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Genes

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

August 2021

Molecular overlap links tuberous sclerosis, fragile X

by  /  16 August 2021

Brain cells from the cerebellums of mice that model tuberous sclerosis show dampened levels of proteins controlled by FMRP, the protein missing in fragile X syndrome.

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Holly Stessman standing in her garden looking up and holding her two chickens.

Beyond the Bench: A conversation with Holly Stessman

by  /  13 August 2021

When Holly Stessman isn’t probing autism genes, she is tending to her flock of chickens or seeking out the next great sci-fi movie.

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Colorful illustration of child's brain with electrodes connected EEG wave patterns, DNA strand, and playing siblings.

Connecting autism-linked genetic variation to infant social behavior

by ,  /  10 August 2021

Integrating genetic analyses into studies of babies’ brain development could help us understand how autism-related genes contribute to autism traits.

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Twin boys sleeping on green sheets.

Genetic roots of sleep issues, autism may be entwined

by  /  9 August 2021

The same genetic factors may underlie both autism and autistic people’s tendency to have sleep problems, such as insomnia.

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Drugs boost serotonin, socialization in multiple autism mouse models

by  /  6 August 2021

The finding that MDMA and an experimental serotonin agonist increase sociability across six different model mice suggests that disparate autism-linked mutations converge on the same underlying pathways.

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Images shows a pyramidal neuron.

How mutations in top autism gene could lead to seizures

by  /  5 August 2021

Deleterious mutations in an autism-associated gene can make neurons hyperexcitable, raising the risk of epileptic seizures.

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Mutations in the noncoding genome contribute to autism

by  /  2 August 2021

Spontaneous mutations in parts of the genome that regulate gene EBF3 appear to contribute to autism risk.

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July 2021

New tool maps cell types in lab-grown blobs of brain tissue

by  /  29 July 2021

The software compares gene expression in cells derived from organoids with a reference atlas of the developing mouse brain.

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Ultra-rare variants point to new autism candidate genes

by  /  26 July 2021

A large, whole-genome sequencing study of families yields insights into ultra-rare genetic variants that contribute to autism.

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

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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