16p11.2

Spectrum Microphone

Autism’s ties to the cell skeleton

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

By Giorgia Guglielmi
22 June 2023 | 7 min read

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

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

By Angie Voyles Askham
8 June 2023 | 5 min read
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

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.

By Peter Hess
30 May 2023 | 7 min read
Photograph of white pills and blister pack on blue pastel colored background.
Spectrum Microphone

Trials of arbaclofen for autism yield mixed results

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

By Giorgia Guglielmi
5 May 2023 | 5 min read
Research diagram of brains viewed from overhead and in profile.

Brain signatures of rare variants hint at cardiovascular risk

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

By Laura Dattaro
24 March 2023 | 4 min read
Lab images of cilia.
Spectrum Microphone

Autism and the cell’s antennae

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.

By Giorgia Guglielmi
4 January 2023 | 6 min read
X chromosome against a dark background.

Common and rare autism-linked variants share functional effects

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.

By Nora Bradford
1 December 2022 | 4 min read
Geometric black-and-white brain model over a grid.
Spectrum Microphone

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

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

By Peter Hess
22 November 2022 | 4 min read

Gene in autism hotspot regulates neuronal migration

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

By Holly Barker
10 October 2022 | 4 min read
Conceptual illustration of a door leading from one area of the brain to another area of the brain.
Spectrum Microphone

Autism’s genetic heterogeneity evident in brain connectivity patterns

The results highlight the importance of subgrouping study participants based on their underlying genetics, the researchers say.

By Angie Voyles Askham
27 September 2022 | 5 min read

Explore more from The Transmitter

A digitally distorted image of a file folder against a blue gradient background.

Data access changes to UK Biobank stir unease in neuroscientists

“I feel a little bit in limbo,” says neuroscientist Stephanie Noble, who has paused a study using Biobank data after the repository shifted from a data download to a cloud-only access model.

By Calli McMurray
16 July 2024 | 7 min read
Illustration of an open journal featuring lines of text and small illustrations of eyes and mouths.

Bumetanide; sex-biased gene expression; racial and ethnic disparities

Here is a roundup of autism-related news and research spotted around the web for the week of 15 July.

By Jill Adams
16 July 2024 | 1 min read
Illustration of a scientist attempting to wrangle many forms of data at once: a pile of charts and graphs threatens to knock them off of their feet as they attempt to prop it up.

Neuroscience graduate students deserve comprehensive data-literacy education

Despite growing requirements around how to handle and share data, formal training is lacking.

By Letisha R. Wyatt
15 July 2024 | 6 min read