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.
Research Highlights
Highlights of SFARI-funded papers, selected by the SFARI science team.
Using a mouse lacking brain-localized NHE9, Edwards shows that pH gradients affect neuronal communication and autism-like behaviors.
Alternations in network communication, not synaptic dysfunction, linked to behavioral alterations in fragile X syndrome Assessing network and synaptic communication in the hippocampus of behaving Fmr-1 null mice, André Fenton and colleagues showed altered network communication linked to behavioral alterations in fragile X syndrome.
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.
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.