Stelios Smirnakis and Huda Zoghbi observed an increase in the formation and stabilization of dendritic spine clusters in the cortex of MECP2 duplication syndrome mice.
Research Highlights
Highlights of SFARI-funded papers, selected by the SFARI science team.
Evan Eichler and colleagues used targeted sequencing in large neurodevelopmental cohorts, including SPARK, to identify new risk genes and relate genotype to phenotypic presentation.
Sensory habituation is reduced in autism
Pawan Sinha and colleagues found that sensory habituation is reduced in autism, and furthermore, that this reduction correlates with behavioral assessments of social communication and sensory difficulties.
Impaired long-range communication and reduced anxiety-related behavior in Pogz deficient mice
Vikaas Sohal and John Rubenstein found that Pogz heterozygous mice exhibited reduced anxiety-related avoidance behavior and that this correlated with impaired communication between the ventral hippocampus and medial prefrontal cortex.
Pupil responses predict reward sensitivity and autism status
Vanessa Troiani and colleagues demonstrated a linear relationship between pupil dilation, reward/punishment sensitivity and individual ASD diagnostic status.
Cellular system to screen ASD risk gene function
Robi Mitra and colleagues have developed a scalable CRISPR/Cas9 RNA sequencing assay in a human neuronal differentiation cell model, enabling high-throughput assessments of how repression of ASD risk genes affects transcription and neuronal differentiation.
Mitochondrial deficiency and fragile X syndrome
Elizabeth Jonas and colleagues identified a molecular mechanism underlying the contributions of mitochondrial dysfunction to the synaptic and behavioral features associated with fragile X syndrome.
Neural circuitry of sociability in mice
Hirofumi Morishita and colleagues showed that juvenile social isolation leads to deficits in adult mouse sociability via reduced activation of a prefrontal-paraventricular thalamus circuit.
Sex differential effects of excitation-inhibition imbalance in autism
Stefano Panzeri and colleagues used neuroimaging-derived measures to assess the sex differential impact of excitation/inhibition imbalance in idiopathic ASD.
ASD risk genes and homeostatic plasticity
Graeme Davis and colleagues showed that ASD risk genes genetically interact with a class of common modifiers of presynaptic homeostatic plasticity at the Drosophila neuromuscular junction.
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