De novo mutations

Genome structure could be key factor in some forms of autism

Variants in DNA stretches that do not code for proteins may alter the genome’s 3D architecture, influencing the expression of distant genes linked to autism.

By Giorgia Guglielmi
28 March 2024 | 4 min read
Illustration of half of a brain on the left and half of a heart on the right
Spectrum Microphone

Change of heart and mind: Autism’s ties to cardiac defects

Children with congenital heart disease have an increased likelihood of autism. Why?

By Lauren Schenkman
21 July 2023 | 12 min read
Blurry photograph of a crowd of people on a street.

Some who lack autism diagnosis carry variants tied to the condition

The variants are associated with slight differences in measures of intelligence, income and employment, but the relationship may not be causal.

By Charles Q. Choi
13 July 2023 | 4 min read
A couple drinks tea at a café.
Spectrum Microphone

Partner selection may amplify rare variants in children

Nonrandom mating — the propensity for people to partner with others who share their traits — can increase the likelihood of autism or other conditions across generations.

By Calli McMurray
6 July 2023 | 5 min read
Illustration of a brain.

Cortical differences in autism vary by sex

Compared with their non-autistic peers, young autistic girls have a thicker cortex that thins more quickly with age.

By Giorgia Guglielmi
4 May 2023 | 2 min read
Illustration of a room with DNA sequence wallpaper and three doors leading to abstract new environments.

The future of autism therapies: A conversation with Lilia Iakoucheva and Derek Hong

If a therapy for autism’s core traits makes it to market, it will likely take one of three forms, the researchers say.

By Peter Hess
14 April 2023 | 5 min read
An illustration of doctors examining a larger-than-life DNA strand

Whole-genome trove ties new genes, variants to autism

A massive update to the MSSNG dataset gives qualified researchers ready access to explore autism’s genetic architecture on a cloud-based platform.

By Isabel Ruehl
12 December 2022 | 4 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

Tying PPFIA3 to autism: A quick take at SfN with Tuan Chao and Maimuna Paul

Work in fruit flies has helped Paul decode a neurodevelopmental syndrome in children caused by rare de novo variants in the gene PPFIA3.

By Spectrum
15 November 2022 | 3 min watch
Three scans of zebrafish brains.
Spectrum Microphone

Zebrafish point to new gene involved in brain overgrowth, autism

The gene, YTHDF2, has not previously been linked to autism.

By Katharine Gammon
1 November 2022 | 2 min read

Explore more from The Transmitter

Research image of neurons in the fly’s ventral nerve cord.

New connectomes fly beyond the brain

Researchers are mapping the neurons in Drosophila’s ventral nerve cord, where the central nervous system meets the rest of the body.

By Laura Dattaro
26 July 2024 | 7 min read
Illustration of researchers talking to laypeople amidst strands of DNA.

Building an autism research registry: Q&A with Tony Charman

A purpose-built database of participants who have shared genomic and behavioral data could give clinical trials a boost, Charman says.

By Cathleen O’Grady
25 July 2024 | 8 min read

Cerebellar circuit may convert expected pain relief into real thing

The newly identified circuit taps into the brain’s opioid system to provide a top-down form of pain relief.

By Angie Voyles Askham
24 July 2024 | 6 min read