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Spectrum: Autism Research News

Tag: rare variants

September 2023
Research image of organoids in the forebrain.

Head size parts autism into two major subtypes

by  /  12 September 2023

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

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July 2023
Blurry photograph of a crowd of people on a street.

Some who lack autism diagnosis carry variants tied to the condition

by  /  13 July 2023

The variants are associated with slight differences in measures of intelligence, income and employment, but the relationship may not be causal.

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A couple drinks tea at a café.

Partner selection may amplify rare variants in children

by  /  6 July 2023

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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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