16p11.2

Recent articles

Research image of human thalamus.

Among brain changes studied in autism, spotlight shifts to subcortex

The striatum and thalamus are more likely than the cerebral cortex to express autism variants or bear transcriptional changes, two unpublished studies find.

By Holly Barker
11 December 2025 | 5 min read

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.

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.

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.

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

Explore more from The Transmitter

Research image of lesion network mapping.

‘Overdue’ debate unfurls over neuroimaging method

After a January paper questioned the validity of an approach called lesion network mapping, its users are pressure testing their results.

By Angie Voyles Askham
17 April 2026 | 8 min read
Research image of zebrafish brain activity.

Nearly 400 compounds affect behaviors tied to autism-linked genes in zebrafish

Estropipate, paclitaxel and levocarnitine altered behaviors tied to SCN2A and DYRK1A variants specifically, a new open-source platform revealed.

By Charles Q. Choi
16 April 2026 | 4 min read
NINDS building.

What neuroscientists want from a new NINDS director

The search is underway for the next director of the U.S. National Institute of Neurological Disorders and Stroke, who will face a range of challenges, neuroscientists say, but will also have an “immense opportunity to do good things.”

By Helena Kudiabor
15 April 2026 | 4 min read