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Spectrum: Autism Research News

Tag: mosaicism

September 2021
circuit board style lines in black and white suggest sperm approaching an egg.

Mutations linked to autism may be detectable in men’s sperm

by  /  16 September 2021

An advanced DNA-sequencing technique has identified gene-damaging mutations, some with ties to autism, in about 1 in 15 men.

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July 2021

Patchwork mutations present a new frontier for autism research

by  /  12 July 2021

Mosaic mutations, which affect only some of the body’s cells, play a small but meaningful role in autism. Though they are difficult to study, researchers are working to master their complexity.

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June 2021
lab technician pipetting in dramatic light

Alternative gene-therapy approaches take aim at Rett syndrome

by  /  16 June 2021

Methods that selectively increase levels of the Rett protein make for safer and more effective treatment strategies, some researchers say.

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February 2021
cells in a mouse brain show the mutations in green.

Molecular switch marks mosaic mutations in mice

by  /  11 February 2021

A new tool enables researchers to create mosaic mutations in only some cells and then accurately identify which cells are affected.

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January 2021
A mosaic made of different colors of maize (corn) kernels depicting DNA.

Two studies highlight role of ‘mosaic’ mutations in autism

by  /  11 January 2021

Mutations seen in only some of the body’s cells often affect gene activity in the brains of people with autism, and can involve large segments of DNA, according to two new studies.

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October 2020
Adolescent has cheek swabbed

Autism, intellectual disability linked to levels of fragile X protein

by  /  26 October 2020

People with particularly low levels of FMRP, the protein lacking in those with fragile X syndrome, are more likely to also have autism and severe intellectual disability.

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February 2020
a pattern shows a helix-like form repeating in yellow on dark background.

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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