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Spectrum: Autism Research News

Tag: common variants

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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November 2013

Medical record mining helps clarify complex diseases

by  /  6 November 2013

Researchers have mined the medical records of more than 100 million people and found close to 3,000 associations between single-gene diseases, such as cystic fibrosis, and complex genetic disorders such as autism. The results were published 26 September in Cell.

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October 2013

Slippery SNPs

by  /  29 October 2013

A new analysis strikes down a widely reported study from last year, which claimed that a panel of 237 genetic markers predicts autism.

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New sequencing technique may reveal recessive mutations

by  /  23 October 2013

A new method of genetic analysis allows researchers to identify regions that are identical on both copies of a chromosome, according to a study published 20 September in Molecular Cytogenetics.

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August 2013

Ritalin reaction

by  /  23 August 2013

Some children with autism and hyperactivity have a genetic intolerance to methylphenidate (Ritalin), the drug commonly prescribed for attention deficit hyperactivity disorder, reports a new study published 16 July in Pharmacogenomics.

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