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Spectrum: Autism Research News

Tag: rare variants

June 2012

Genetics: 2q21.1 variations link autism, attention deficit

by  /  8 June 2012

Researchers have found deletions and duplications of a small piece of chromosome 2 in individuals with autism, developmental delay, epilepsy or attention deficit hyperactivity disorder.

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May 2012
3d Chromosome with DNA visible inside

Genetics: Search for recessive mutations reveals autism genes

by  /  30 May 2012

By screening for recessive mutations, which are present in both copies of a gene, researchers have identified four autism candidates that may be involved in neuronal signaling, according to a study published 12 April in PLoS Genetics.

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Rinse and repeat

by  /  22 May 2012

Researchers typically use only one ‘cohort,’ a group of about three dozen mice, for a given set of experiments. When others repeat the experiments with a different set of animals, sometimes the results hold up, and sometimes they don’t.

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April 2012

Large sequencing study ties autism genes to fragile X

by  /  26 April 2012

Children with autism carry twice as many new and damaging genetic mutations as typically developing children, according to a new study published in Neuron. The researchers also identified intriguing genetic links between autism and fragile X syndrome.

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Why oh Y

by  /  24 April 2012

New research on children with extra sex chromosomes points to the Y chromosome’s role in autism.

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Genetics: Rare, common autism variants may function together

by  /  3 April 2012

Researchers have mapped networks of genes expressed at the same time and place in the brain and shown that rare and common autism-linked mutations are likely to function in the same pathways. The results were published 8 March in PLoS Genetics.

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February 2012

Genetics: Autism, Tourette syndrome genes overlap

by  /  15 February 2012

Genes implicated in Tourette syndrome overlap with those involved in autism, according to an analysis of rare DNA duplications and deletions in people with the syndrome, published in the March issue of Biological Psychiatry.

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SHANK2 study bolsters ‘multi-hit’ gene model of autism

by  /  13 February 2012

By screening the genomes of hundreds of people with autism and analyzing the effects of newly identified mutations in cultured neurons, researchers have clarified the disorder’s link to the SHANK2 gene.

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Genetics: X chromosome disorder linked to autism

by  /  7 February 2012

Duplication of a region on the X chromosome leads to a genetic disorder characterized by severe autism, according to a study published 25 November in Annals of Neurology.

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January 2012

Risky business

by  /  24 January 2012

The genome-wide association study has been the favorite whipping post among some geneticists, but three new reviews come to its defense.

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