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Spectrum: Autism Research News

Tag: rare variants

January 2012

New resource compiles data on autism-linked genes

by  /  18 January 2012

A new online database provides searchable information for nearly 10,000 genes, variants and chromosomal regions linked to autism. Researchers describe the resource, dubbed AutismKB, in the January issue of Nucleic Acids Research.

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Genetics: X chromosome gene linked to autism in males

by  /  18 January 2012

TBL1X, a gene located on the X chromosome, is associated with autism in males but not in females, according to a study published 3 November in Molecular Autism.

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Molecular mechanisms: DISC1 variants inhibit neurogenesis

by  /  13 January 2012

Three variants of DISC1, a gene implicated in schizophrenia and autism, may disrupt the formation of new neurons in the brain, according to a study published 17 November in Neuron.

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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

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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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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November 2011

Genetic studies probe sleep hormone’s role in autism

by  /  13 November 2011

A subset of people with autism have genetic and biochemical abnormalities in a sleep-related enzyme, according to research presented Friday at a satellite conference of the Society for Neuroscience annual meeting in Washington, D.C.

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October 2011
DNA helix with a highlighted area in pink.

Genetics: Rare mutations slightly more common in autism

by  /  5 October 2011

Duplications and deletions of genetic regions linked to autism are rare in individuals referred for genetic testing, but occur at a higher rate than in the general population.

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September 2011

Genetics: Exome study finds new autism-linked mutations

by  /  16 September 2011

Researchers have identified autism-linked mutations using a technique that can detect deletions or duplications of DNA spanning a single gene.

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