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Genes

Rare or common, inherited or spontaneous, mutations form the core of autism risk.

December 2019
Mice neurons seen in green
News

Loss of autism gene may lead to pile-up of proteins in neurons

by  /  19 December 2019

A shortage of CUL3, a leading autism gene, may impair social behavior in mice by ramping up protein production in neurons.

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variants across the genome are shown in a wheel shaped visualization
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New database catalogs variants in autism genes

by  /  13 December 2019

A new database cross-checks study participants to avoid double-counting variants linked to autism genes.

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a young girl has her height measured by a woman
News

Top autism gene tied to unusual skull, skeletal growth

by  /  12 December 2019

People with mutations in CHD8, a top autism gene, tend to be tall and have large heads.

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red blood cells
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Gene repeats tied to autism may prevent anemia

by  /  9 December 2019

Extra copies of a gene called BOLA2 predispose people to autism and may protect against iron deficiency.

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Large genome sequence in blues and purple
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Human reference genome gains global diversity

by  /  6 December 2019

A new reference genome includes sequences collected from people around the globe, plugging major gaps in the current one.

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November 2019
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Study links large set of common genes to brain structure

by  /  29 November 2019

A new analysis of nearly 40,000 people pinpoints 48 genetic variants that may determine the volume of certain brain areas.

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Mutations in emerging autism gene tied to distinct traits

by  /  27 November 2019

People who have mutations in a gene called PHF21A tend to have a constellation of traits and conditions, including autism.

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Boy staring at fidget spinner
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Risk genes for autism overlap with those for attention deficit

by  /  25 November 2019

People with attention deficit hyperactivity disorder may carry certain rare, harmful mutations in many of the same genes as people with autism.

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High-frequency sound waves locate cells in deep tissues

by  /  22 November 2019

A new technique uses ultrasound instead of light to detect gene expression in cells.

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Mouse study reveals overlooked target for autism therapies

by  /  20 November 2019

Blocking one form of an enzyme implicated in autism eases unusual behaviors and seizures in mice missing a top autism gene.

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