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Tag: rare variants

April 2021
Two views of mouse brain slices colorized in green and red.
News

Jump-starting growth signaling reverses microcephaly in autism mouse model

by  /  29 April 2021

A genetic therapy and an existing drug both restore typical brain size in mice missing DYRK1A, a top autism candidate gene, in the cerebral cortex, a new study shows. The animals typically have smaller brains than controls.

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March 2021
A lone Rhesus macaque looks into the camera
News / Toolbox

New macaque reference genome fills sequence gaps

by  /  4 March 2021

Researchers have created the most complete macaque reference genome to date and used it to catalog genetic variation among hundreds of monkeys.

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January 2021
lab mice
News

Mice with autism-related mutations show brain signaling imbalance

by  /  4 January 2021

Mutations in POGZ, a gene strongly linked to autism, lead to a signaling imbalance in multiple brain regions in mice, according to two new studies.

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December 2020
White lab mouse sitting in a gloved hand.
Features / Special Reports / Hindsight is 2020: The year in review

Notable papers in autism research, 2020

23 December 2020

Gene therapies and the factors influencing autism traits top Spectrum’s list of the 10 most notable research findings we covered in 2020.

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Paper DNA with one torn base to signify a point mutation.
News

Analysis links 98 genes to neurodevelopmental conditions

by  /  10 December 2020

Genetic sequences from nearly 53,000 people with autism, developmental delay or intellectual disability reveal strong ties to 98 genes.

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Cells transporting NCKAP1 protein in and out of nucleus
News

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.
News

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.
News

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.
News

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
News

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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