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Genes

Rare or common, inherited or spontaneous, mutations form the core of autism risk.

December 2020
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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stock image shows a color coded DNA sequence
News / Toolbox

Catalog details sex differences in gene expression, regulation

by  /  2 December 2020

Researchers expand a massive repository of data on gene activity in people to show differences between males and females.

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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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Young zebrafish have transparent skin, which allows researchers to track the movements of glowing beads of excrement through their gut.
News

Zebrafish and ‘Smurf cakes’ link autism gene mutation to digestive woes

by  /  24 November 2020

Mutations in a top autism gene called SYNGAP1 slow the rate at which zebrafish digest food and pass waste, and may also disrupt gut function in people.

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Mother affectionately hugging young son.
News

Inheritance plays different roles in autism with and without intellectual disability

by  /  19 November 2020

Autism with intellectual disability is less heritable than autism alone, according to a new study of how the conditions run in extended families.

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

Prenatal CRISPR therapy blocks Angelman syndrome traits in mice

by  /  9 November 2020

A gene-editing treatment shows long-lasting effects in a mouse model of Angelman syndrome, a genetic condition related to autism.

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Photograph of lab researchers at Ultragenyx
News

Gene therapy trial for autism-linked condition is put on hold

by  /  5 November 2020

All five participants in a clinical trial of a gene therapy for Angelman syndrome experienced leg weakness, leading sponsors to pause the study.

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Group of DNA helixes are seen on black
News

Analysis combining variants, conditions uncovers hundreds of neurodevelopmental genes

by  /  2 November 2020

The first genetic analysis of multiple types of variants from people with autism or other neurodevelopmental conditions reveals hundreds of genes that may be linked to neurodevelopment.

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October 2020
News

Integrating molecular data may reveal subgroups of autism

by  /  30 October 2020

An analysis of four molecular datasets shows a distinct signature, including changes in gene expression and chemical DNA modifications, in some autism brains.

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News

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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