Less than one-third of sibling pairs with autism who carry rare mutations in autism-linked genes share those mutations, according to the largest study yet to sequence whole genomes of people with the disorder. The study questions the assumption that autism’s risk factors run in families, but some experts are skeptical.
This year was full of big headlines in autism research. But the biggest stories aren’t necessarily the best — here are some gems you may have missed over the year.
A new computational approach predicts how sequence variations in both the coding and noncoding regions of a gene affect the gene’s expression. The method, described today in Science, may help researchers understand how specific variants contribute to disorders such as autism.
Getting to a diagnosis of autism or another neurodevelopmental disorder is a long and frustrating experience for some families — especially when it comes to finding the underlying genetic cause. DNA sequencing could ease this arduous journey.
Each child with autism is different from the next. One approach rapidly gaining momentum makes sense of this diversity by grouping children together based on their genetics, then looking for patterns in their symptoms. The long-term aim: personalized treatments for each subtype of autism.
Experimental drugs can reverse the effects of some autism-linked mutations in the dopamine transporter, a protein that shuttles the chemical messenger dopamine into neurons. Researchers presented the unpublished findings in five posters yesterday at the 2014 Society for Neuroscience annual meeting in Washington, D.C.
Stephan Sanders has quickly climbed the ranks in autism research. At 35, he’s already credited with bringing a measure of clarity to autism genetics. And that’s just one feat in a long and accomplished resume.
Hundreds of genes are linked to autism, but most have not been clearly characterized. ADNP is one of a small group of genes that, when mutated, seem to lead to autism in a substantial proportion of cases.
On 1 October, Mark Daly discussed new insights into autism from common and rare genetic variants. (Due to technical issues, the video replay for this webinar is unavailable.)
Advanced sequencing methods can detect spontaneous genetic changes that show up in only a small subset of a person’s cells, suggest two new studies published in August. Despite their low prevalence in the body, these so-called ‘somatic mosaic mutations’ occur frequently in people and may be important contributors to brain disorders.