Rare variants

Recent articles

Research image of gene expression.

Sequencing study spotlights tight web of genes tied to autism

The findings, shared in a preprint, help to illuminate how a large and heterogeneous group of genes could be involved in autism.

By Katie Moisse
13 March 2025 | 5 min read
Research image highlighting different brain regions.

X marks the spot in search for autism variants

Genetic variants on the X chromosome, including those in the gene DDX53, contribute to autism’s gender imbalance, two new studies suggest.

By Holly Barker
16 January 2025 | 6 min read
Research image of frog cells.

Many autism-linked proteins influence hair-like cilia on human brain cells

The finding may help explain autism’s association with multiple co-occurring conditions that involve cilia defects.

By Charles Q. Choi
9 January 2025 | 4 min read
Illustration of hands sewing red and white threads in a DNA-like pattern into a blue-gray fabric.

Untangling biological threads from autism’s phenotypic patchwork reveals four core subtypes

People belonging to the same subtype share genetic variants, behaviors and often co-occurring diagnoses, according to a new preprint.

By Holly Barker
3 October 2024 | 5 min read
Stock photograph of a women and her young child at a clinician’s office.

A genetics-first clinic for catching developmental conditions early: Q&A with Jacob Vorstman

A new clinic is assessing children who have a genetic predisposition for autism and other neurodevelopmental conditions—sometimes before traits appear.

By Lauren Schenkman
15 August 2024 | 7 min read
Research illustration groups genes by their effects on brain cell types.

Giant analysis reveals how autism-linked genes affect brain cell types

Genes that predispose people to autism account for a large portion of the neuronal and glial cell changes seen in those with the condition.

By Charles Q. Choi
20 June 2024 | 5 min read

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
Research image of organoids in the forebrain.

Head size parts autism into two major subtypes

An imbalance in the number of excitatory neurons in early brain development may account for the difference.

By Charles Q. Choi
12 September 2023 | 4 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

Explore more from The Transmitter

Abstract illustration of a human brain.

‘Elusive Cures: Why Neuroscience Hasn’t Solved Brain Disorders—and How We Can Change That,’ an excerpt

In her new book, published today, neuroscientist Nicole Rust takes us on her personal quest to spell out the brain research community's "Grand Plan."

By Nicole Rust
10 June 2025 | 9 min read
Illustration of an open journal featuring lines of text and small illustrations of eyes and mouths.

Convergent effects of autism-linked genes in zebrafish; and more

Here is a roundup of autism-related news and research spotted around the web for the week of 9 June.

By Jill Adams
10 June 2025 | 2 min read
Research image containing repeated structures, suggesting potential image manipulation.

More than two dozen papers by neural tube researcher come under scrutiny

One of the studies, published in 2021 in Science Advances, received an editorial expression of concern on 21 May, after the journal learned that an institutional review of alleged image problems is underway.

By Claudia López Lloreda
9 June 2025 | 6 min read