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Spectrum: Autism Research News

Tag: rare variants

October 2021
Multicolored diagram comparing genetic burdens amongst non-autistic people, autistic people who carry specific rare mutations and autistic people who lack such mutations.

Rare mutations prevalent among autistic people

by  /  29 October 2021

A quarter of autistic people carry rare genetic variations linked to autism and other neurodevelopmental conditions, but these mutations alone may not be enough to lead to autism.

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Simple flat color DNA helix in two tones of blue.

Autism-linked genetic variants increase, decrease intelligence

by  /  19 October 2021

Common and rare variants in or near autism-associated genes can have opposite effects on cognition.

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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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