Research Highlights

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

Shared alterations in gene expression networks mirror genetic risk across neuropsychiatric disorders In comparing gene expression profiles and SNP risk across psychiatric disorders, Michael Gandal, Daniel Geschwind and colleagues found that shared genetic risk manifests in alterations in gene networks.

Alterations in cellular pH gradients cause defects in neuronal communication and autism-related behaviors in mice lacking NHE9 Using a mouse lacking brain-localized NHE9, Edwards shows that pH gradients affect neuronal communication and autism-like behaviors.

Male, but not female, 16p11.2 deletion mice show deficits in reward learning By assessing the 16p11.2 deletion autism mouse model, Ted Abel and colleagues uncover male-specific vulnerabilities in striatal signaling and reward function.

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.

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