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Spectrum: Autism Research News

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Genes

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

August 2022
A large MRI scan of a human brain, with a grid of 15 smaller MRI scans to its left

Chromosome 22 mutations leave telltale marks on brain development in autistic people

by  /  24 August 2022

Many brain regions develop differently between people with 22q11.2 duplications and deletions, and those trajectories also vary with a person’s diagnosis.

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Several strands of DNA with different openings at different points to show different functions for the same gene at different points in time

‘Double duty’ autism-linked genes upend conventional characterizations

by  /  23 August 2022

What these genes do and how they affect autism depends on when in development they’re studied, despite what classic ‘gene ontology’ analyses say.

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Conceptual illustration of chromosomal abnormalities

Lumping versus splitting with autism-linked variants: A conversation with Vanessa Vogel-Farley and Yssa DeWoody

by  /  22 August 2022

Researchers have long studied subgroups of people who share genetic variants, but the newly formed ‘CNV Commission’ is also looking at people with shared traits across different neurodevelopmental conditions.

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Illustration of a cassette tape with the tape replaced by a DNA double helix

‘Retro-Cascorder’ tracks gene-expression timing

by  /  19 August 2022

The new tool may help researchers reconstruct the sequence of biological events that underlie development.

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Conceptual illustration of a DNA double helix

Scans of sundry variant types uncover autism-linked genes

by  /  18 August 2022

Troves of sequencing data reveal genes tied to autism through different variant types, providing a more complete picture of the condition’s genetic roots and new clues to its heterogeneity.

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Mutations disrupting chromatin interactions contribute to autism

by  /  8 August 2022

The mutations occur spontaneously in noncoding stretches of DNA that control gene expression.

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A pregnant woman and another figure are obscured by shadows.

Maternal genetics may confound studies of autism’s link to prenatal factors

by  /  2 August 2022

Women who carry genetic variants tied to autism have an elevated chance of experiencing pregnancy-related events linked to the condition in their children.

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July 2022

New software flags autism rat model’s telltale squeaks

by  /  29 July 2022

By breaking rodent vocalizations into parts, TrackUSF distinguishes rats with mutations in the SHANK3 gene from their wildtype counterparts.

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Sequencing trick identifies brain cells affected by large autism-linked mutation

by  /  25 July 2022

The method, called Orgo-Seq, reveals that a deletion of genes on chromosome 16 increases the proportion of immature neurons and neural precursors in brain organoids derived from people with the mutation.

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Scientist examining DNA (deoxyribonucleic acid) results on a screen in a laboratory.

How an expert panel evaluates genes for autism genetic tests

by  /  22 July 2022

About 15 percent of genes currently included in clinical genetic tests for autism or intellectual disability don’t have enough evidence to support their ties to the conditions, the panel found.

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