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Spectrum: Autism Research News

Tag: copy number variation

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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May 2021

Q&A with Sébastien Jacquemont and Clara Moreau: Why brain imaging signatures for autism are so elusive

by  /  20 May 2021

The field of neuroimaging will need to combine two strategies before it can find patterns of brain activity or structure unique to autism, the researchers say.

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Chart compiling the deletions and duplications linked to various neurodevelopmental traits.

Massive analysis scores genes’ sensitivity to mutations

by  /  5 May 2021

Researchers have rated more than 17,000 genes, including many linked to autism and other neuropsychiatric conditions, according to their sensitivity to deletions and duplications.

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February 2021
Heatmap plot showing how each genetic variant plus autism group differed.

Copy number variations linked to autism have diverse but overlapping effects

by  /  1 February 2021

People with mutations in distant chromosomal regions often share a range of autism traits, even if they do not meet the diagnostic threshold for autism.

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January 2021

How polygenic scores can improve predictions about autism, schizophrenia

by  /  19 January 2021

Jacob Vorstman wants to help people who have rare mutations tied to autism, schizophrenia and other neurodevelopmental conditions set expectations about outcomes.

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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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December 2020
Brain images color-coded to show structural changes in autism.

Gene expression maps reveal origins of brain changes from autism mutations

by  /  4 December 2020

A new study pinpoints the genes and cell types that may underlie the atypical brain structure seen in people with genetic conditions linked to autism.

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