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Spectrum: Autism Research News

Tag: rare variants

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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New autism gene plays key role in cholesterol synthesis

by  /  8 November 2013

Mutations in a gene that plays a role in producing cholesterol in the body increase the risk for autism, suggesting therapies for some people with the disorder, according to research presented in a poster Tuesday at the Autism Consortium’s 2013 Research Symposium.

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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

Small deletions, duplications of DNA may up autism risk

by  /  17 October 2013

Two new studies have found more small deletions and duplications of DNA in individuals with autism than in unaffected controls. These variants may also affect the severity of the disorder.

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September 2013

Genetics: Recessive mutations may contribute to autism

by  /  3 September 2013

The genomes of people who have both autism and intellectual disability have more regions that may harbor recessive mutations than those of their unaffected siblings, according to a study published 11 July in the American Journal of Human Genetics.

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August 2013

Whole-genome sequencing unearths new autism mutations

by  /  1 August 2013

The first sizable study to use whole-genome sequencing to investigate autism has shown its mettle, revealing new mutations and candidate genes for the disorder, according to a report published 11 July in the American Journal of Human Genetics.

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