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Spectrum: Autism Research News

Tag: 15q11-13

September 2023
Research image of presynapses on sensory neurons in fruit flies.

UBE3A’s link to synaptic pruning bolstered by fly study

by  /  28 September 2023

Increasing or reducing the levels of the UBE3A gene, which is associated with autism and autism-related syndromes, results in altered patterns of synaptic pruning — a process that snips away brain cell connections.

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August 2023
Illustration of a sheet of red and white pills, with the red pills arranged in the form of a question mark.

Trials test utility of EEG biomarkers for autism-related conditions

by  /  31 August 2023

This month’s Going on Trial newsletter dives into an electroencephalography biomarker that could track the efficacy of treatments for dup15q and Angelman syndromes, among other drug development news.

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May 2023
Jeremy Veenstra-VanderWeele looks directly into the camera with a calm expression in a close up shot.

Swings and misses with Jeremy Veenstra-VanderWeele

by  /  30 May 2023

A careful clinician who prizes evidence, Jeremy Veenstra-VanderWeele is happy to embrace trial failures, as long as he learns from them.

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March 2023
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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Still image showing activity of activity of neurons with genetic mutations in the 15q11-13 chromosomal region.

Single gene insufficient to account for dup15q, Angelman traits

by  /  21 March 2023

UBE3A, a key gene associated with both autism-linked conditions, can explain most — but not all — of the syndromes’ atypical neuronal properties.

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February 2023
Research image showing the presence of several proteins in neurons.

Protein networks identified in autism-linked genetic deletion

by  /  28 February 2023

The OTUD7A gene, which may account for some traits in people missing a segment of chromosome 15, appears to interact with several known autism-linked genes.

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November 2022
Illustration of multipolar neurons.

Consistent, convergent pathways link two forms of autism

by  /  15 November 2022

People with dup15q syndrome and those with idiopathic autism have similar patterns of altered gene expression in early brain development and later in life.

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September 2022
Conceptual illustration of a door leading from one area of the brain to another area of the brain.

Autism’s genetic heterogeneity evident in brain connectivity patterns

by  /  27 September 2022

The results highlight the importance of subgrouping study participants based on their underlying genetics, the researchers say.

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August 2022
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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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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