De novo mutations

Recent articles

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

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.

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.

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 | 3 min read

Explore more from The Transmitter

Tiger in a brain scanner.

Lions and tigers and bears: Long-lived zoo animals offer a promising venue to study mental health and neurodegenerative disorders

These animals’ lifestyles often mirror those of people, making them a more relevant milieu than lab mice for determining how environmental factors influence mental health and cognitive decline. Studying them could improve animal welfare in the process.

By Christine J. Charvet
17 March 2025 | 5 min read
Composite of brain imaging techniques.

Thanks to new technologies, neuroscientists have more direct access to the human brain than ever before

Model systems continue to offer us tremendous insight, but it’s time for basic researchers to train their sights on the human brain. If I were starting my career today, I would focus on human neurobiology.

By Joshua R. Sanes
17 March 2025 | 7 min read
Patient being administered an EEG test.

Single-neuron recordings are helping to unravel complexities of human cognition

As this work begins to bear fruit, researchers “are becoming less afraid to ask very difficult questions that you can uniquely ask in people.”

By Claudia López Lloreda
14 March 2025 | 8 min read