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

Violet-stained neurons in a serial transverse section from an embryonic spiny dogfish, a bottom-dwelling shark.

Digitization of ‘breathtaking’ neuroanatomy slide collection offers untapped research gold mine

Thousands of histological sections of vertebrate brains—including from spiny dogfish, turtles and more—are newly available online.

By Shaena Montanari
22 January 2025 | 3 min read
Research image of brain organoids with astroglia formation represented in green.

Personalized medicine; astroglia organoids; fast track for fragile X drug

Here is a roundup of autism-related news and research spotted around the web for the week of 20 January.

By Jill Adams
21 January 2025 | 2 min read
Illustration of clinicians, a pill bottle, a speech bubble and shadowy figures.

Neuroscientists need to do better at explaining basic mental health research

The knowledge gap between scientists, health-care professionals, policymakers and people with mental health conditions is growing, slowing the translation of basic science to new treatments. Like lawyers learning to present a case to the court, scientists should learn to educate nonscientists about their findings.

By Omar Abubaker, Karla Kaun, Eric J. Nestler
21 January 2025 | 7 min read