webcam-collected measures of gaze and facial expressions that can be completed at home and can supplement traditional measures, providing a careful look at attention, language, and several other cognitive and emotional processes.

Prenatal COVID-19 impact on autism risk in genetically susceptible families

MARBLES recruits mothers who have a child with clinically confirmed ASD and are pregnant with another child in order to understand what influences the outcomes of the younger siblings, through what pathways and to identify early markers of ASD. In the current project, Rebecca J. Schmidt plans to leverage the existing infrastructure of the MARBLES cohort to collect data and biologic specimens during the COVID-19 pandemic that will inform biologic responses and their associations with neurodevelopmental outcomes in offspring.

High-resolution proteome mapping in the developing human cerebral cortex to uncover mutationally convergent pathways in autism

Annotation of the synaptic interactome and synaptic pathways relevant for autism

Although some ASD risk genes have hardly been studied, for many others, a wealth of basic research data is already available. In the current project, August Smit and Matthijs Verhage aim to better disclose this available information, especially for synaptic genes, to support the translation of genetic findings into specific disease concepts.

Quantitative motor phenotyping in nonsyndromic autism and chromatin modifying disorders

Motor impairments are prevalent in individuals with ASD without a known genetic syndrome (nonsyndromic ASD) and with a known genetic syndrome (syndromic ASD) and can negatively impact environmental exploration, social engagement and language development. In the current project, Rujuta Wilson aims to use quantitative measurement to develop improved methods to identify motor impairments in individuals with ASD and chromatin modifying disorders that can serve as targets for treatment and be implemented into clinical trials.

Functionally characterizing genetic variants in the activation domains of autism-associated transcription factors

Many individuals with autism carry novel mutations in transcription factors, which are critical regulatory proteins. In the current project, Max Staller plans to investigate the functional consequences of mutations in activation domains, the regions of transcription factors that activate target genes.

The role of BAF subunit genetic variants in autism

Understanding oral texture feeding issues in mouse models of autism

While oral texture aversion and concomitant feeding issues are a significant and persistent problem for many autistic individuals, the mechanisms underlying oral texture sensitivity disruptions in ASD are not understood. Here, Lauren Orefice aims to identify the cellular and circuit-level mechanisms of dysfunction underlying oral texture hypersensitivity in mouse models for ASD, which may lead to a novel therapeutic target for texture-based feeding issues.