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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
Illustration of a binocular microscope with an X Chromosome in one eyepiece and cancer cells in the other.

The cloudy connection between fragile X and cancer

by  /  28 September 2022

People with the autism-linked syndrome lack a protein implicated in several cancers, but it’s unclear whether — or how — they are protected from malignancies.

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A pregnant woman lies in a hospital bed.

Registry review casts doubt on causal link between maternal infection and autism

by  /  23 September 2022

The long-standing link between maternal infection during pregnancy and having a child with autism may reflect common genetic or environmental factors instead.

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Set of 6 scans shows mice recovering MECP2 protein in their brainstem after being treated with RNA-editing viruses.

RNA rewrite improves breathing, survival in Rett mice

by  /  22 September 2022

The technique involves editing the cellular instructions to make MECP2 protein and partially restores its levels in the brainstem.

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A brown lab mouse perches on a researcher's hand.

Largest-yet fragile X mutation in mice confirms model’s shortcomings

by  /  14 September 2022

A 341-repeat mutation from a person with fragile X does not lead to the syndrome’s traits or function the same way in mice, highlighting a need for different animal models.

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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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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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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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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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