15q11-13
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.
![Research image of presynapses on sensory neurons in fruit flies.](https://www.thetransmitter.org/wp-content/uploads/2023/09/1200-UBE3A-autism-synaptic-pruning-fly-study.png)
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.
![Illustration of a sheet of red and white pills, with the red pills arranged in the form of a question mark.](https://www.thetransmitter.org/wp-content/uploads/2023/01/844-going-on-trial-autism-drugs-02.jpg)
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.
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.
![Jeremy Veenstra-VanderWeele looks directly into the camera with a calm expression in a close up shot.](https://www.thetransmitter.org/wp-content/uploads/2023/05/Jeremy_Veenstra-VanderWeele_autism-1200.jpg)
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.
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.
![Research diagram of brains viewed from overhead and in profile.](https://www.thetransmitter.org/wp-content/uploads/2023/03/844-CNVs-final-1.png)
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.
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.
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.
![Research image showing the presence of several proteins in neurons.](https://www.thetransmitter.org/wp-content/uploads/2023/02/844-lede-image-final.png)
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.
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.
![Illustration of multipolar neurons.](https://www.thetransmitter.org/wp-content/uploads/2022/11/Dup15q-neurons-autism-844.jpg)
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.
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.
![Conceptual illustration of a door leading from one area of the brain to another area of the brain.](https://www.thetransmitter.org/wp-content/uploads/2022/09/brain-connectivity-patterns-autism-genetic-heterogeneity-844.jpg)
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.
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.
![Conceptual illustration of chromosomal abnormalities](https://www.thetransmitter.org/wp-content/uploads/2022/08/Copy-numner-variants-genes-autism-844.jpg)
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.
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.
![](https://www.thetransmitter.org/wp-content/uploads/2022/05/Complete-genome-autism-844.jpg)
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.
Explore more from The Transmitter
New connectomes fly beyond the brain
Researchers are mapping the neurons in Drosophila’s ventral nerve cord, where the central nervous system meets the rest of the body.
![Research image of neurons in the fly’s ventral nerve cord.](https://www.thetransmitter.org/wp-content/uploads/2024/07/lede-motormodules-1200-1024x692.webp)
New connectomes fly beyond the brain
Researchers are mapping the neurons in Drosophila’s ventral nerve cord, where the central nervous system meets the rest of the body.
Building an autism research registry: Q&A with Tony Charman
A purpose-built database of participants who have shared genomic and behavioral data could give clinical trials a boost, Charman says.
![Illustration of researchers talking to laypeople amidst strands of DNA.](https://www.thetransmitter.org/wp-content/uploads/2024/07/1200_Charman-1024x687.webp)
Building an autism research registry: Q&A with Tony Charman
A purpose-built database of participants who have shared genomic and behavioral data could give clinical trials a boost, Charman says.
Cerebellar circuit may convert expected pain relief into real thing
The newly identified circuit taps into the brain’s opioid system to provide a top-down form of pain relief.
![](https://www.thetransmitter.org/wp-content/uploads/2024/07/paincircuit-1200-1024x692.webp)
Cerebellar circuit may convert expected pain relief into real thing
The newly identified circuit taps into the brain’s opioid system to provide a top-down form of pain relief.