Spontaneous mutations in parts of the genome that regulate gene EBF3 appear to contribute to autism risk.
Spectrum: Autism Research News
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
The software compares gene expression in cells derived from organoids with a reference atlas of the developing mouse brain.
A large, whole-genome sequencing study of families yields insights into ultra-rare genetic variants that contribute to autism.
Neurons in mice with an autism-linked mutation sprout extraneous protrusions, an overgrowth accompanied by above-average motor learning. Inhibiting a cell signaling pathway reverses the effect.
A transplant of inhibitory neurons during the second week of life prevents social difficulties and a brain signaling imbalance in mice missing a copy of FOXG1.
A mutation in the autism-linked gene SHANK3 changes how neurons encode information about social agency in mice.
Mosaic mutations, which affect only some of the body’s cells, play a small but meaningful role in autism. Though they are difficult to study, researchers are working to master their complexity.
Cross-species comparisons can help make sense of subtle genetic variants in people with autism and identify hundreds of new genes that may contribute to the condition.
A mouse model hints that genes linked to inflammation in some women may increase the likelihood of autism in their children.