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Spectrum: Autism Research News

Tag: rare variants

May 2022

Autism and the complete human genome: Q&A with Evan Eichler

by  /  10 May 2022

Scientists have at last filled in the missing gaps — an advance likely to inform every aspect of autism genetics research, Eichler says.

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February 2022

Top autism candidate gene tied to newly identified syndrome

by  /  17 February 2022

Mutations in the autism-linked gene PAX5 underlie a range of traits, including developmental delay, intellectual disability, seizures and autism.

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Real-world data on Rett syndrome: Q&A with Jana von Hehn

by  /  8 February 2022

The Rett Syndrome Global Registry is gathering data from people around the world with the rare condition to support clinical trials.

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December 2021

Cluster of traits tied to rare mutations in autism-linked gene

by  /  20 December 2021

Developmental delay, intellectual disability and behavioral issues are common among people who have mutations in MYT1L, a gene with strong ties to autism.

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Mouse cortex micrograph

Mutation in new autism candidate gene disrupts social brain area

by  /  16 December 2021

Mice missing a copy of the gene SENP1 have atypical social behavior likely due to a signaling imbalance in the retrosplenial cortex.

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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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