Rare or common, inherited or spontaneous, mutations form the core of autism risk.
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.
Many of the genes strongly linked to autism are involved in the remodeling of chromatin, the complex of DNA and proteins that makes up chromosomes. Scientists are just beginning to understand why.
A mouse model hints that genes linked to inflammation in some women may increase the likelihood of autism in their children.
Neuronal axons ignore guidance cues after a mutation in the gene TSC2 disrupts signaling through RhoA, a protein regulated by many autism-linked genes.
Over the course of a career spanning more than three decades, Huda Zoghbi has won almost every major biology and neuroscience research award that exists. More than 20 years since she discovered the gene behind Rett syndrome, she remains laser focused on unlocking the condition’s secrets and finding effective treatments.
Mutations in CUL3, a leading autism gene, may disrupt the movements of neurons during development; correcting this misdirection could lead to an autism therapy.
Mice missing the autism-linked gene SHANK3 use more neurons to engage in social behavior than control mice do, reflecting a more disorganized, less efficient brain signaling network.
A new spin on the classic CRISPR gene-editing tool can alter the genome’s chemical tags and suppress gene expression for months.
The high levels of serotonin seen in the blood of some autistic people have confounded scientists for more than half a century. Despite so little progress, some researchers refuse to give up.
