Tag: de novo mutations

May 2019
Computational Modeling of BRSK2 Missense Variants
News

Matchmaking site for genes leads scientists to autism candidate

by  /  6 May 2019

A website called GeneMatcher has helped researchers identify a new gene for intellectual disability, developmental delay and autism.

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A DNA helix showing common and rare variants
News

The multiple hits theory of autism, explained

by  /  1 May 2019

Researchers are studying how a combination of genetic ‘hits’ may contribute to autism’s diversity.

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April 2019
Hands on background of microarray and other genetic information
News

Genetic testing for autism, explained

by  /  10 April 2019

No genetic test can say whether a person has autism, but it may point to a cause for the condition or for any related complications.

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March 2019
News / Toolbox

New maps plot hot spots of diversity across human genome

by  /  29 March 2019

A pair of maps that depict variation in the human genome may help reveal the genetic roots of autism.

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February 2019
Portrait of Ivan Iossifov
Multimedia / Webinars

Webinar: Ivan Iossifov discusses genetic variants linked to autism traits

27 February 2019

Watch the complete replay of Ivan Iossifov discussing the genetic basis of autism’s features.

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January 2019
illustration shows woman under umbrella, with genes falling like rain
Opinion / Viewpoint

Expliquer la résilience à l’autisme peut faire naître de nouvelles thérapies

by  /  18 January 2019

A social website called GeneMatcher has helped researchers identify a new gene for intellectual disability, developmental delay and, possibly, autism. Of the nine children they found with a mutation in the gene, BRSK2, seven have an autism diagnosis1. BRSK2 encodes an enzyme that helps neurons grow projections called axons. The new work is the first […]

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December 2018
News

Massive analysis refines map of autism’s genetic roots

by  /  19 December 2018

The largest genetic analysis of postmortem brain tissue to date has yielded maps of when and where genes related to autism are turned on and off throughout life.

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News

Analysis spotlights mutations in ‘dark’ regions of the genome

by  /  14 December 2018

Whole-genome scans of nearly 8,000 people link autism to spontaneous mutations in the stretches of DNA that regulate genes.

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microsopy of human sperm
News

Study suggests Rett syndrome doesn’t always arise spontaneously

by  /  13 December 2018

Nearly one in four men who have a daughter with Rett syndrome carry mutations linked to the condition in some of their sperm.

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Microscopic view of spermatozoa
News

Some autism mutations go undetected, new study suggests

by  /  5 December 2018

Some mutations that contribute to autism and arise spontaneously may be mistaken for inherited mutations.

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