Angelman syndrome
Recent articles
Advances in genetic medicine took center stage at INSAR
The president of the Autism Science Foundation and parent of a child with profound autism reflects on how advances in the treatment of rare gene variants bring hope to many families.
Advances in genetic medicine took center stage at INSAR
The president of the Autism Science Foundation and parent of a child with profound autism reflects on how advances in the treatment of rare gene variants bring hope to many families.
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.
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.
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.
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.
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.
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.
‘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.
‘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.
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.
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.
Spotted around the web: Synthetic embryos; Angelman gene therapy
Here is a roundup of news and research for the week of 26 June.
Spotted around the web: Synthetic embryos; Angelman gene therapy
Here is a roundup of news and research for the week of 26 June.
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.
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.
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.
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.
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.
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.
Explore more from The Transmitter
The next unit of science: Is the scientific paper due to be replaced?
Artificial intelligence is pushing scientific publishing to the brink. For a field as sprawling as neuroscience, the crisis may also be an opportunity to finally connect findings across subfields.
The next unit of science: Is the scientific paper due to be replaced?
Artificial intelligence is pushing scientific publishing to the brink. For a field as sprawling as neuroscience, the crisis may also be an opportunity to finally connect findings across subfields.
Funding crisis in Argentina sparks new wave of protests
Two years after the country’s research funding collapsed, scientists are demonstrating against the government’s failure to restore previously cut scholarships and increase salaries as required by a 2025 law.
Funding crisis in Argentina sparks new wave of protests
Two years after the country’s research funding collapsed, scientists are demonstrating against the government’s failure to restore previously cut scholarships and increase salaries as required by a 2025 law.
‘Slightly unhinged’ federal autism meeting portends unclear research priorities
The meeting last week sparked concerns about the latest Interagency Autism Coordinating Committee’s ability to perform its core function: developing a strategy to support autism research.
‘Slightly unhinged’ federal autism meeting portends unclear research priorities
The meeting last week sparked concerns about the latest Interagency Autism Coordinating Committee’s ability to perform its core function: developing a strategy to support autism research.