Research Highlights

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

Two studies highlight the utility of carrier-derived iPSC-derived neurons for the study of neurodevelopmental disorders Lauren Weiss and Erik Ullian report on two studies using carrier-derived iPSC neurons to elucidate cellular phenotypes associated with 16p11.2 CNVs and a BRAF RASopathy mutation.

Genomic patterns of de novo mutation in simplex autism Evan Eichler and Robert Darnell provide deep whole genome sequencing of 516 families with idiopathic autism, providing insights into the complex etiology of simplex autism.

Gating of social reward by oxytocin in the ventral tegmental area Robert Malenka and colleagues find that oxytocin acts within the ventral tegmental area to increase dopamine reward neurons to reinforce the rewarding aspects of social interactions in mice.

Maternal gut bacteria provide a link between maternal infection and autism risk Jun Huh, Gloria Choi and colleagues provide a link between maternal infection, gut bacteria and the risk of developing behavioral and cortical abnormalities in mice.

Epigenetic mechanisms beyond imprinting are widespread in the mammalian brain Christopher Gregg and colleagues demonstrate that diverse epigenetic mechanisms affect allele-specific gene expression in the mammalian brain.

SCN2A variants result in opposite effects on sodium channel function in autism and infantile seizures Kevin Bender and Stephan Sanders show that ASD-associated SCN2A variants lead to impaired NaV1.2 channel activity and reduced neuronal excitability.

Identification of an amygdala circuit involved in social learning Amiel Rosenkranz and colleagues have identified a specific intra-amygdala circuit, from the lateral nucleus to the medial nucleus, which is critical for social learning.

Gene-gene interactions contribute to autism Lauren Weiss and colleagues used a reverse pathway genetic approach, focused on the RAS/MAPK pathway, to show that gene-gene interactions contribute to autism.

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