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Spectrum: Autism Research News

Tag: copy number variation

January 2012

Genetics: Large variants linked to intellectual disability

by  /  10 January 2012

Intellectual disability is more likely to be associated with multiple, large or non-inherited duplications and deletions of DNA than is autism, according to a study published 7 November in PLoS Genetics.

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Funding fears prevent researchers from sharing their mice

by  /  9 January 2012

Despite funders’ requirements to share mouse models after publication, many researchers hoard the animals for the good of their labs — and that could have an adverse effect on the field as a whole.

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December 2011

The year in review

by  /  23 December 2011

The ten notable papers picked by SFARI staff describe superb contributions that span the breadth of autism research from molecules to behavior. But we recognize that ten other articles might have been selected without loss of enthusiasm or excitement.

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Genetics: Focus on 2q23.1 region reveals autism candidate gene

by  /  23 December 2011

MBD5, one of 20 genes located in the 2q23.1 chromosomal region, may be responsible for the autism-like syndrome caused by deletions in the region, according to a study published 7 October in the American Journal of Human Genetics.

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Genetics: Family pedigrees suggest autism gene candidates

by  /  14 December 2011

Researchers have identified 12 duplications or deletions of DNA regions that are transmitted along with autism in families with a history of the disorder. The results were published 7 October in PLoS One.

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Genomic liability

by  /  9 December 2011

The rise of whole-genome sequencing is likely to result in a deluge of lawsuits against doctors for misinterpreting disease risks, two lawyers caution in an essay in Slate.

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Eric Kandel: The way forward for autism research

by ,  /  6 December 2011

Studying the cellular and molecular mechanisms that underlie autism is crucial to advancing our understanding of the disorder, says neuroscientist Eric Kandel.

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Genetics: Small DNA region implicated in autism

by  /  6 December 2011

Duplication or deletion of four genes within a large chromosomal region linked to Angelman syndrome and autism could lead to developmental disability or language delay, according to a study published in the October issue of Human Genetics.

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November 2011

Wholesale genomes

by  /  22 November 2011

In October, the autism science and advocacy organization Autism Speaks announced its plans to sequence whole genomes of 10,000 children with the disorder and their family members over the next two years.

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Fruit flies pin down autism candidates

by  /  17 November 2011

Looking at flies that express elevated levels of UBE3A, a gene that is duplicated in some people with autism, researchers have identified 81 proteins that may be linked to the disorder, according to unpublished results presented Tuesday at the 2011 Society for Neuroscience annual meeting in Washington, D.C.

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