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Spectrum: Autism Research News

Tag: copy number variation

April 2019
DNA

Repeats of certain DNA segments may align with autism severity

by  /  3 April 2019

Certain repeated stretches of DNA that are linked to the expansion of the primate brain may also enhance autism traits.

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March 2019

Spectrum Stories: The benefits of genetic testing in autism

by  /  18 March 2019

Finding a mutation linked to autism traits can have life-changing consequences for autistic individuals and their families.

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Deletion, duplication of chromosome 16 segment may confer same autism risk

by  /  6 March 2019

Autism may be just as common among children missing a segment of chromosome 16 as it is in those with an extra copy.

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February 2019

Analysis pinpoints genes linked to autism, developmental delay

by  /  6 February 2019

An analysis of spontaneous mutations in nearly 11,000 individuals with developmental delay or autism implicates 49 new genes.

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January 2019
Portrait of boy with autism

Why genetic tests matter for autistic people

by  /  30 January 2019

Genetic tests for people with autism are far from routine and don’t always yield results, but the information they offer can change lives.

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November 2018
Toddle boy having his head measured in a medical setting.

Brain organoid study firmly links autism mutations to RhoA

by  /  7 November 2018

A cellular pathway that helps neurons grow and move during fetal development may drive the changes in head size in some autistic people.

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October 2018
Brain cells under magnification glow red, purple and blue.

Mini-brains may pin down key genes in large mutations

by  /  22 October 2018

Clusters of brain cells — so-called ‘mini-brains’ grown in the lab — may help researchers understand how large stretches of duplicated or deleted DNA affect the brain.

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A digital drawing shows two groups of people forming large arrows, see from above.

Mutation types tied to autism converge on shared set of genes

by  /  18 October 2018

Genes linked to autism in sequencing studies tend be located in long stretches of DNA that are duplicated or missing in some people with developmental conditions.

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Modifier genes may enhance or diminish the effects of a mutation linked to autism.

Second ‘hits’ may explain autism mutations’ varied effects

by  /  5 October 2018

People who have a mutation linked to autism plus a second genetic glitch tend to have more severe symptoms than those with the mutation alone.

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August 2018
Microscopic images from the eye of a fly.

Mutant flies reveal key gene interactions within autism deletion

by  /  20 August 2018

The absence of several interacting genes may underlie the developmental problems seen in people missing a segment of chromosome 16.

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