Autism spectrum disorders (ASDs) are highly heterogeneous neurodevelopmental conditions. Beate St Pourcain aims to disentangle autism heterogeneity by identifying shared and unique genetic factors among co-occurring ASD symptoms.

Anis Contractor will assess how the development of synapses and circuits in the striatum are disrupted in a novel mouse model of autism that harbors a gain-of-function mutation in the voltage-gated calcium channel Cav1.3 in order to gain an understanding of how this mutation contributes to autism risk.

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.

Denis Jabaudon aims to trace abnormal developmental trajectories of neocortical progenitors and their progeny in a 22q11.2 deletion syndrome mouse model in order to identify potential developmental hot spots amendable to therapeutic interventions for ASD.

Yoram Bonneh will investigate basic cognitive skills related to receptive language and reading in minimally verbal individuals with autism spectrum disorder via the analysis of involuntary eye movements in response to pictures, text and sound. These studies are intended to test the hypothesis that core action-control deficits for voluntary or intentional behavior may result in a significant gap between the observed and actual cognitive abilities in such individuals.

Using new magnetic resonance imaging techniques and analysis approaches to identify focal cortical dysplasias (FCDs), Ruth Carper aims to determine whether FCDs occur more frequently in individuals with ASDs than is currently appreciated and to understand what effects FCDs have on cognition and behavior in ASD.

Geoffrey Goodhill will address how the early development of neural sensory circuits is altered in autism spectrum disorders, using a zebrafish model of fragile X syndrome to examine alterations in the developmental patterns of neural activity and their relationship to changes in visually driven behaviors.

Mark Zylka will test the hypothesis that exposure to environmental risk factors for ASD amplifies the effects of genetic risk factors, by assessing the effects of prenatal exposure to a pyrethroid pesticide in a genetic mouse model of ASD (Chd8+/- mice). The results of this research could identify an avoidable environmental risk for a common genetic subtype of autism.

Using a mouse model of fragile X syndrome, Hye Young Lee aims to understand the molecular mechanisms by which FMRP causes microglia dysfunction and to elucidate the effects of Fmr1 mutations on microglia-neuron communication under basal conditions as well as after neuroinflammation.

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.