Rare variants

Recent articles

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

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
Research image of organoids in the forebrain.

Head size parts autism into two major subtypes

An imbalance in the number of excitatory neurons in early brain development may account for the difference.

By Charles Q. Choi
12 September 2023 | 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
A couple drinks tea at a café.

Partner selection may amplify rare variants in children

Nonrandom mating — the propensity for people to partner with others who share their traits — can increase the likelihood of autism or other conditions across generations.

By Calli McMurray
6 July 2023 | 5 min read
Composite research image of organoids at several stages of development.

Genetic background sways effects of autism-linked mutation

Experiments offer clues to why certain mutations are associated with autism in some people and not others.

By Charles Q. Choi
18 May 2023 | 4 min read
Illustration of a room with DNA sequence wallpaper and three doors leading to abstract new environments.

The future of autism therapies: A conversation with Lilia Iakoucheva and Derek Hong

If a therapy for autism’s core traits makes it to market, it will likely take one of three forms, the researchers say.

By Peter Hess
14 April 2023 | 5 min read

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David Krakauer reflects on the foundations and future of complexity science

In his book “The Complex World,” Krakauer explores how complexity science developed, from its early roots to the four pillars that now define it—entropy, evolution, dynamics and computation.

By Paul Middlebrooks
14 January 2025 | 106 min listen
Research image showing white matter volume in a child with Angelman syndrome compared with a child without the condition.

White-matter changes; lipids and neuronal migration; dementia

Here is a roundup of autism-related news and research spotted around the web for the week of 13 January.

By Jill Adams
14 January 2025 | 2 min read
Three sleeping mice.

Fleeting sleep interruptions may help brain reset

Brief, seconds-long microarousals during deep sleep “ride on the wave” of locus coeruleus activity in mice and correlate with periods of waste clearing and memory consolidation, new research suggests.

By Shaena Montanari
13 January 2025 | 5 min read