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Spectrum: Autism Research News

Tag: whole-genome sequencing

September 2023

Common genetic variants shape the structure of the cortex

by  /  18 September 2023

A genome-wide association study lays a foundation for deeper investigation of these variants in neurodevelopmental conditions.

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Research image of organoids in the forebrain.

Head size parts autism into two major subtypes

by  /  12 September 2023

An imbalance in the number of excitatory neurons in early brain development may account for the difference.

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Portrait of Evdokia Anagnostou.

Evdokia Anagnostou and the concept of a good life

by  /  1 September 2023

The Holland Bloorview clinician and research director discusses how growing up on a small island shaped her career and the existential questions that keep her up at night.

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June 2023
Illustration of mitochondria as a kind of Stonehenge, with the shapes standing upright, casting shadows, against a blue sky.

Mitochondria mediate effects of PTEN mutations

by  /  26 June 2023

Whole-genome sequencing data — which include information about mitochondrial DNA — offer clues to why mutations in the same gene can lead to autism or cancer.

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Illustration of hybrid objects: part light bulb, part lab vial, some in blue and some in red to signify null and replicated results.

Null and Noteworthy: Modified MRI; father findings

by  /  22 June 2023

This month’s newsletter tackles null findings from an attempted replication of a “revolutionary” MRI approach and an analysis of family genetics.

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December 2022
Neural progenitor cells in a culture medium, color-enhanced scanning electron micrograph (SEM).

Autism subgroups converge on cell growth pathway

by  /  5 December 2022

Faulty mTOR signaling, implicated in syndromic forms of autism, also hinders cells grown from people with idiopathic autism or autism-linked deletions on chromosome 16.

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November 2022
Photograph of a parent crossing a city street with two children

A mix of common and rare variants shapes autism inheritance patterns

by  /  4 November 2022

The study also reveals a link between language development and common variants.

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August 2022
Conceptual illustration of a DNA double helix

Scans of sundry variant types uncover autism-linked genes

by  /  18 August 2022

Troves of sequencing data reveal genes tied to autism through different variant types, providing a more complete picture of the condition’s genetic roots and new clues to its heterogeneity.

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Mutations disrupting chromatin interactions contribute to autism

by  /  8 August 2022

The mutations occur spontaneously in noncoding stretches of DNA that control gene expression.

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July 2022
Figure in space heads towards unknown, dark area.

The final frontier: Autism geneticists take on the noncoding genome

by  /  12 July 2022

The vast stretches of DNA that don’t code for proteins could fill key knowledge gaps about autism genetics. But making sense of it all won’t be easy.

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