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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.

December 2021

Myelin loss may explain how autism-linked DNA deletion affects cognition

by  /  8 December 2021

Deleting a copy of the gene TBX1 depletes the fatty myelin insulation that surrounds neurons and reduces cognitive speed in mice.

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Birdsong-related DNA sequences tied to autism-linked genes

by  /  6 December 2021

Genes that appear to play a role in some birds’ ability to learn songs are frequently mutated in autistic people.

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November 2021
A gloved-hand holds up a vial against a background of colorful lights that represent a sequenced genome.

Genetic effects stack up in some people with autism

by  /  23 November 2021

Rare variants that alter the expression of genes in the brain contribute to autism in people who also have a rare autism-linked mutation, according to a new study.

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New gene-editing tools delete long stretches of DNA

by  /  17 November 2021

Two new methods make it possible to delete long sections of the genome, expanding the reach of CRISPR gene editing.

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Gene therapy for rare form of autism may treat another

by  /  11 November 2021

A MECP2 gene therapy for Rett syndrome eases repetitive behaviors, anxiety and hyperactivity in a mouse model of Pitt-Hopkins syndrome.

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Dispatches from SfN 2021: Mitochondria, Rett therapy and oxytocin

These short reports from Spectrum journalists highlight some of the autism-related findings that caught our attention at the meeting this past week.

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Three mice sniffing each other.

Reversing mutations in top autism-linked gene makes adult mice more social

by  /  10 November 2021

Treatments that counteract the effects of an SCN2A mutation in mice increase the animals’ sociability in adulthood, according to a new unpublished study.

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Mouse neurons in red and pink on black.

Mouse model reveals root of breathing issues in rare form of autism

by  /  5 November 2021

Dysfunctional circuits and a rogue sodium channel in the brainstem may explain the disordered breathing pattern seen in children with Pitt-Hopkins syndrome, a form of autism.

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Photo: A scientist wearing a green shirt and white gloves holds two black laboratory mice. The viewer is looking over the scientist's shoulder at their cupped hands holding the mice.

Sex bias emerges in new mouse model with autism-linked mutation

by  /  3 November 2021

Compared with a previous mouse strain, a new model better reflects some of the difficulties that people with a rare autism-related syndrome experience, and may help identify biomarkers of the syndrome.

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October 2021
Multicolored diagram comparing genetic burdens amongst non-autistic people, autistic people who carry specific rare mutations and autistic people who lack such mutations.

Rare mutations prevalent among autistic people

by  /  29 October 2021

A quarter of autistic people carry rare genetic variations linked to autism and other neurodevelopmental conditions, but these mutations alone may not be enough to lead to autism.

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