Phelan-McDermid syndrome
New test taps nose pokes as a proxy for social motivation in mice
Over one hour, a particularly motivated mouse poked its nose 350 times into a hole in the test chamber in the hopes of meeting a playmate.
![Position heatmaps of mice performing a behavioral assay.](https://www.thetransmitter.org/wp-content/uploads/2023/08/1200-social-motivation-assay-autism.png)
New test taps nose pokes as a proxy for social motivation in mice
Over one hour, a particularly motivated mouse poked its nose 350 times into a hole in the test chamber in the hopes of meeting a playmate.
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.
Asleep in the Mouse House with Graham Diering
Memories from Diering’s life trace the rising star’s scientific path from raising lizards as a child and later exploring home brewing to heading a lab that investigates memory, sleep disturbances and early development in animals with autism-linked mutations.
![Graham Diering smiles in a portrait in his yard.](https://www.thetransmitter.org/wp-content/uploads/2023/01/Autism-Graham-Diering-844.jpg)
Asleep in the Mouse House with Graham Diering
Memories from Diering’s life trace the rising star’s scientific path from raising lizards as a child and later exploring home brewing to heading a lab that investigates memory, sleep disturbances and early development in animals with autism-linked mutations.
Visual response shows promise as biomarker in autism-linked condition
Brain responses to visual stimuli are smaller and weaker in children with Phelan-McDermid syndrome, an autism-linked genetic condition, than in non-autistic children.
![Close-up profile of child with focus on eye.](https://www.thetransmitter.org/wp-content/uploads/1970/01/VEP-844.jpg)
Visual response shows promise as biomarker in autism-linked condition
Brain responses to visual stimuli are smaller and weaker in children with Phelan-McDermid syndrome, an autism-linked genetic condition, than in non-autistic children.
Neural network captures noisy neurons in autism mouse model
Mice missing the autism-linked gene SHANK3 use more neurons to engage in social behavior than control mice do, reflecting a more disorganized, less efficient brain signaling network.
![Mouse neuron recordings showing different levels of activity before and after an encounter with an unfamiliar mouse.](https://www.thetransmitter.org/wp-content/uploads/2021/06/20210610-PrefrontalCortex844.jpg)
Neural network captures noisy neurons in autism mouse model
Mice missing the autism-linked gene SHANK3 use more neurons to engage in social behavior than control mice do, reflecting a more disorganized, less efficient brain signaling network.
Brain ‘assembloids’ capture circuit flaws in syndrome tied to autism
Merging 3D clusters of neurons that mimic different brain regions models the atypical electrical activity seen in an autism-related condition.
Brain ‘assembloids’ capture circuit flaws in syndrome tied to autism
Merging 3D clusters of neurons that mimic different brain regions models the atypical electrical activity seen in an autism-related condition.
Some motor problems in autism may arise from cells outside brain
The autism gene SHANK3 is crucial for the development and function of muscles and the motor neurons that control them.
![Micrograph of muscle cells](https://www.thetransmitter.org/wp-content/uploads/1970/01/20200716-SHANK3-844.jpg)
Some motor problems in autism may arise from cells outside brain
The autism gene SHANK3 is crucial for the development and function of muscles and the motor neurons that control them.
The blurred line between autism and intellectual disability
Doctors often conflate autism and intellectual disability, and no wonder: The biological distinction between them is murky. Scientific progress depends on knowing where the conditions intersect — and part ways.
![Illustration shows a boy with converging patterns overlapping; these lines signify autism and intellectual disability.](https://www.thetransmitter.org/wp-content/uploads/2020/04/IDLead844.jpg)
The blurred line between autism and intellectual disability
Doctors often conflate autism and intellectual disability, and no wonder: The biological distinction between them is murky. Scientific progress depends on knowing where the conditions intersect — and part ways.
Sensory sensitivity in autistic people may stem from subset of neurons
Mice missing an autism gene called SHANK3 tend to be hypersensitive to touch, which may stem from underactivity of neurons that normally dampen sensory responses.
![Close-up of mouse face and whiskers.](https://www.thetransmitter.org/wp-content/uploads/2020/03/20200319_GABAergic844.jpg)
Sensory sensitivity in autistic people may stem from subset of neurons
Mice missing an autism gene called SHANK3 tend to be hypersensitive to touch, which may stem from underactivity of neurons that normally dampen sensory responses.
New family group pursues treatments for autism-linked syndrome
After a decade of working with the Phelan-McDermid Syndrome Foundation, Geraldine Bliss has co-founded a new organization to develop therapies for the condition.
![Portrait of Geraldine Bliss and her son Charles](https://www.thetransmitter.org/wp-content/uploads/2019/11/20191119-BlissCharlesfinal844.jpg)
New family group pursues treatments for autism-linked syndrome
After a decade of working with the Phelan-McDermid Syndrome Foundation, Geraldine Bliss has co-founded a new organization to develop therapies for the condition.
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.