Children with autism carry twice as many new and damaging genetic mutations as typically developing children, according to a new study published in Neuron. The researchers also identified intriguing genetic links between autism and fragile X syndrome.
Parents searching for a genetic diagnosis for their child with autism now have a new option: a test that analyzes 62 different genes linked to syndromic autism, meaning cases of the disorder caused by mutation of a single gene.
The largest set of exome sequencing studies of children with autism and their families to date has identified a handful of genes that may increase risk of the disorder, according to research published in Nature.
Researchers have developed a tool that can predict whether DNA mutations that change a single base pair are likely to alter RNA splicing, a process that modifies the sequence of mRNA, the genetic message that codes for protein. The results were published 10 February in Bioinformatics.
A survey asks clinical geneticists what type of incidental findings should be returned to people who have their genomes sequenced.
A certain type of bacteria is prevalent in the intestines of children who have both autism and gastrointestinal (GI) symptoms but absent in controls, according to a study published 10 January in mBio.
Researchers have generated and sequenced almost 200 different strains of fruit flies, a widely used model organism, according to a study published 8 February in Nature. The resource they created, called the Drosophila Genetic Reference Panel, will enable researchers to link genetic variants with aspects of fly biology and behavior.
The characteristics, interactions and roles of autism-associated genes in the fruit flies’ brain will help guide how we think about the same genes in humans, says Ralph Greenspan.
More than 250 genes in the human genome — about one percent of our genes — can be eliminated without serious health effects, according to research published last week in Science.