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Genes

Rare or common, inherited or spontaneous, mutations form the core of autism risk.

July 2021
Micrographs comparing motor cortex neurons in mice with and without an extra copy of MECP2 gene.
News

Blocking key pathway reverses brain, behavior changes in autism mouse model

by  /  19 July 2021

Neurons in mice with an autism-linked mutation sprout extraneous protrusions, an overgrowth accompanied by above-average motor learning. Inhibiting a cell signaling pathway reverses the effect.

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Immature inhibitory cells surround mature neuron.
News

Critical time window flagged for autism gene’s influence

by  /  16 July 2021

A transplant of inhibitory neurons during the second week of life prevents social difficulties and a brain signaling imbalance in mice missing a copy of FOXG1.

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Four brown lab mice in a cage, top-down view, with one mouse away from the group.
News

Autism-linked mutation may blur brain’s boundary between self, others

by  /  15 July 2021

A mutation in the autism-linked gene SHANK3 changes how neurons encode information about social agency in mice.

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News

Patchwork mutations present a new frontier for autism research

by  /  12 July 2021

Mosaic mutations, which affect only some of the body’s cells, play a small but meaningful role in autism. Though they are difficult to study, researchers are working to master their complexity.

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researchers analyzing a big change in a DNA helix
News

Evolutionary approach reveals impact of missense variants in autism

by  /  7 July 2021

Cross-species comparisons can help make sense of subtle genetic variants in people with autism and identify hundreds of new genes that may contribute to the condition.

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Playful clay chromatin strand is not plugged in, there fore, not turned on
News

Autism’s link to chromatin remodeling, explained

by  /  6 July 2021

Many of the genes strongly linked to autism are involved in the remodeling of chromatin, the complex of DNA and proteins that makes up chromosomes. Scientists are just beginning to understand why.

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Micrograph showing fewer neurons in fetal mice whose mothers have only one functional copy of PTEN.
News

Maternal genetics may contribute to autism-like traits in mice via inflammation

by  /  2 July 2021

A mouse model hints that genes linked to inflammation in some women may increase the likelihood of autism in their children.

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June 2021
Micrograph of two developing axons, one with one copy of TSC2 gene and the other with two copies.
News

Disrupted cell skeletons may explain brain wiring changes in autism-linked condition

by  /  28 June 2021

Neuronal axons ignore guidance cues after a mutation in the gene TSC2 disrupts signaling through RhoA, a protein regulated by many autism-linked genes.

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Dr. Huda Zoghbi portrait
News / Profiles

Huda Zoghbi: Taking genetic inquiry to the next level

by  /  25 June 2021

Over the course of a career spanning more than three decades, Huda Zoghbi has won almost every major biology and neuroscience research award that exists. More than 20 years since she discovered the gene behind Rett syndrome, she remains laser focused on unlocking the condition’s secrets and finding effective treatments.

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Mouse brain cells seen in red
News

Autism-linked mutation may disrupt brain cell migration

by  /  23 June 2021

Mutations in CUL3, a leading autism gene, may disrupt the movements of neurons during development; correcting this misdirection could lead to an autism therapy.

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