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

Brain organoids overgrowth; DSCAM gene; sleep issues in autism

Here is a roundup of autism-related news and research spotted around the web for the week of 24 June.

By Jill Adams
25 June 2024 | 2 min read
Close-up image of a dead fly with visible growths protruding from its abdomen due to Entomophthora fungus infection.

Mind control in zombie flies: Q&A with Carolyn Elya

A parasitic fungus compels its insect host to behave in strange ways by hijacking secretory neurons and circadian pathways.

By Shaena Montanari
25 June 2024 | 5 min read
Illustration of a canyon landscape with an orange clock face in place of a sun.

How to teach this paper: ‘Behavioral time scale synaptic plasticity underlies CA1 place fields,’ by Bittner and Milstein et al. (2017)

Katie Bittner, Aaron Milstein and their colleagues found that cellular learning can happen over longer timescales than Hebb’s rule predicts. How long should we wait to teach students about this phenomenon?

By Ashley Juavinett
24 June 2024 | 11 min read