Skip to main content

Spectrum: Autism Research News

Tag: rare variants

May 2023
Composite research image of organoids at several stages of development.

Genetic background sways effects of autism-linked mutation

by  /  18 May 2023

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

Comments
April 2023
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

by  /  14 April 2023

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

Comments
March 2023
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

by  /  30 March 2023

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.

Comments
A hand reaches from above to add a pill to a stack that is resting against the x-axis of a graph.

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

by  /  30 March 2023

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.

Comments
Research diagram of brains viewed from overhead and in profile.

Brain signatures of rare variants hint at cardiovascular risk

by  /  24 March 2023

People whose brains look like those of people who carry autism-linked copy number variants also share markers of heart health.

Comments
October 2022
Illustration of an X chromosome against a black background.

X-chromosome variants help explain autism’s sex bias

by  /  24 October 2022

The rare variants are also linked to ADHD and Tourette syndrome, two other conditions that disproportionately affect boys and men.

Comments
Conceptual illustration of two DNA helixes with several overlapping portions showing common and differing genes.

Genome scan spots common variant differences between autism and ADHD

by  /  12 October 2022

Common variants in five regions of the genome may determine whether someone has one condition versus the other.

Comments
August 2022
Illustration of two chromosomes with copy number variants.

‘Dosage sensitivity map’ predicts active ingredients in copy number variants

by  /  31 August 2022

The catalog of rare copy number variants tied to autism and other conditions could help researchers identify which genes account for the mutations’ effects.

Comments
Conceptual illustration of chromosomal abnormalities

Lumping versus splitting with autism-linked variants: A conversation with Vanessa Vogel-Farley and Yssa DeWoody

by  /  22 August 2022

Researchers have long studied subgroups of people who share genetic variants, but the newly formed ‘CNV Commission’ is also looking at people with shared traits across different neurodevelopmental conditions.

Comments
Conceptual illustration of a DNA double helix

Scans of sundry variant types uncover autism-linked genes

by  /  18 August 2022

Troves of sequencing data reveal genes tied to autism through different variant types, providing a more complete picture of the condition’s genetic roots and new clues to its heterogeneity.

Comments