15q11-13

Research image of presynapses on sensory neurons in fruit flies.
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UBE3A’s link to synaptic pruning bolstered by fly study

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.

By Giorgia Guglielmi
28 September 2023 | 5 min read
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

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.

By Calli McMurray
31 August 2023 | 7 min read
Jeremy Veenstra-VanderWeele looks directly into the camera with a calm expression in a close up shot.
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Swings and misses with Jeremy Veenstra-VanderWeele

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

By Peter Hess
30 May 2023 | 13 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

Single gene insufficient to account for dup15q, Angelman traits

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

By Angie Voyles Askham
21 March 2023 | 6 min read
Research image showing the presence of several proteins in neurons.

Protein networks identified in autism-linked genetic deletion

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.

By Jef Akst
28 February 2023 | 6 min read
Illustration of multipolar neurons.
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Consistent, convergent pathways link two forms of autism

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

By Angie Voyles Askham
15 November 2022 | 3 min read
Conceptual illustration of a door leading from one area of the brain to another area of the brain.
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Autism’s genetic heterogeneity evident in brain connectivity patterns

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

By Angie Voyles Askham
27 September 2022 | 5 min read
Conceptual illustration of chromosomal abnormalities

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

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.

By Peter Hess
22 August 2022 | 5 min read

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

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

By Charles Q. Choi
10 May 2022 | 8 min read

Explore more from The Transmitter

Portrait of Kaspar Podgorski standing in his lab wearing a helmet with a climbing rope over his shoulder.

Climbing to new heights: Q&A with Kaspar Podgorski

The optical physiologist tracks neural computations inside the lab and scales sheer rock faces outside—even after a life-changing fall.

By Elissa Welle
21 June 2024 | 8 min read
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

Widely used calcium imaging protocol can lead to spurious results, new paper cautions

The technique, which measures calcium currents as a proxy for neuronal firing, sometimes reports unusual and potentially misleading waves of activity in the hippocampus.

By Angie Voyles Askham
19 June 2024 | 0 min watch