Phelan-McDermid syndrome
Recent articles
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.
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.
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.
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.
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.
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.
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.
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.
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
Cracking the code of the extracellular matrix
Despite evidence for a role in plasticity and other crucial functions, many neuroscientists still view these proteins as “brain goop.” The field needs technical advances and a shift in scientific thinking to move beyond this outdated perspective.
Cracking the code of the extracellular matrix
Despite evidence for a role in plasticity and other crucial functions, many neuroscientists still view these proteins as “brain goop.” The field needs technical advances and a shift in scientific thinking to move beyond this outdated perspective.
Huntington’s disease gene variants past a certain size poison select cells
The findings—providing “the next step in the whole pathway”—help explain the disease’s late onset and offer hope that it has an extended therapeutic window.
Huntington’s disease gene variants past a certain size poison select cells
The findings—providing “the next step in the whole pathway”—help explain the disease’s late onset and offer hope that it has an extended therapeutic window.
X marks the spot in search for autism variants
Genetic variants on the X chromosome, including those in the gene DDX53, contribute to autism’s gender imbalance, two new studies suggest.
X marks the spot in search for autism variants
Genetic variants on the X chromosome, including those in the gene DDX53, contribute to autism’s gender imbalance, two new studies suggest.