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Spectrum: Autism Research News

Tag: rare variants

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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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.

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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.

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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.

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June 2022
black-and-white image of a burst of neuron activity, indicated by the neurons flashing brightly and simultaneously

Autism-linked mutation alters neuronal network activity

by  /  7 June 2022

Neurons with a faulty copy of SETD1A, a gene tied to autism and schizophrenia, show structural abnormalities and altered connectivity patterns.

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A street crowded with pedestrian traffic

Spectrum of variants contribute differently to autism traits

by  /  3 June 2022

Different combinations of common, rare, inherited and spontaneous mutations may explain why traits vary so widely among autistic people.

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May 2022

Autism and the complete human genome: Q&A with Evan Eichler

by  /  10 May 2022

Scientists have at last filled in the missing gaps — an advance likely to inform every aspect of autism genetics research, Eichler says.

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February 2022

Top autism candidate gene tied to newly identified syndrome

by  /  17 February 2022

Mutations in the autism-linked gene PAX5 underlie a range of traits, including developmental delay, intellectual disability, seizures and autism.

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Real-world data on Rett syndrome: Q&A with Jana von Hehn

by  /  8 February 2022

The Rett Syndrome Global Registry is gathering data from people around the world with the rare condition to support clinical trials.

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