Exome

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
Spectrum Microphone

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
Spectrum Microphone

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
Spectrum Microphone

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
Spectrum Microphone

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
Fat in bloodstream visualized as yellow balls, floating near blood cells, macro view.

Blood lipid levels may be altered in some autistic people

About 6.5 percent of autistic people in the United States also have dyslipidemia, a condition characterized by abnormal lipids levels in the blood.

By Jonathan Moens
10 August 2020 | 4 min read

Explore more from The Transmitter

A marble bust of a face that is covered in real leaves.

Newly found circuit through visual cortex powers first look at faces

The superior colliculus, an evolutionarily ancient brain area responsible for eye movements, responds to faces before the canonical face areas do, a study of macaque monkeys suggests.

By Olivia Gieger
19 July 2024 | 5 min read

Brain organoid size matches intensity of social problems in autistic people

Overgrown organoids could point to mechanisms underlying profound autism.

By Holly Barker
18 July 2024 | 5 min read

Persistent protein pairing enables memories to last

The complex of two memory proteins, rather than the individual molecules acting independently, underlie month-long memories in mice, a new study suggests.

By Elissa Welle
17 July 2024 | 5 min read