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Illustration of a woman holding a pencil over a map.

Familiar autism-linked genes emerge from first analysis of Latin American cohort

The findings, detailed in a January preprint, suggest autism’s fundamental biology is the same regardless of ancestry. But questions remain.

By Laura Dattaro
20 February 2025 | 5 min read
Illustration of an X chromosome against a black background.

X-chromosome variants help explain autism’s sex bias

The rare variants are also linked to ADHD and Tourette syndrome, two other conditions that disproportionately affect boys and men.

By Charles Q. Choi
24 October 2022 | 4 min read
Illustration of two chromosomes with copy number variants.

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

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

By Peter Hess
31 August 2022 | 4 min read
Conceptual illustration of a DNA double helix

Scans of sundry variant types uncover autism-linked genes

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.

By Chloe Williams
18 August 2022 | 7 min read
Young patient speaking to counselor.

Q&A with Brenda Finucane: Building pipelines for genetic tests for autism

Most autistic people do not receive the medically recommended genetic tests for autism. Brenda Finucane and her colleagues want to change that.

By Angie Voyles Askham
17 August 2021 | 6 min read
White lab mouse sitting in a gloved hand.

Notable papers in autism research, 2020

Gene therapies and the factors influencing autism traits top Spectrum’s list of the 10 most notable research findings we covered in 2020.

By Spectrum
23 December 2020 | 4 min read
Stylized DNA molecule

Mutations in the same exon linked to similar autism traits

People with autism who carry DNA variants in the same protein-coding region of a gene have more similar cognitive abilities and behaviors than those who carry mutations in different regions of the same gene.

By Giorgia Guglielmi
17 December 2020 | 5 min read
Cells transporting NCKAP1 protein in and out of nucleus

Rare variants tied to neuronal migration, autism traits

Many people with mutations in the NCKAP1 gene have autism or autism traits, according to a new study spanning seven countries.

By Angie Voyles Askham
4 December 2020 | 5 min read
Group of DNA helixes are seen on black

Analysis combining variants, conditions uncovers hundreds of neurodevelopmental genes

The first genetic analysis of multiple types of variants from people with autism or other neurodevelopmental conditions reveals hundreds of genes that may be linked to neurodevelopment.

By Laura Dattaro
2 November 2020 | 4 min read

Reactions from ASHG 2020

Get the inside scoop from the 2020 American Society of Human Genetics annual meeting.

By Laura Dattaro
30 October 2020 | 8 min read

Explore more from The Transmitter

People help each other climb up a supersized human brain.

As federal funders desert mentorship programs for marginalized students, trainee-led initiatives fill the gap

Grassroots organizations, led by graduate students and postdoctoral researchers, are stepping up to provide neuroscience career training and guidance for students from marginalized backgrounds—and they need your support.

By Christian Cazares, Maribel Patiño
11 April 2025 | 5 min read
Research image of two mouse brain slices.

Split gene therapy delivers promise in mice modeling Dravet syndrome

The new approach overcomes viral packaging limitations by delivering SCN1A piecemeal and stitching it together in target cells.

By Holly Barker
10 April 2025 | 5 min read
Screenshot of NeMO website with banner reading This repository is under review for potential modification in compliance with Administration directives.

U.S. human data repositories ‘under review’ for gender identity descriptors

Researchers associated with the repositories received an email from the U.S. National Institutes of Health in March noting that they must comply with a 20 January executive order from President Trump that recognizes only two sexes: male and female.

By Angie Voyles Askham
9 April 2025 | 4 min read