Rare or common, inherited or spontaneous, mutations form the core of autism risk.

A series of 3D mouse brains

Mouse models pinpoint effects of top autism gene

by  /  18 February 2019
Two independent sets of mice missing a copy of SETD5, a top autism gene, link the gene to the condition's traits.
RNA molecules illustration

‘Editing’ of RNA may play sizeable role in autism

by  /  14 February 2019
People with autism may show scant activity in a poorly understood molecular process thought to regulate gene expression.
Features / Deep Dive
Gabin and his father at home in Paris.

Europe’s race to ramp up genetic tests for autism

by  /  13 February 2019
Many countries in Europe are reckoning with the growing demand for genetic tests for autistic people — and the accompanying ethical and scientific considerations.
February 2019

Analysis pinpoints genes linked to autism, developmental delay

by  /  6 February 2019

An analysis of spontaneous mutations in nearly 11,000 individuals with developmental delay or autism implicates 49 new genes.

"crystal ball" of genetic prediction
Opinion / Viewpoint

Genetic risk ‘scores’ may help forecast autism diagnosis

by  /  5 February 2019

A count of genetic variants may help predict a person’s risk of various conditions — but its clinical use prompts ethical questions.

January 2019
Features / Deep Dive

Revelando los secretos del síndrome X frágil en Colombia

by  /  31 January 2019

Una remota ciudad colombiana es el hogar del grupo más grande de personas con síndrome de X frágil. Los científicos están aprendiendo de ellos y tratando de ayudar.

James at his home in Salt Lake City
Features / Deep Dive

Why genetic tests matter for autistic people

by  /  30 January 2019

Genetic tests for people with autism are far from routine and don’t always yield results, but the information they offer can change lives.

illustration shows woman under umbrella, with genes falling like rain
Opinion / Viewpoint

Expliquer la résilience à l’autisme peut faire naître de nouvelles thérapies

by  /  18 January 2019

An analysis of spontaneous mutations in nearly 11,000 individuals with developmental delay or autism implicates 253 genes in one or both conditions; 49 of the genes are new candidates1. The study pools data from individuals with either diagnosis — an approach that increases the numbers, and strengthens the validity of the associations. “In terms of […]

Portrait of Ivan Iossifov
Multimedia / Webinars

Webinar: Ivan Iossifov discusses genetic variants linked to autism traits

27 February 2019

Register for the next Spectrum webinar, featuring Ivan Iossifov, who will explore the genetic basis of autism’s core features.


CRISPR studies hint at cell pathways involved in autism

by  /  7 January 2019

A variety of genetic risk factors for autism may disrupt some of the same processes in cells.

December 2018
DNA helix shows blue spots as mutations.
Features / Special Reports / 2018: Year in Review

Five hot topics in autism research in 2018

21 December 2018

This year, researchers made big headway on autism’s most perplexing questions.

whimsical machine takes in various data and spits out an organized version on the other end
Features / Special Reports / 2018: Year in Review

Notable papers in autism research in 2018

21 December 2018

This year’s list of top papers highlights new dimensions in our understanding of autism genetics and hints at novel treatments.

Brain images
News / Toolbox

Large U.K. database reveals links between genes and brain function

by  /  21 December 2018

A newly expanded database of information from people in the United Kingdom provides a detailed picture of genetic diversity.