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Spectrum: Autism Research News

Tag: sequencing

October 2023
Research image of cerebral organoids.

Method pinpoints cell-specific effects of autism-linked mutations

by  /  3 October 2023

The approach, which combines CRISPR with single-cell analyses of organoids, suggests that intermediate progenitor cells are especially vulnerable to mutations associated with autism.

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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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A brain slice under a microscope.

Preprint questions validity of postmortem brain studies

by  /  5 June 2023

But the alternatives, including living-brain biopsies, raise logistical and ethical questions, experts say.

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April 2023
Research diagram of gene clusters.

Atlas of gene activity in prenatal brain holds clues to autism

by  /  24 April 2023

Genes exert their strongest influence on the brain in the first half of gestation — a key window for autism and other neurodevelopmental conditions.

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March 2023
Image of scientists working in a lab.

African genetics study NeuroDev shares initial findings

by  /  15 March 2023

The most comprehensive study of neurodevelopmental conditions in Kenya and South Africa ever conducted shares preliminary results and lessons.

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February 2023
Illustration of neurons.

Chromatin remodeling tied to altered splicing in autism model

by  /  7 February 2023

Exposing neurons to valproic acid, a well-known environmental risk factor for autism, disrupts their ability to generate different proteins from the same gene.

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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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September 2022
Human silhouettes are seen against a colorful, abstract representation of a genetic sequence.

How geneticists can gain greater buy-in from the autistic community

by  /  9 September 2022

My recommendations aim to foster a collaborative relationship between researchers and the Autistic community, resulting in an increase in the availability of genetic data.

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August 2022
Illustration of two chromosomes with copy number variants.

‘Dosage sensitivity map’ predicts active ingredients in copy number variants

by  /  31 August 2022

The catalog of rare copy number variants tied to autism and other conditions could help researchers identify which genes account for the mutations’ effects.

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