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Spectrum: Autism Research News

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Genes

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

July 2020
Micrograph of muscle cells

Some motor problems in autism may arise from cells outside brain

by  /  20 July 2020

The autism gene SHANK3 is crucial for the development and function of muscles and the motor neurons that control them.

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group of 4 brain views

Autistic people with rare mutation may have unique brain anatomy

by  /  17 July 2020

Brain structure of autistic people with deletions in the chromosomal region 22q11.2 differs from that of autistic people without the deletions.

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Selective enzyme blocker eases fragile X traits in mice

by  /  10 July 2020

A new treatment prevents seizures and improves memory in a mouse model of fragile X syndrome, according to a new study.

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DNA helix with mutation or deletion

Scores forecast effects of mutations in autism gene

by  /  8 July 2020

A new analysis links individual mutations in a gene called PTEN to a person’s odds of having autism, cancer or other conditions.

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Fine-tuning brain activity reverses memory problems in mice with autism mutation

by  /  6 July 2020

Dampening overactive brain circuits alleviates social and memory problems in a mouse model of 22q11.2 deletion syndrome.

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June 2020

Study links gene to inherited form of autism

by  /  25 June 2020

Mutations in both copies of a gene called ACTL6B lead to autism, epilepsy and intellectual disability.

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A genome data set shows colorful clusters by ancestry

Massive genomic database helps decode mutations’ effects

by  /  24 June 2020

A trove of DNA sequences from 141,456 people — and counting — offers an unparalleled look at genetic variation.

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Decade of data dents idea of a ‘female protective effect’

by  /  12 June 2020

Brothers and sisters of people with autism are both about two to three times more likely than the general population to have an autistic child themselves.

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May 2020

Reversing SHANK3 mutations in mice mitigates autism-like traits

by  /  28 May 2020

Correcting an autism gene mutation in fetal mice lessens some autism-like behaviors after birth.

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Rare mutations in autism genes tied to intellectual disability

by  /  22 May 2020

A new study highlights the challenge of distinguishing genetic variants linked to autism from those associated with cognitive development.

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