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Spectrum: Autism Research News

Tag: rare variants

October 2014

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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September 2014

Sensitive sequencing methods pinpoint mosaic mutations

by  /  8 September 2014

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.

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June 2014

What constitutes ‘environmental’ risk for autism?

by  /  11 June 2014

If inherited risk for autism is 50 percent, does that make the remaining half of risk environmental? Scientists clarify a large population study.

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Large study underscores role of gene copy number in autism

by  /  2 June 2014

People with autism tend to carry mutations that duplicate or delete several genes at once, according to a large study published 1 May in the American Journal of Human Genetics.

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April 2014

Genetics: New autism mutations affect DNA packaging

by  /  8 April 2014

Mutations in a gene associated with DNA packaging may lead to autism and intellectual disability, suggests a study published 16 February in Nature Genetics.

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March 2014

Joseph Gleeson on finding treatable forms of autism

 /  26 March 2014

Watch the complete replay of Joseph Gleeson explaining how DNA sequencing can help find treatments, including dietary supplements, for rare types of autism.

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January 2014

Spontaneous and rare mutations are key in schizophrenia

by  /  30 January 2014

Spontaneous and rare mutations, particularly in genes related to networks that regulate neuronal connections, contribute a small but significant proportion of the risk for schizophrenia, report two large studies published online 22 January in Nature.

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November 2013

Genetics: Brain development pathway linked to autism

by  /  26 November 2013

Individuals with autism may carry genetic variants in a pathway important for brain development, according to a study published in September in Translational Psychiatry.

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Genetics: Spontaneous mutation links dopamine to autism

by  /  12 November 2013

A newly discovered spontaneous mutation, described 27 August in Molecular Psychiatry, links autism to changes in the regulation of the chemical messenger dopamine.

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Genetic analysis links autism to missing brain structure

by  /  11 November 2013

The largest genetic analysis yet conducted of people lacking a brain structure called the corpus callosum shows that the condition shares many risk factors with autism. The study was published 3 October in PLoS Genetics. 

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