Rare variants

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.
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
Composite research image of organoids at several stages of development.
Spectrum Microphone

Genetic background sways effects of autism-linked mutation

Experiments offer clues to why certain mutations are associated with autism in some people and not others.

By Charles Q. Choi
18 May 2023 | 4 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
Illustration of a single patient in a clinical trial sitting on a bed in a glitchy, imperfectly rendered room.

Lessons from n-of-1 trials: A conversation with Joseph Gleeson

Some conditions are too rare for conventional drug trials, leading some scientists to test bespoke treatments in single participants. Gleeson discusses the merits — and limitations — of these tiny trials.

By Peter Hess
30 March 2023 | 7 min read
A hand reaches from above to add a pill to a stack that is resting against the x-axis of a graph.
Spectrum Microphone

Going on Trial: Trofinetide approval for Rett; n-of-1 ASO therapies; cord-blood deals

This month’s issue of the Going on Trial newsletter examines personalized therapies for rare conditions, Acadia’s new drug for Rett syndrome and developments in a cord-blood program, among other autism-related drug trial news.

By Peter Hess
30 March 2023 | 8 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

Explore more from The Transmitter

Research image of a variety of brain atlases.

New ‘decoder’ tool translates functional neuroimaging terms across labs

The compendium of brain-parcellation atlases makes it possible to compare large-scale network data, which often involves different and overlapping network names.

By Holly Barker
23 July 2024 | 4 min read
Research image showing connectivity in brain regions in female mice with and without a UBE3A variant.

CNTNAP2 variants; trait trajectories; sensory reactivity

Here is a roundup of autism-related news and research spotted around the web for the week of 22 July.

By Jill Adams
23 July 2024 | 2 min read

Women are systematically under-cited in neuroscience. New tools can change that.

An omitted citation in a high-profile paper led us to examine our own practices and to help others adopt tools that promote citation diversity.

By Anne Churchland, Felicia Davatolhagh
22 July 2024 | 5 min read