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Tag: 22q11

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

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
Opinion / Q&A

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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December 2020
Micrograph of nerve cells being targeted by CRISPR enzyme to activate the silenced gene in Angelman syndrome
Features / Special Reports / Hindsight is 2020: The year in review

Hot topics in autism research, 2020

23 December 2020

The Spectrum team highlights five topics that distinguished autism research in 2020: diversity in data, gene therapies, subtyping, social circuitry and the ‘autism gene’ debate.

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Protein in brain
News

Drug helps mice with autism-linked mutation recognize others

by  /  21 December 2020

Mice that model 22q11.2 deletion syndrome lack social memory, but that trait can be reversed using a drug that targets the flow of potassium ions in neurons.

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

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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November 2020
Brain diagrams showing connectivity within different regions.
News

Gene mutations point to overlaps in brain connectivity for autism, schizophrenia

by  /  30 November 2020

People who have large mutations associated with autism and schizophrenia share atypical patterns of brain connectivity, according to a new study, especially between areas that process sensory information.

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October 2020
neurons in green.
News

Brain organoids reveal neuronal flaws in syndrome tied to autism

by  /  12 October 2020

Neurons derived from people with 22q11.2 deletion syndrome show deficits in calcium signaling and electrical activity, pointing to possible therapeutic targets.

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July 2020
group of 4 brain views
News

Autistic people with rare mutation may have unique brain anatomy

by  /  17 July 2020

Brain structure of autistic people with deletions in the chromosomal region 22q11.2 differs from that of autistic people without the deletions.

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News

Fine-tuning brain activity reverses memory problems in mice with autism mutation

by  /  6 July 2020

Dampening overactive brain circuits alleviates social and memory problems in a mouse model of 22q11.2 deletion syndrome.

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November 2019
Strand of DNA with bases being deleted
News

Autism-linked gene variants increase odds of attention deficit

by  /  18 November 2019

A collection of rare genetic variants associated with autism and schizophrenia also seem to increase a person’s odds of having attention deficit hyperactivity disorder.

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