Rare or common, inherited or spontaneous, mutations form the core of autism risk.
As 2021 comes to a close, Spectrum recaps some of the biggest trends in autism science this year: studies of sex differences, noncoding regions of the genome and points of convergence, as well as efforts to improve screening and participatory research.
Developmental delay, intellectual disability and behavioral issues are common among people who have mutations in MYT1L, a gene with strong ties to autism.
Mice missing a copy of the gene SENP1 have atypical social behavior likely due to a signaling imbalance in the retrosplenial cortex.
Many genes linked to autism are switched on in the brain’s glia, cells that help neurons develop and synapses form.
How chemical tags called methyl groups position themselves on genetic sequences may hint at some of the causes of autism.
An online database called NyuWa catalogs genetic variations among nearly 3,000 individuals and provides a comprehensive reference genome for the Han people.
Deleting a copy of the gene TBX1 depletes the fatty myelin insulation that surrounds neurons and reduces cognitive speed in mice.
Genes that appear to play a role in some birds’ ability to learn songs are frequently mutated in autistic people.
Rare variants that alter the expression of genes in the brain contribute to autism in people who also have a rare autism-linked mutation, according to a new study.
Two new methods make it possible to delete long sections of the genome, expanding the reach of CRISPR gene editing.
