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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.

September 2022
Brain scans demonstrating differences in mice with TBR1 mutations.

Mutation-specific models highlight autism’s heterogeneity

by  /  12 September 2022

The brains of mice carrying different mutations in the autism-linked gene TBR1 display different molecular changes yet similar structural changes, resembling those previously found in autistic people with TBR1 mutations.

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Lab mice (Mus musculus), tribe Balbc, three 13 day old babies with eyes still closed, laying side by side

Sleepy mice with autism-linked mutation struggle to fall asleep

by  /  12 September 2022

Mice with a mutated copy of SHANK3 fail to establish normal sleep patterns during development.

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Lost sleep sparks lasting social problems in SHANK3 mice

by  /  12 September 2022

Sleep disruption early in life has long-lasting consequences for mice missing a copy of the autism-linked gene SHANK3.

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Human silhouettes are seen against a colorful, abstract representation of a genetic sequence.

How geneticists can gain greater buy-in from the autistic community

by  /  9 September 2022

My recommendations aim to foster a collaborative relationship between researchers and the Autistic community, resulting in an increase in the availability of genetic data.

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August 2022
Illustration of two chromosomes with copy number variants.

‘Dosage sensitivity map’ predicts active ingredients in copy number variants

by  /  31 August 2022

The catalog of rare copy number variants tied to autism and other conditions could help researchers identify which genes account for the mutations’ effects.

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Promising preclinical results prompt Angelman therapy trial

by  /  25 August 2022

Roche’s gene therapy drug Rugonersen boosts expression of the protein missing in the syndrome in mice and monkeys, but whether it works in people remains to be seen.

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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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