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Spectrum: Autism Research News

Tag: rare variants

October 2021
Two colorful mouse neurons seen side by side on black, one has a mutation.

Precocious neurons may stunt brain growth in rare form of autism

by  /  5 October 2021

The first animal model of MYT1L syndrome suggests that fast-maturing neurons lead to the unusually small brains, social deficits and other traits seen in people with the condition.

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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

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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