Monthly Archives: January 2015

Less than a third of siblings with autism shared the same DNA mutations in genes associated with the disorder, according to a new study that is the largest whole-genome sequencing for autism to date.

Canadian researchers sequenced whole genomes from 170 siblings with autism spectrum disorder and both their parents. They found that these sibling pairs shared the same autism-relevant gene variations only about 31% of the time, according to the study published online Monday in the journal Nature Medicine.

More than a third of the mutations believed to be relevant to autism arose in a seemingly random way, the study also found.

It isnt really autism; its autisms, said the studys lead investigator, Dr. Stephen W. Scherer, head of the Center for Applied Genomics, Genetics and Genome Biology at the Hospital for Sick Children in Toronto. In some cases, he added, its like lightning striking twice in the same family.

The results are part of 1,000 whole genomes that are being made available to researchers via a massive Google database that autism advocates hope will grow to 10 times that size by next year.

The effort, spearheaded by the research and advocacy group Autism Speaks, has been somewhat controversial from the start, with some questioning whether results from the relatively costly and time-consuming process will be too complicated or obscure to yield significant breakthroughs.

Indeed, researchers associated with the effort acknowledged that much of their data remain a mysterious ocean of jumbled, deleted or inserted DNA code, much of which is not located on areas of the genome that program the proteins that directly affect biological functions.

You might expect that youd see some commonalities in the mutations between kids in the same family, but thats actually not the case here, said Rob Ring, chief science officer of Autism Speaks. Were not really sure what might explain that at this time.

Said Scherer: Weve really just scratched the surface of this data.

Thats where Googles cloud-based data capabilities will come in, according to Ring and Scherer. Making these whole genomes potentially 10,000 of them available to any researcher could yield unexpected connections and order in data thatare the equivalent of more than 13 years of streaming high-definition television programming.

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Autism genomes add to disorder's mystery

Scientists are leveraging cloud services provided by Google and other companies to streamline and share massive amounts of data generated by sequencing the human genome. The hope is that the increased power and speed of cloud services will accelerate research and increase opportunities for advances in medicine and other fields.

For example, a thousand genomes of people who fall within the autism spectrum were uploaded to Googles servers Monday as part of a new projectsponsored by the nonprofit Autism Speaks.

The data dump represents the first of 10,000 genomes that will eventually be stored in the companys cloud and shared among autism specialists. The funders of the project, known as Mssng, hope researchers will use the trove of genomes to enable earlier diagnosis, develop targeted treatments or even find a cure for the disorder thought to have at least some basis in genetics.

Mssng is the latest in a series of genome-based projects that use cloud storage technology to advance science. Through these initiatives, cloud storage technology has proven to be a boon for both companies and scientists. Worldwide, cloud services make up a $45.7 billion industry,according to analystsat International Data Corp. Google has welcomed researchers by creating theGoogle Genomicsplatform to allow for easy upload, storage and sharing of genomic data and theCompute EngineandBigQuerytools for quick analysis.

Cloud storage has been used in other genomic research. One such project is called Chargeand is run by Baylor College of Medicine in conjunction with Amazon and a company called DNAnexus. The project resulted in 3,751 genomes being analyzed to study heart disease and aging. In a similar venture, IBM and the New York Genome Center recentlyentered into a partnershipto leverage Watsons smart computing software for genomic research.

This first upload by Mssng of autistic genomes to Google was also part of a study published Monday by Nature Medicine that analyzed the genomes of siblings for clues about how genetics influences the disorders development. The results showed that a brother and sister who both have autism do not necessarily share the same autism-linked genes from their parents, according to a statement provided by Autism Speaks. Researchers already knew that parents of a child with autism are more likely to have a second child who is affected, and that even identical twins do not always exhibit the same type of autism.

Mssngs developers hope this new data paired with cloud-based analytical tools will help researchers learn more about the inheritability of autism, which affects one in 68 children in the U.S., according to a blog post written by Robert Ring, chief science officer at Autism Speaks, when the project was announced.

Google may hold other interests in furthering genomic study. Two years ago it started a health care company called Calico that is partnering with drug company AbbVie to build a $1.5 billion research facility in the San Francisco Bay area to seek ways to extend longevity, according to the San Jose Mercury News. The team could look for solutions that engineer or make repairs to parts of the genome. Last year, the company joined Merck & Co. and Amgen as members of the Global Alliance for Genomics and Health, a health consortium focused on developing medicine based in genomics.

Genomic data has been highly prized since it was made possible by DNA sequencing techniques in the late 1970s. In 2003, the Human Genome Project gave geneticists a map of all the genetic variety that exists within humankind. Sequencing a genome in the early days, though, could cost as much as $100,000,according to Nature. Costs have since come down to about $5,000 per genome and set off an explosion of data within the field. In the past, server capacity and analytical tools have placed limits on how much of this data was used or shared.

"In the beginning, we shared genomic information by shipping hard drives around the world, Ring wrote in his blog post. Downloading even one individual's whole genome in a conventional manner can take hours the equivalent of downloading a hundred feature films.

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Google Cloud Hosts 1,000 Genomes Uploaded By Autism Researchers, Advancing Science Through Data Storage