Rare variants

Recent articles

Stock illustration of strands of DNA with mutations.

Number of autism-linked genes more than triples in new analyses

In addition to a new preprint that expands the list of genes tied to the condition, two related analyses reveal how variants in those genes contribute to genetic susceptibility.

By Holly Barker
8 October 2026 | 6 min read
Researchers looking at KEMRI biobank vials.

NeuroDev study maps previously unseen genetic variation in Africa

The project is helping to fill critical gaps in the genetic underpinnings of autism and other neurodevelopmental conditions.

By Brianna Abbott
25 June 2026 | 5 min read
Data visualization from a genome-wide association study.

Revised statistical bar extracts less-common variants from autism genetics studies

Adjusting genetic analyses could help plug autism’s heritability gap, according to a new preprint.

By Holly Barker
12 March 2026 | 4 min read
Crowd seen from above.

Common and rare variants shape distinct genetic architecture of autism in African Americans

Certain gene variants may have greater weight in determining autism likelihood for some populations, a new study shows.

By Laura Dattaro
15 January 2026 | 5 min read
Research image of gene expression.

Sequencing study spotlights tight web of genes tied to autism

The findings, shared in a preprint, help to illuminate how a large and heterogeneous group of genes could be involved in autism.

By Katie Moisse
13 March 2025 | 5 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
Research image of frog cells.

Many autism-linked proteins influence hair-like cilia on human brain cells

The finding may help explain autism’s association with multiple co-occurring conditions that involve cilia defects.

By Charles Q. Choi
9 January 2025 | 4 min read
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
Stock photograph of a women and her young child at a clinician’s office.

A genetics-first clinic for catching developmental conditions early: Q&A with Jacob Vorstman

A new clinic is assessing children who have a genetic predisposition for autism and other neurodevelopmental conditions—sometimes before traits appear.

By Lauren Schenkman
15 August 2024 | 7 min read
Research illustration groups genes by their effects on brain cell types.

Giant analysis reveals how autism-linked genes affect brain cell types

Genes that predispose people to autism account for a large portion of the neuronal and glial cell changes seen in those with the condition.

By Charles Q. Choi
20 June 2024 | 5 min read

Explore more from The Transmitter

Image showing duplicated data.

University probe leads to retraction of four neural tube studies

The University of Maryland conducted an internal investigation that identified image duplications and other data integrity issues in the studies, according to the retraction notices.

By Claudia López Lloreda
16 October 2026 | 6 min read
Illustration of five purple rectangles arranged three-dimensionally like folders on a black background with a pattern of white dots and white plus signs.

Highly cited autism paper earns expression of concern over data duplications

The notice, published in Nature last week, also addressed an image duplication identified by a prominent research-integrity sleuth.

By Madeline Shaw
16 October 2026 | 4 min read
Illustration of pixellated MRI scans morphing into the scales of justice.

Govern neurodata by how it’s used, not where it’s from

New neurodata laws will shape how researchers gather, share and reuse brain data. A use-based governance protects basic researchers and those whose data are being used, without freezing science.

By José M. Muñoz
16 October 2026 | 7 min read