Highlights of SFARI-funded papers, selected by the SFARI science team.
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.
A study from Matthew Anderson and colleagues identified an excess of T-lymphocytes in the postmortem ASD brain, which are prominently associated with astrocytes.
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 signaling in the brain.
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 cotransporter.
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.
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.
Matthew Goodwin, Matthew Siegel and colleagues found that data from a wearable biosensor can be used to accurately predict aggressive behavior up to one minute before it occurs.
Alessandro Gozzi and colleagues found that Shank3-deficient mice have disrupted frontocortical functional connectivity, which is associated with impaired communication and social behaviors.