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Genes

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

April 2020
News / Toolbox

New atlas maps gene expression throughout the brain

by  /  22 April 2020

A comprehensive atlas of gene expression by brain region could spur new research on autism.

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Microscopic view of neurons
News

Mutations in autism gene linked to distinct conditions

by  /  3 April 2020

Individuals with mutations in an autism gene called TRIO may have a range of conditions, including intellectual disability and anomalous head size.

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March 2020
Close-up of mouse face and whiskers.
News

Sensory sensitivity in autistic people may stem from subset of neurons

by  /  27 March 2020

Mice missing an autism gene called SHANK3 tend to be hypersensitive to touch, which may stem from underactivity of neurons that normally dampen sensory responses.

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Portrait of Elise Robinson in her sunroom surrounded by plants
News / Profiles

Elise Robinson: Untangling the roots of cause and effect

by  /  19 March 2020

Even as a small child, geneticist Elise Robinson wondered why people think the way they do. Today, that question informs much of her autism research.

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MRI scans of a child's brain with DDX3X mutation
News

Newly identified mutations clarify gene’s link to autism, intellectual disability

by  /  12 March 2020

Researchers have cataloged more than 100 mutations in DDX3X, a candidate gene for autism.

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Brain scans showing differences between those with TBR1 mutations and controls.
News

Mutations in top autism gene linked to changes in brain structure

by  /  4 March 2020

People with mutations in a gene called TBR1 have unusual features in several brain regions, along with autism traits and developmental delay.

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microscopic views of proteins
News

Alzheimer’s protein turns up as potential target for autism treatments

by  /  2 March 2020

Lowering the levels of a protein called tau, best known for its involvement in Alzheimer’s disease, improves behavior in two mouse models of autism.

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February 2020
Toddler is balancing with help from mom
News

Little-known gene tied to autism, developmental delay

by  /  28 February 2020

Rare mutations in a gene called BAZ2B are associated with various conditions of brain development, including autism.

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News

Large mutations may explain diverse outcomes from autism gene

by  /  24 February 2020

Deletions and duplications of long stretches of DNA may increase the likelihood of autism in people who have a mutation in a gene called PTEN.

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a pattern shows a helix-like form repeating in yellow on dark background.
News / Toolbox

Machine learning flags ‘mosaic’ mutations that may contribute to autism

by  /  19 February 2020

A new technique detects rare mutations that occur in only a subset of the body’s cells.

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