Research Highlights

Highlights of SFARI-funded papers, selected by the SFARI science team.

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 cotransporter.

November 25, 2019

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.

November 18, 2019

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.

Predicting aggression with wearable biosensors 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.

Aberrant neocortical connectivity in Shank3 mutant mice Alessandro Gozzi and colleagues found that Shank3-deficient mice have disrupted frontocortical functional connectivity, which is associated with impaired communication and social behaviors.

Unexpected synaptic role for the autism risk gene Scn2a Kevin Bender, Stephan Sanders and colleagues show that there is an unexpectedly critical role for the autism risk gene Scn2a, which encodes the sodium channel NaV1.2, in postnatal dendritic excitability and synaptic function in mice.

A pipeline for functional assessment of autism-associated missense mutations in C. elegans Paul Sternberg and colleagues establish an initial pipeline in C. elegans to screen autism-associated missense mutations for functional effects.

Distinct patterns of connectivity underlie differences in sensory responsiveness in autism Susan Bookheimer and colleagues show that the degree of sensory overresponsivity in individuals with autism may be driven by distinct patterns of connectivity between the prefrontal cortex and amygdala.

A mouse model of 22q11.2 deletion syndrome shows reduced long-range connectivity and dysfunctional mitochondria Anthony-Samuel LaMantia, Thomas Maynard and colleagues show that a mouse model of 22q11.2 deletion syndrome has fewer long-distance cortico-cortical connections, which is caused in part by mitochondrial dysfunction.

Two studies using SPARK’s research matching program attest to its effectiveness for rapid and large-scale testing of research questions Two studies from Brigitta Monz, Richard Houghton and colleagues provide examples of the effectiveness of SPARK’s research match program to rapidly recruit thousands of individuals for the large-scale testing of research questions.

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