Autism may involve different levels of RNA isoforms encoded by genes in the brain, which express many more proteins than previously thought.
Spectrum: Autism Research News
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.
An online database called NyuWa catalogs genetic variations among nearly 3,000 individuals and provides a comprehensive reference genome for the Han 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.
Autism involves mutations in noncoding portions of the genome in at least 3 percent of people with the condition. The mutations occur in regions that help regulate known autism-linked genes.
The X chromosome holds stronger-than-expected genetic sway over the structure of several brain regions. The genes that may underlie this oversized influence have ties to autism.
As treatments for some autism-linked genetic conditions inch closer to the clinic, researchers are talking more urgently about screening all newborns for such conditions.
A large, whole-genome sequencing study of families yields insights into ultra-rare genetic variants that contribute to autism.
The largest-yet study of genetic data from autistic people has identified 255 genes associated with the condition.