The genetics of autism

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Illustration showing large group of people in a shape suggestive of a GWAS visual, connected to a pertri dish. The image is suggestive of large scale genetics research.

From 0 to 60 in 10 years

After a decade of fast-paced discovery, researchers are racing toward bigger datasets, more genes and a deeper understanding of the biology of autism.

By Simon Makin
27 June 2017 | 15 min read

Family groups play key role in advancing autism research

Families need more support from researchers in order for their heroic efforts to be optimally effective.

By Stephan J. Sanders
27 June 2017 | 6 min read

The interplay of common, rare variation in autism

Autism researchers should ditch the false dichotomy between common inherited variants and much rarer random mutations.

By Mark Daly
27 June 2017 | 7 min read
DNA helix inside the human body

Autism genetics, explained

The more scientists dig into DNA, the more intricate its contribution to autism seems to be. Here, we unravel the complex genetics of autism.

By Nicholette Zeliadt
28 May 2021 | 5 min read
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Autism genetics: The movie

The secret to understanding autism lies largely in our DNA.

By Spectrum
27 June 2017 | 3 min watch

In race to crack autism’s code, two contenders shoot ahead

Two candidate genes have risen to the top, and may help scientists understand what autism really is.

By Jessica Wright
27 June 2017 | 6 min read

Burning debate: What’s the best way to nab real autism genes?

How to best use a large volume of data to discover new genetic risk factors for autism is a matter of intense debate, particularly in light of historical challenges.

By Brian O’Roak
27 June 2017 | 9 min read

Whole genomes may hold clues to autism, but patience is key

We finally have access to whole-genome sequences from people with autism. But before we can properly interpret these data, we need to know what we're looking for.

By Bernie Devlin, Michael Talkowski
27 June 2017 | 5 min read

Genome’s ‘dark’ side steps into spotlight of autism research

RNA segments that control when and where genes are expressed may be involved in autism.

By Nicholette Zeliadt
27 June 2017 | 6 min read
Autism correspondents Raphael Bernier and James Mancini look fly in a pair of sunglasses.

Inside Scoop From the Autism Anchors: Special report on genetics

Two scientists describe the critical role families have played in advancing research in autism genetics.

By Spectrum
27 June 2017 | 1 min read

Why it’s time to spin autism genes into drug screens

Autism researchers’ top priority should be shifting their focus to finding treatments for severe forms of the condition.

By Guy Rouleau
27 June 2017 | 5 min read

Genetics for poets

Where do we stand in our understanding of autism genetics — and what major questions remain? A molecular biologist supplies answers in stanzas.

By Michael Wigler
27 June 2017 | 1 min read

Chemical tags reveal interplay of genes, environment in autism

The landscape of chemical modifications on the DNA of people with autism could reveal clues to the condition and lead to treatments.

By Janine LaSalle
20 June 2017 | 5 min read

New tools strengthen old link between autism, mitochondria

Variants of some mitochondrial genes may contribute to autism — in some cases, by teaming up with genes in the nucleus.

By Zoran Brkanac
30 May 2017 | 5 min read
Spectrum stories podcast logo.

Spectrum Stories: The role of genetics in autism

We know that genes play a role in the condition; however, finding genes, and then knowing what they do is a challenge.

By Lisa Cantrell
27 June 2017 | 1 min read

From the archives

What makes a gene an autism candidate? Not everyone agrees

Whether a gene should be considered a ‘novel candidate’ for autism depends not just on whether it’s been linked to the condition before, but on the strength of that link.

By Cassandra Willyard
11 May 2017 | 5 min read

Complex gene interactions in autism offer avenues for treatment

Teasing out how genes interact can offer clues to autism’s causes and point to treatment targets.

By Lauren Weiss
23 May 2017 | 6 min read

Tangled web of proteins holds clues to autism’s complexity

Understanding how mutations in genes linked to autism perturb the different versions of proteins the genes form could reveal new targets for treatments.

By Lilia Iakoucheva
28 February 2017 | 5 min read

Analyses of gene activity may yield clues to roots of autism

Network analyses of gene expression patterns may point to key molecular pathways that autism alters and suggest new ways of treating the condition.

By Dan Arking, Shannon Ellis
28 June 2016 | 5 min read
Photograph of a large crowd of people.

Analysis winnows list of mutations tied to autism

As many as one in three rare mutations seen in people with autism may have nothing to do with the condition.

By Bahar Gholipour
6 April 2017 | 4 min read

Genetics first: A fresh take on autism’s diversity

Each child with autism is different from the next. One approach rapidly gaining momentum makes sense of this diversity by grouping children together based on their genetics, then looking for patterns in their symptoms. The long-term aim: personalized treatments for each subtype of autism.

By Sarah DeWeerdt
24 November 2014 | 16 min read
A surreal portrait of doctors walking out on vibrant tree-limbs, as it were. This represents doctors exploring novel pathways in cancer research.

The curious connection between autism and cancer

A surprising number of genes associated with autism also have links to cancer. Does that mean cancer drugs can treat autism?

By Alisa Opar
11 January 2017 | 20 min read

Questions for Thomas Bourgeron: In search of ‘second hits’

Taking a close look at people who have a mutation in a known autism gene may reveal why these people often have vastly different characteristics.

By Jessica Wright
1 March 2016 | 6 min read

Web of genes may hold clues for autism treatments

Many of the genes that have emerged as the strongest autism candidates have turned out to regulate the expression of hundreds, if not thousands, of other genes. Within these networks, scientists are homing in on pathways that underlie autism.

By Jessica Wright
20 October 2014 | 7 min read

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Still image of Paul Middlebrooks in conversation with Cristina Savin, Tim Vogels, Gaute Einevoll and Mikel Lepperød.

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Two surreal heads touch each other’s faces.

The case for redefining ‘theory of mind’: Q&A with François Quesque

In a new commentary, Quesque and 44 experts in neuroscience and psychology propose a standardized lexicon for research on the attribution of mental states.

By Lauren Schenkman
10 October 2024 | 7 min read