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Spectrum: Autism Research News

Tag: rare variants

August 2021
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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July 2021

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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researchers analyzing a big change in a DNA helix

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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May 2021
DNA helix inside the human body

Autism genetics, explained

by  /  28 May 2021

The more scientists dig into DNA, the more intricate its contribution to autism seems to be. Here, we unravel the complex genetics of autism.

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

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

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

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.

Notable papers in autism research, 2020

by  /  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.

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

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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