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Spectrum: Autism Research News

Tag: copy number variation

May 2022

Autism and the complete human genome: Q&A with Evan Eichler

by  /  10 May 2022

Scientists have at last filled in the missing gaps — an advance likely to inform every aspect of autism genetics research, Eichler says.

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January 2022
Overhead view of crowd of people walking in Copenhagen city square.

Population study downgrades some copy number variants’ impact on autism

by  /  28 January 2022

Some copy number variants may boost a person’s chances of having autism, but to a lesser extent than previously thought.

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December 2021

Myelin loss may explain how autism-linked DNA deletion affects cognition

by  /  8 December 2021

Deleting a copy of the gene TBX1 depletes the fatty myelin insulation that surrounds neurons and reduces cognitive speed in mice.

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November 2021

New gene-editing tools delete long stretches of DNA

by  /  17 November 2021

Two new methods make it possible to delete long sections of the genome, expanding the reach of CRISPR gene editing.

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October 2021
Multicolored diagram comparing genetic burdens amongst non-autistic people, autistic people who carry specific rare mutations and autistic people who lack such mutations.

Rare mutations prevalent among autistic people

by  /  29 October 2021

A quarter of autistic people carry rare genetic variations linked to autism and other neurodevelopmental conditions, but these mutations alone may not be enough to lead to autism.

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Simple flat color DNA helix in two tones of blue.

Autism-linked genetic variants increase, decrease intelligence

by  /  19 October 2021

Common and rare variants in or near autism-associated genes can have opposite effects on cognition.

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September 2021
neurons in organoids

Protein inhibitor normalizes neuronal migration in organoid model of autism

by  /  1 September 2021

Inhibiting a protein that helps cells move or change shape prevents atypical neuronal migration in 3D clusters of brain cells carrying autism-linked genetic variants.

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August 2021
Young patient speaking to counselor.

Q&A with Brenda Finucane: Building pipelines for genetic tests for autism

by  /  17 August 2021

Most autistic people do not receive the medically recommended genetic tests for autism. Brenda Finucane and her colleagues want to change that.

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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

Brain activity patterns may distinguish girls with autism

by  /  2 June 2021

Atypical patterns of neuronal activity and gene expression in the striatum may characterize autism in girls, according to a new study.

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