Ofer Yizhar and colleagues described the altered dynamics of social representation in neurons of the medial prefrontal cortex of Cntnap2-null mice, a model of autism spectrum disorder.
Research Highlights
Highlights of SFARI-funded papers, selected by the SFARI science team.
Joseph Gleeson and colleagues used deep whole-genome sequencing and genotyping of sperm DNA to stratify ASD risk in offspring due to de novo mutation.
Neuroimmune mechanisms in autism mouse models Gloria Choi, Jun Huh and colleagues showed that postnatal administration of IL-17a can rescue some of the anatomical and behavioral deficits observed in a maternal immune activation (MIA) mouse model of autism spectrum disorder.
Noise hypersensitivity in PTCHD1-associated ASD Michael Halassa, Guoping Feng and colleagues identified a combinatorial strategy to reverse noise hypersensitivity in Ptchd1 knockout mice, while Stephen Scherer, James Ellis and colleagues separately explored the genetic and functional complexity of PTCHD1 in humans.
Autism spectrum disorder and attention deficit hyperactivity disorder have a similar profile of rare mutations Mark Daly and colleagues used an exome sequencing data set of ASD and ADHD to identify a similar profile of rare protein-truncating variants in each disorder.
T-lymphocytes target astrocytes in the postmortem autism brain A study from Matthew Anderson and colleagues identified an excess of T-lymphocytes in the postmortem ASD brain, which are prominently associated with astrocytes.
Binocular rivalry: A noninvasive biomarker of inhibitory signaling in the brain? Caroline Robertson and colleagues developed a novel paradigm that provided direct neural evidence for slower binocular rivalry in autism. They also demonstrated a causal link between GABAergic inhibition and rivalry in neurotypical individuals, suggesting that this tool may serve as a noninvasive marker of inhibitory…
Modulating the expression and activity of the potassium-chloride cotransporter KCC2 Three recent studies – two by Kristopher Kahle and Igor Medina, and the third by Xin Tang, Mriganka Sur and Rudolf Jaenisch – explored regulatory mechanisms that modulate KCC2 function during development as well as ways to potentially therapeutically enhance the expression of this chloride…
Allelic imbalance in ASD-associated gene expression Daniel Geschwind, Michael Gandal and colleagues reported that allelic imbalance in gene expression in ASD shows a surprising preference for the minor allele and implicates a family of snoRNAs at 15q11-13.
Targeting somatosensory over-reactivity in mouse models of ASD David Ginty and colleagues have identified mechanisms through which peripheral loss of ASD-associated genes affect behaviors in mice and identify a potential peripherally restricted therapy to treat tactile over-reactivity and select ASD-related behaviors.