Tag: Simons Simplex Collection

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

This article is also available in anglais. Il y a quelques années la mère d’un jeune autiste m’a téléphoné. Elle venait d’apprendre que son fils, qui était dans la vingtaine, avait une délétion de SHANK3, l’un des gènes qui, d’après les découvertes de mon équipe, subit une mutation chez certaines personnes autistes. Cette nouvelle m’a […]

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September 2018
A collage of a DNA helix with two of the bars showing a different color. by Rebecca Horne
News

Control of gene expression alters impact of autism mutations

by  /  27 September 2018

Variants that control gene expression are often involved in whether a mutation ends up being harmful, and how harmful it is.

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May 2018
News

Hunt for autism variants between genes comes up empty

by  /  7 May 2018

To find variants between genes that contribute to autism, researchers may need thousands more whole genomes than they have now.

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April 2018
mutations in their mitochondrial genome
News

Mounting evidence links mitochondrial DNA to autism

by  /  5 April 2018

Genetic variants that affect mitochondria, the organelles that power cells, may increase the risk of autism.

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March 2018
Opinion / Viewpoint

Explaining ‘resilience’ in autism may seed new therapies

by  /  27 March 2018

Some individuals who have autism mutations show no signs of the condition; understanding why may lead to treatments.

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February 2018
Week of FebruaryFeb
5th
2018
News / Spotted

Political scientists; folate block; mutational mosaic and more

by  /  9 February 2018

Scientists campaign for elected office in record numbers, folate autoantibodies are common in autism families, and neurons form a genetic mosaic in the brain.

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October 2017
Mother and daughter practicing writing.
News

Rare autism mutations linked to low intelligence

by  /  20 October 2017

People with autism who have rare, damaging mutations tend to have low scores on intelligence tests.

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Two children sitting at a garage sale table.
News

Scan of whole genomes ties regulatory regions to autism risk

by  /  4 October 2017

Children with autism may have an excess of spontaneous mutations in DNA that controls the expression of autism genes.

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September 2017
News

Fever eases behavioral problems in some children with autism

by  /  18 September 2017

About 17 percent of children with autism are calmer and more communicative than usual when they have a fever.

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Illustration of DNA in cross stitch pattern
News

Sizeable fraction of autism risk traced to ‘mosaic’ mutations

by  /  14 September 2017

Mutations that appear in only some of the body’s cells contribute to autism in about 4 percent of people with the condition.

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