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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.

October 2022
Jeremy Levin, chief executive officer of Ovid Therapeutics, stands against a bench in a lab.

What next for Angelman?

by  /  20 October 2022

A meeting in Texas reckons with the future of treatment, following two setbacks in 2020.

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Mouse brain slices showing the effects of SHANK2 and SHANK3 deletions.

Double SHANK knockout highlights brain circuit’s social role

by  /  19 October 2022

Mice missing the autism-linked SHANK2 and SHANK3 genes in their retrosplenial cortex have trouble distinguishing between novel and familiar mice.

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A young girl rubs her eyes in a dark room.

Autistic people at increased genetic risk of sleep problems

by  /  18 October 2022

Compared with their unaffected siblings and unrelated controls, children with autism harbor more copy number variants in genes that govern the circadian cycle or are associated with insomnia.

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Conceptual illustration of two DNA helixes with several overlapping portions showing common and differing genes.

Genome scan spots common variant differences between autism and ADHD

by  /  12 October 2022

Common variants in five regions of the genome may determine whether someone has one condition versus the other.

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Still image from a time-lapse video of neuronal development.

Gene in autism hotspot regulates neuronal migration

by  /  10 October 2022

Restoring the gene, TAOK2, in mice missing an autism-linked region of chromosome 16 normalizes neuronal movement during development.

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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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