Simons Simplex Collection

Genome structure could be key factor in some forms of autism

Variants in DNA stretches that do not code for proteins may alter the genome’s 3D architecture, influencing the expression of distant genes linked to autism.

By Giorgia Guglielmi
28 March 2024 | 4 min read
Blurry photograph of a crowd of people on a street.

Some who lack autism diagnosis carry variants tied to the condition

The variants are associated with slight differences in measures of intelligence, income and employment, but the relationship may not be causal.

By Charles Q. Choi
13 July 2023 | 4 min read
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

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

By Emily Harris
22 June 2023 | 4 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
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
Spectrum Microphone

Mutations disrupting chromatin interactions contribute to autism

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

By Giorgia Guglielmi
8 August 2022 | 5 min read
Figure in space heads towards unknown, dark area.
Spectrum Microphone

The final frontier: Autism geneticists take on the noncoding genome

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.

By Laura Dattaro
12 July 2022 | 7 min read
Illustration of two figures in a field of black circles representing genetic risks. The circles surround the figure on the left and stay farther away from the figure on the right.
Spectrum Microphone

Common inherited variants tied to autism show sex bias in families

Siblings of autistic females are more likely to have autism than siblings of autistic males are, and mothers of autistic children carry more common, autism-linked variants than fathers do.

By Chloe Williams
23 June 2022 | 6 min read
A street crowded with pedestrian traffic
Spectrum Microphone

Spectrum of variants contribute differently to autism traits

Different combinations of common, rare, inherited and spontaneous mutations may explain why traits vary so widely among autistic people.

By Laura Dattaro
3 June 2022 | 5 min read
Three views of zebrafish.

Novel gene linked to brain size in autistic people

The gene, YTHDF2, may be one of several that contribute to an autism subtype marked by an unusually big brain.

By Laura Dattaro
16 May 2022 | 2 min read

Explore more from The Transmitter

Research image of neurons in the fly’s ventral nerve cord.

New connectomes fly beyond the brain

Researchers are mapping the neurons in Drosophila’s ventral nerve cord, where the central nervous system meets the rest of the body.

By Laura Dattaro
26 July 2024 | 7 min read
Illustration of researchers talking to laypeople amidst strands of DNA.

Building an autism research registry: Q&A with Tony Charman

A purpose-built database of participants who have shared genomic and behavioral data could give clinical trials a boost, Charman says.

By Cathleen O’Grady
25 July 2024 | 8 min read

Cerebellar circuit may convert expected pain relief into real thing

The newly identified circuit taps into the brain’s opioid system to provide a top-down form of pain relief.

By Angie Voyles Askham
24 July 2024 | 6 min read