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Tag: 22q11

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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December 2020
Micrograph of nerve cells being targeted by CRISPR enzyme to activate the silenced gene in Angelman syndrome

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

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.

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.

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.

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

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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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

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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