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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
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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Plethora of protein-making machines in neurons may underlie fragile X

by  /  21 July 2022

An overabundance of ribosomes drives an imbalance of proteins produced from long and short genetic transcripts in a mouse model of fragile X syndrome.

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Concept illustration of DNA deletion: 2 DNA strands extend horizontally across a burnt orange background. The bottom is intact, while there are gaps in the top strand.

Deletions on chromosome 22 have ripple effects across genome

by  /  20 July 2022

Deletion of the 22q11.2 chromosomal region alters the expression of numerous autism- and schizophrenia-linked genes, most of which are not contained within the deleted region, a new study suggests.

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Illustration shows calcium signaling astrocytes, which are star-shaped and change color from light blue to purple.

Portrait of a research field: astrocytes in autism

by  /  14 July 2022

Long cast in supporting roles in the brain, astrocytes are now emerging as primary players in certain characteristics of autism and related conditions.

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Figure in space heads towards unknown, dark area.

The final frontier: Autism geneticists take on the noncoding genome

by  /  12 July 2022

The vast stretches of DNA that don’t code for proteins could fill key knowledge gaps about autism genetics. But making sense of it all won’t be easy.

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