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Spectrum: Autism Research News

Tag: rare variants

October 2012

Thomas Bourgeron: Pioneering rare paths in autism genetics

by  /  25 October 2012

Thomas Bourgeron discovered the first rare mutation linked to non-syndromic autism, pointing to neuronal connections as prime drug targets.

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A call for open-science approaches in autism research

by  /  16 October 2012

Sharing data and tools is universally efficient, but the study of autism in particular presents challenges that can benefit from an open-science framework, says Randy Buckner.

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Common variants, en masse, may add up to strong autism risk

by  /  15 October 2012

Individually, common genetic variants confer little risk for autism. But taken together, they may contribute significantly, predicts a statistical analysis published 15 October in Molecular Autism.

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Old mice may pass on ‘epimutations’ to offspring

by  /  14 October 2012

The sperm of old mice has an unusual epigenome, the profile of chemical modifications to the underlying DNA code, according to a poster presented Saturday at the 2012 Society for Neuroscience annual meeting in New Orleans. The findings suggest an explanation for the so-called paternal age effect in autism.

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September 2012

Insights for autism from Williams syndrome

by  /  18 September 2012

Studying the well-characterized Williams syndrome could help researchers understand autism and discover new therapeutic targets, says Andreas Meyer-Lindenberg.

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August 2012

Genetics: Study finds risk gene for autism in males

by  /  31 August 2012

Mutations in AFF2, a gene located on the X chromosome, are about five times as common in men with autism as in controls, according to a study published 10 July in Human Molecular Genetics.

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Father’s age dictates rate of new mutations

by  /  23 August 2012

With every passing year, men are increasingly likely to transmit new mutations to their children, according to the largest study yet of the so-called paternal age effect, published yesterday in Nature. The findings could help explain why older men are more likely to have a child with autism or schizophrenia than are younger men, the researchers say.

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Algorithm fine-tunes analysis of rare variants

by  /  22 August 2012

A new algorithm increases the accuracy of techniques that detect rare genetic variants among populations, according to a study published 27 July in Bioinformatics.

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Scientists uncover new risk gene for autism

by  /  2 August 2012

Several lines of converging evidence suggest that low-density lipoprotein receptor-related protein 2 (LRP2), which is involved in early patterning of the brain, is a risk gene for autism.

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June 2012

Focus on function may help unravel autism’s complex genetics

by ,  /  26 June 2012

To find the pathogenic mutations in complex disorders such as autism, researchers may need to conduct sophisticated analyses of the genetic functions that are disrupted, says geneticist Aravinda Chakravarti.

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