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Spectrum: Autism Research News

Tag: common variants

October 2015

In search of factors that shield girls against autism

by  /  19 October 2015

Identifying the factors that protect girls from autism may help us understand and possibly treat the disorder.

3 Comments
September 2015

Large genome scan turns up new autism addresses

by  /  29 September 2015

An analysis of blood samples from nearly 17,000 individuals with autism points to new regions of the genome likely to be involved in the disorder.

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August 2015

Control centers for genes rife with autism-linked DNA blips

by  /  3 August 2015

DNA sequences called enhancers — which boost the expression of genes from within or outside them — are enriched for genetic variants linked to autism, suggests a new study. The finding may help researchers understand how variants outside genes contribute to autism.

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February 2015

Study downgrades autism gene’s effects to rare glitches

by  /  16 February 2015

After eight years of prominence as an autism risk gene, a new analysis significantly brings down CNTNAP2’s importance in the disorder: According to the study, rare mutations in a single copy of the gene are unlikely to cause autism. 

11 Comments
January 2015

‘Tooth Fairy’ works magic to unearth new autism genes

by  /  12 January 2015

By analyzing stem cells derived from baby teeth, researchers have tracked a child’s autism to mutations in a gene called TRPC6. The molecular saga highlights a painless way to probe the role some genes play in autism.

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December 2014

Method predicts impact of DNA variants on gene expression

by  /  18 December 2014

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.

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November 2014

Rare mutations linked to severity of autism symptoms

by  /  3 November 2014

Boys with autism who carry rare, spontaneous mutations have lower intelligence quotients and more severe symptoms than do those who may have inherited the disorder. The finding, published 21 October in the Proceedings of the National Academy of Sciences, hints at two classes of autism risk with varying severity.

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October 2014

Massive sequencing database helps interpret mutations’ role

by  /  23 October 2014

Researchers have analyzed more than 90,000 exomes — the protein-coding regions of the genome — the largest such set yet, they announced Monday at the American Society of Human Genetics Annual Meeting in San Diego. The resource gives scientists an invaluable tool to probe the significance of specific mutations.

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Mark Daly maps the genetic architecture of autism

 /  1 October 2014

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.)

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June 2014

Great sequencing power — great responsibility

by ,  /  6 June 2014

Chris Gunter and Daniel MacArthur discuss guidelines for assessing the evidence that a genetic variant causes autism or another disorder.

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