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Spectrum: Autism Research News

Tag: Simons Simplex Collection

September 2021
Abstraction of human genome data with some sections circled.

Analysis ups estimate of spontaneous mutations’ role in autism

by  /  27 September 2021

Spontaneous genetic mutations contribute to autism in 30 to 39 percent of all people with the condition, and 52 to 67 percent of autistic children whose siblings do not also have the condition.

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August 2021

Mutations in the noncoding genome contribute to autism

by  /  2 August 2021

Spontaneous mutations in parts of the genome that regulate gene EBF3 appear to contribute to autism risk.

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July 2021
Brain composed of legos with various legos scattered around

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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researchers analyzing a big change in a DNA helix

Evolutionary approach reveals impact of missense variants in autism

by  /  7 July 2021

Cross-species comparisons can help make sense of subtle genetic variants in people with autism and identify hundreds of new genes that may contribute to the condition.

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December 2020
Cells transporting NCKAP1 protein in and out of nucleus

Rare variants tied to neuronal migration, autism traits

by  /  4 December 2020

Many people with mutations in the NCKAP1 gene have autism or autism traits, according to a new study spanning seven countries.

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October 2020

Reactions from ASHG 2020

by  /  30 October 2020

Get the inside scoop from the 2020 American Society of Human Genetics annual meeting.

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September 2020
Illustration shows two long rows of vials with genetic information inside, the shadows they cast are in the shape of humans.

How scientists secure the data driving autism research

by  /  30 September 2020

Protecting the privacy of autistic people and their families faces new challenges in the era of big data.

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May 2020

Rare mutations in autism genes tied to intellectual disability

by  /  22 May 2020

A new study highlights the challenge of distinguishing genetic variants linked to autism from those associated with cognitive development.

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October 2019
DNA

Rapid assay flags autism mutations in regions that flank genes

by  /  21 October 2019

Researchers have identified mutations within regulatory regions that are likely to contribute to autism, using a speedy system of DNA ‘barcodes.’

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May 2019
A mother taking her two children to school

Genetic background may alter effect of autism mutations

by  /  4 May 2019

A person’s genetic makeup can ease or worsen the effect of mutations linked to autism.

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