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Spectrum: Autism Research News

Tag: 16p11.2

June 2023
Image of three developing axons.

Autism’s ties to the cell skeleton

by  /  22 June 2023

Many genes related to the condition play a role in the internal scaffolding of cells, and cytoskeletal disruptions can affect neurodevelopment and behavior.

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Still from research video of mice socializing.

Multi-lab study hints at benefits of long-tested autism drug

by  /  8 June 2023

The results lend support for clinical trials of arbaclofen in people with an autism-linked condition, the researchers say.

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May 2023
A hand reaches from above to add a pill to a stack that is resting against the x-axis of a graph.

Going on Trial: Epidiolex for autism; arbaclofen tests; pain monitoring

by  /  30 May 2023

This month’s issue of Going on Trial takes a sneak peek at some early null results from a small trial of a cannabidiol-based drug for autism, among other recent drug developments.

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Photograph of white pills and blister pack on blue pastel colored background.

Trials of arbaclofen for autism yield mixed results

by  /  5 May 2023

Autistic children taking the drug showed improvements in some behaviors but not in their social skills.

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March 2023
Research diagram of brains viewed from overhead and in profile.

Brain signatures of rare variants hint at cardiovascular risk

by  /  24 March 2023

People whose brains look like those of people who carry autism-linked copy number variants also share markers of heart health.

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January 2023
Lab images of cilia.

Autism and the cell’s antennae

by  /  4 January 2023

Many autism-linked genes are somehow tied to cilia, the tiny hair-like sensors that stud a cell’s surface. But the question remains whether, and how, cilia differences contribute to the condition.

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December 2022
Neural progenitor cells in a culture medium, color-enhanced scanning electron micrograph (SEM).

Autism subgroups converge on cell growth pathway

by  /  5 December 2022

Faulty mTOR signaling, implicated in syndromic forms of autism, also hinders cells grown from people with idiopathic autism or autism-linked deletions on chromosome 16.

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X chromosome against a dark background.

Common and rare autism-linked variants share functional effects

by  /  1 December 2022

Within the 16p region of the genome, the two types of variants similarly decrease neuronal gene expression — an effect that may reflect their spatial relationship.

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November 2022
Geometric black-and-white brain model over a grid.

Excess of ‘don’t eat me’ cell signals may drive brain enlargement in autism

by  /  22 November 2022

The signal, called CD47, is disrupted in autistic people who have a larger-than-average head.

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October 2022
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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