Simons Simplex Collection

Recent articles

Illustration of hands sewing red and white threads in a DNA-like pattern into a blue-gray fabric.

Untangling biological threads from autism’s phenotypic patchwork reveals four core subtypes

People belonging to the same subtype share genetic variants, behaviors and often co-occurring diagnoses, according to a new preprint.

By Holly Barker
3 October 2024 | 5 min read

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

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

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.

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.

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 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

Explore more from The Transmitter

Colorful illustration of a latticework of proteins.

Cracking the code of the extracellular matrix

Despite evidence for a role in plasticity and other crucial functions, many neuroscientists still view these proteins as “brain goop.” The field needs technical advances and a shift in scientific thinking to move beyond this outdated perspective.

By Anna Victoria Molofsky
17 January 2025 | 5 min read
A repeated DNA strand extends farther from the left side of the image with each iteration.

Huntington’s disease gene variants past a certain size poison select cells

The findings—providing “the next step in the whole pathway”—help explain the disease’s late onset and offer hope that it has an extended therapeutic window.

By Angie Voyles Askham
16 January 2025 | 6 min read
Research image highlighting different brain regions.

X marks the spot in search for autism variants

Genetic variants on the X chromosome, including those in the gene DDX53, contribute to autism’s gender imbalance, two new studies suggest.

By Holly Barker
16 January 2025 | 6 min read