Phelan-McDermid syndrome

Position heatmaps of mice performing a behavioral assay.

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.

By Holly Barker
10 August 2023 | 5 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
Graham Diering smiles in a portrait in his yard.
Modeling Microphone

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.

By Peter Hess
12 January 2023 | 17 min listen
Close-up profile of child with focus on eye.

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.

By Laura Dattaro
23 August 2021 | 4 min read
Mouse neuron recordings showing different levels of activity before and after an encounter with an unfamiliar mouse.

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.

By Peter Hess
18 June 2021 | 4 min read

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.

By Giorgia Guglielmi
21 January 2021 | 3 min read
Micrograph of muscle cells
Spectrum Microphone

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.

By Angie Voyles Askham
20 July 2020 | 5 min read
Illustration shows a boy with converging patterns overlapping; these lines signify autism and intellectual disability.

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.

By Emily Sohn
15 April 2020 | 15 min read
Close-up of mouse face and whiskers.

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.

By Laura Dattaro
27 March 2020 | 4 min read
Portrait of Geraldine Bliss and her son Charles

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.

By Peter Hess
19 November 2019 | 4 min read

Explore more from The Transmitter

Illustration of a canyon landscape with an orange clock face in place of a sun.

How to teach this paper: ‘Behavioral time scale synaptic plasticity underlies CA1 place fields,’ by Bittner and Milstein et al. (2017)

Katie Bittner, Aaron Milstein and their colleagues found that cellular learning can happen over longer timescales than Hebb’s rule predicts. How long should we wait to teach students about this phenomenon?

By Ashley Juavinett
24 June 2024 | 11 min read
Portrait of Kaspar Podgorski standing in his lab wearing a helmet with a climbing rope over his shoulder.

Climbing to new heights: Q&A with Kaspar Podgorski

The optical physiologist tracks neural computations inside the lab and scales sheer rock faces outside—even after a life-changing fall.

By Elissa Welle
21 June 2024 | 8 min read
Research illustration groups genes by their effects on brain cell types.

Giant analysis reveals how autism-linked genes affect brain cell types

Genes that predispose people to autism account for a large portion of the neuronal and glial cell changes seen in those with the condition.

By Charles Q. Choi
20 June 2024 | 5 min read