SFARI | Search Results for “ben-ari”

Understanding the neurobiology of attachment deficits in ASD

Devanand Manoli’s group has developed tools to determine how mutations in individual genes cause specific deficits in social attachment in prairie voles. In this project, they will generate voles with mutations in SCN2a, which has been highly correlated with ASD, and determine the patterns of social attachment deficits in these animals; then, they will manipulate neurons expressing OXTR to determine if modulation of their activity can ameliorate deficits in attachment behaviors resulting from loss of SCN2a function.

Characterization of fever-sensitive circuits and their effects on social behaviors in autism mouse models

Dulac aims to identify neurons activated during fever episodes and reveal how they may modulate neural circuits governing social interactions in mice. She also plans to study behavioral changes in autism mouse models during febrile periods.

SSC-ASC Whole-Genome Sequencing Consortium (project 3): Discovery and functional characterization of structural variation in autism

Michael Talkowski will assess the mutational spectrum of structural variation associated with autism risk, as part of a linked number of projects within the SSC-ASC Whole-Genome Sequencing Consortium.

Exploring deficits in lineage-dependent neocortical circuit assembly in a mouse model of fragile X syndrome

Using a battery of cutting-edge approaches, Song-Hai Shi will investigate lineage-dependent, precise, local and long-range cortical neuron circuit assembly in the Fmr1 knockout mouse model of fragile X syndrome.

Neurophysiological impact of abnormal sleep during infancy in 16p11.2 deletion mice

Mark Blumberg will perform behavioral and neurophysiological assessments in 16p11.2 deletion mice to determine whether the early sensorimotor and sleep disturbances observed in autism have a common link.

Linking placental dysfunction, cerebellar white matter alterations and social behavior deficits in a novel mouse model

Anna Penn will assess cerebellar white matter and circuitry alterations in a new mouse model that lacks placental expression of the neurosteroid allopregnanolone. These changes will be compared to those observed in mouse models of ASD risk genes to identify common circuits that are fundamental to the expression of behavioral deficits relevant to ASD.

Establishment of specific cortico-basal ganglia circuits by autism-linked protocadherins

Hisashi Umemori will use knockout mouse models to identify the roles played by a group of ASD-linked protocadherins in regulating specific cortico-striatal circuits, aiming to reveal novel molecular and circuit mechanisms underlying the pathophysiology of ASD.

Autism Innovative Medicine Studies-2-Trials (AIMS-2-Trials): A large-scale collaborative autism research project

Declan Murphy and Will Spooren will lead the Autism Innovative Medicine Studies-2-Trials (AIMS-2-Trials), a large-scale collaborative research project that involves 48 partners across 14 countries. The study aims to develop a better understanding of the biological bases of ASD, develop biomarkers and testing potential drug treatments of the disorder.

Assessing sensory impairments and aberrant cortical circuit activity in Cntnap2 knockout mice

Bilal Haider plans to measure intact cortical circuit activity during quantifiable sensory and behavioral impairments in Cntnap2 knockout mice — a genetically relevant model of autism spectrum disorder (ASD). Findings from these studies are expected to build a detailed picture of how cortical circuit dysfunctions in an ASD mouse model leads to misperception of the external sensory world.

Assessing experience-dependent visual responses as biomarkers of genetically defined autism spectrum disorders

Using identical visual stimulation protocols in mice and children — both typically developing and those possessing homologous ASD-associated genetic mutations — Mark Bear and Charles Nelson aim to identify behavioral and neurophysiological biomarkers that could accelerate diagnosis and elucidate new therapeutic targets for ASD.