Page URL:

Whole genome sequencing promises improved autism genetics research

15 July 2013
Appeared in BioNews 713

Whole genome sequencing suggests that around half of all people with autism may be carriers of genes already associated with the condition.

Autism spectrum disorders (ASD) - a class of syndromes grouped by shared impairments in social communication - have so far eluded researchers' attempts at genetic characterisation, due in part to ASD's clinical diversity. Although family studies suggest a strong genetic dimension to ASD, prior studies only found genetic factors in 20 percent of patients, at most.

But early results (32 patients were included together with their families) from what researchers claim is the world's first large-scale autism study to sequence entire genomes, rather than just the regions that code for proteins, suggest that estimate is conservative.

Dr Steve Scherer, director of the Centre for Applied Genomics at The Hospital for Sick Children in Canada, told The Canadian Press: 'What we're saying is, based on this pilot study, if you take 100 new diagnoses of autism and we sequence in their genomes, in 50 percent [...] we would find a genetic variant that either explains their autism or some of the associated medical complications that come along with that'.

But Dr Scherer adds: 'We can't say we found in those individuals the cause of autism'.

Instead, this technique discovered both inherited and spontaneous mutations associated with ASD symptoms by comparing the genomes of ASD individuals to their parents'. To a burgeoning collection of over 100 known ASD risk genes, the researchers unearthed four new genes that appear related to ASD, and eight candidate genes. They corroborated a further ten genes put forward as candidates by other groups.

ASD is thought to arise biologically from variable combinations from a set of hundreds of risk genes, many of which most people with autism will not carry.

The Hospital for Sick Children, BGI-Shenzhen in China and Duke University in the USA ran the study as the pilot of an initiative championed by ASD charity and advocacy group Autism Speaks to sequence the genomes of 10,000 individuals with, or related to someone with, ASD.

The researchers hope to use whole genome sequencing to uncover more genes and, in doing so, clarify the causes of ASD.

Dr Robert Ring, Autism Speaks' chief science officer and study co-author, commented: 'From diagnosis to treatment to prevention, whole genome sequencing efforts like these hold the potential to fundamentally transform the future of medical care for people with autism'.
Autism Speaks collaborative releases first full genome sequencing for autism
EurekAlert! (press release) |  11 July 2013
Canadian-led team delves deep into genetic code of autistic individuals
Globe and Mail |  11 July 2013
Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing
The American Journal of Human Genetics |  11 July 2013
More genes linked to autism with advanced sequencing tool
CBC News |  11 July 2013
Researchers close in on better, faster ways to diagnose autism
Vancouver Sun |  11 July 2013
Tackling the Whole Autism Genome: Insights for Diagnosis and Care
Autism Speaks (press release) |  11 July 2013
Whole genome sequencing opens a new way for the diagnosis and medical therapy for autism
EurekAlert! (press release) |  11 July 2013
1 December 2014 - by Dr Ainsley Newson 
Geneticist Razib Khan's decision to obtain the whole genome sequence of his partner's fetus in utero shows us that genomics is no longer a fantasy. While it would be a mistake to use this one example to condemn the entire practice of whole genome sequencing prior to birth, I will suggest here why we should look before we leap...
17 March 2014 - by Chee Hoe Low 
Genome sequencing technology struggles to capture the complete genome accurately and reliably, a small study has found...
28 October 2013 - by Dr Lucy Freem 
A three-year joint project to sequence the genomes of 10,000 rare disease patients has been announced by the University of Cambridge, Genomics England and Illumina...
9 September 2013 - by Dr James Heather 
The US National Institutes of Health has unveiled plans to trial sequencing the DNA of newborn babies, to test if it could improve paediatric medical care...
10 June 2013 - by Siobhan Chan 
A large, complex gene network in people with autism has been identified by researchers at the University of Oxford...
29 April 2013 - by Dr Daniel Grimes 
A study on identical twins with distinct autistic traits suggests that epigenetic factors may be important in understanding how the neurological disorder develops...
25 March 2013 - by Matthew Thomas 
Men who father children later in life are more likely to have grandchildren with autism, according to research...
21 January 2013 - by Dr Victoria Burchell 
Rare genetic variants may have a significant impact on a person's risk of developing autism, research suggests...
to add a Comment.

By posting a comment you agree to abide by the BioNews terms and conditions

Syndicate this story - click here to enquire about using this story.