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Spectrum: Autism Research News

Tag: rare variants

December 2020
Cells transporting NCKAP1 protein in and out of nucleus

Rare variants tied to neuronal migration, autism traits

by  /  4 December 2020

Many people with mutations in the NCKAP1 gene have autism or autism traits, according to a new study spanning seven countries.

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Brain images color-coded to show structural changes in autism.

Gene expression maps reveal origins of brain changes from autism mutations

by  /  4 December 2020

A new study pinpoints the genes and cell types that may underlie the atypical brain structure seen in people with genetic conditions linked to autism.

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November 2020
SYNGAP1 protein between neurons.

Reactions from the 2020 SYNGAP1 Scientific Conference

by  /  25 November 2020

Spectrum is covering the 2020 International SYNGAP1 Scientific Conference, which took place virtually because of the coronavirus pandemic. Here we’re highlighting researchers’ reactions to noteworthy presentations.

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Young zebrafish have transparent skin, which allows researchers to track the movements of glowing beads of excrement through their gut.

Zebrafish and ‘Smurf cakes’ link autism gene mutation to digestive woes

by  /  24 November 2020

Mutations in a top autism gene called SYNGAP1 slow the rate at which zebrafish digest food and pass waste, and may also disrupt gut function in people.

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Dilated mouse pupil

Mice reveal roots of sensory issues tied to top autism gene

by  /  23 November 2020

Mice with mutations in the autism-linked gene SYNGAP1 have trouble sensing touch, which may stem in part from brain-circuit alterations and dulled alertness.

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Group of DNA helixes are seen on black

Analysis combining variants, conditions uncovers hundreds of neurodevelopmental genes

by  /  2 November 2020

The first genetic analysis of multiple types of variants from people with autism or other neurodevelopmental conditions reveals hundreds of genes that may be linked to neurodevelopment.

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October 2020

Reactions from ASHG 2020

by  /  30 October 2020

Get the inside scoop from the 2020 American Society of Human Genetics annual meeting.

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July 2020
Man working from home office.

INSAR 2020, from home

by  /  31 July 2020

Like so many other events this year, autism’s biggest annual conference — the International Society for Autism Research meeting — was forced to go virtual because of the coronavirus pandemic.

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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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