Angelman syndrome

Recent articles

Research image of presynapses on sensory neurons in fruit flies.

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
A grid of four brain scans showing excess cerebrospinal fluid.

Is excess brain fluid an early marker of autism?

Brain scans of hundreds of infants suggest that up to 80 percent of those with autism have unusual amounts of cerebrospinal fluid. Researchers are studying how this might contribute to the condition.

By Giorgia Guglielmi
17 August 2023 | 10 min read
Research image of interneurons in the outer layer of a human brain.

‘Gain-of-function’ mutation spawns autism traits

The mutation increases the activity of an autism-linked protein and leads to social difficulties and other behavioral differences in mice.

By Giorgia Guglielmi
24 July 2023 | 5 min read
Illustration of hybrid objects: part light bulb, part lab vial, some in blue and some in red to signify null and replicated results.

Prenatal exposures; Angelman trial suspension; autistic adult well-being

This month’s issue of the Null and Noteworthy newsletter breaks down some negative results involving prenatal exposures, an experimental treatment for Angelman syndrome, and the role that age at autism diagnosis plays in subsequent outcomes, and more.

By Emily Harris
17 July 2023 | 4 min read

Spotted around the web: Synthetic embryos; Angelman gene therapy

Here is a roundup of news and research for the week of 26 June.

By Jill Adams, Calli McMurray
30 June 2023 | 3 min read
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

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

By Peter Hess
14 April 2023 | 5 min read
Long-tailed macaque in the canopy of a fruiting strangler fig tree, surrounded by ripening figs. Gunung Palung National Park, Borneo.

RNA therapy restores gene function in monkeys modeling Angelman syndrome

The result raises hopes for an ongoing clinical trial in people — and offers fresh insight into the biology of imprinting and the UBE3A antisense transcript.

By Brendan Borrell
7 April 2023 | 5 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

Adult Angelman mice get some benefit from boosting UBE3A gene expression

The treatment eases the animals’ sleep troubles, suggesting it has clinically meaningful effects beyond what was thought to be a critical window in early life.

By Angie Voyles Askham
9 February 2023 | 5 min read

Explore more from The Transmitter

It’s time to examine neural coding from the message’s point of view

In studying the brain, we almost always take the neuron’s perspective. But we can gain new insights by reorienting our frame of reference to that of the messages flowing over brain networks.

By Daniel Graham
1 April 2025 | 0 min watch
Illustration of an open journal featuring lines of text and small illustrations of eyes and mouths.

Autism traits, mental health conditions interact in sex-dependent ways in early development

Here is a roundup of autism-related news and research spotted around the web for the week of 31 March.

By Jill Adams
1 April 2025 | 2 min read
Research image of an assembloid.

Organoids and assembloids offer a new window into human brain

These sophisticated 3D cultures reveal previously inaccessible stages of human brain development and enable the systematic study of disease genes.

By Sergiu P. Pasca
31 March 2025 | 6 min read