Unlocking the mitochondrial genome for autism research
The DNA specific to mitochondria is difficult to access, but new methods place its secrets within reach.
The DNA specific to mitochondria is difficult to access, but new methods place its secrets within reach.
Scientists have at last filled in the missing gaps — an advance likely to inform every aspect of autism genetics research, Eichler says.
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.
Common and rare variants in or near autism-associated genes can have opposite effects on cognition.
Spontaneous genetic mutations contribute to autism in 30 to 39 percent of all people with the condition, and 52 to 67 percent of autistic children whose siblings do not also have the condition.
An advanced DNA-sequencing technique has identified gene-damaging mutations, some with ties to autism, in about 1 in 15 men.
Spontaneous mutations in parts of the genome that regulate gene EBF3 appear to contribute to autism risk.
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.