Subscribe to Here’s the Deal, our politics newsletter for analysis you won’t find anywhere else.
Thank you. Please check your inbox to confirm.
Leave your feedback
Scientists have long known that genetics play a role in autism, but now they may be able to actually pinpoint the specific gene variants, which could help doctors diagnose and treat the neurodevelopmental disorder from birth. Special correspondent Jackie Judd explores a project from Autism Speaks and Google that harnesses a powerful search engine to find new answers.
One in every 68 children in the U.S. is diagnosed as being on the autism spectrum. It's long been known that genetics plays a role in the neurodevelopmental disorder.
Now scientists believe they have the tools to identify which gene variants trigger autism and with that information diagnose and treat it much earlier. A project called MSSNG has brought together an unusual partnership and is giving hope to affected families.
Special correspondent Jackie Judd reports.
What's the highest you can go?
In the cloud, he is known only by eight digits, attached to a map of his DNA.
Oh, you can go high.
On the ground, at his home outside of Toronto, Jonathan Wilson is known as a bright and sometimes aggressive 14-year old.
LISA WILSON, Mother of Jonathan Wilson: From day one — and, literally, I mean day one — he was very different from my other newborns.
BLAIR WILSON, Father of Jonathan Wilson: I remember, with the other children, I would hold them over my shoulder and cuddle with them. And John would just arch his back, wouldn't want to be — wouldn't want to be held.
It wasn't until Jonathan was almost 3 that he was diagnosed with autism. That was based on what doctors could observe, his behavior and the absence of typical developmental milestones. JONATHAN WILSON, Autistic: It's hard for me to know when to speak, hard to communicate. BLAIR WILSON: Watch where you're shooting. But it was only recently that Lisa and Blair Wilson learned, with great precision, why their son is autistic: a spontaneous genetic mutation on chromosome 16.
I got the phone call, and it stopped me in my tracks, and I called Blair at work, and I immediately burst into tears, and I said, this changes everything and nothing. Nothing changes about how we live our lives, but he now is able to say, definitively; I have autism. I was born with it. It's genetic.
These machines actually are able to sequence millions and millions of DNA fragments. JACKIE JUDD: The call came from researchers here at Toronto's Hospital for Sick Children, which is a partner in a pioneering project to identify genetic variants responsible for autism.
Jonathan, his parents and his three brothers all had their entire DNA mapped or sequenced, so researchers could see the most minute deletions or duplications.
DR. STEPHEN SCHERER, Toronto Hospital for Sick Children: Every time a new genome comes in, we can run a dynamic kind of reassessment.
Dr. Stephen Scherer, whose team reviewed Jonathan's genome, is one of the world's leading geneticists.
DR. STEPHEN SCHERER:
Now we have the capability to do the ideal experiment, and that is to sequence the entire genome, the entire complement of DNA of all of these families, and decode the underpinnings of autism.
And, from that, diagnose and treat autism possibly from birth, as well as identify other health problems often associated with the disorder.
Autism Speaks began the MSSNG project with the audacious goal of completing the DNA mapping of 10,000 people affected by autism and then making that information widely available in a single place.
Rob Ring is the advocacy organization's chief science officer.
ROB RING, Chief Science Officer, Autism Speaks:
In that database will be families, individuals touched by autism, their siblings, parents, all their genomes. That is a massive data set.
It's huge. It's the equivalent of a — watching a high-definition TV show streaming continuously for 13.5 years.
Autism Speaks had the will and the resources, $50 million, to undertake the project. The Hospital for Sick Children had the expertise to map an individual's DNA, which now costs only $1,000 and takes only a couple of weeks to go from blood sample to complete gene mapping.
What to do with that massive amount of data being generated led them to a third partner not known for its work in genetics. It led them to Google. Most consumers know Google as the go-to search engine to sort information about everyday things, like restaurant rankings or weather patterns.
For the MSSNG project, Google stores participants' genomes in the cloud and then applies its vast analytic power to questions from researchers.
DAVID GLAZER, Google Genomics:
To date, this is the biggest.
David Glazer heads Google's growing genomics division.
What we realized a couple years ago is that the world of biology has started to generate a lot more information than they historically had tools to work with.
And that's what we at Google are really good at, is taking large amounts of information and finding the value in that information. What we're doing with the MSSNG project is saying, you guys are generating and gathering, from all the volunteer families, this really valuable set of information. Let us help make that information as valuable as possible.
So far, 76 researchers from six countries, exploring the causes of autism, including environmental factors, have gained entry to the new portal. And they are posing questions that only powerful search engines could process.
We had to build tools that could work with data sets that were trillions of rows of information. That's trillions with a T. That tool is good at working with lots and lots of information and finding patterns in an interactive way.
Right away, we get some information that helps in developing new diagnostic tests. And, secondly, we can think about new medicines. This is the problem right now. The challenge is, for the core features of autism, there's no effective medical treatment.
The researchers applying for entry to the DNA library in the cloud pay nothing if approved. That is unique in a field where access to data can be closely guarded and expensive.
Our central thesis, if you will, around MSSNG was, the more eyes we can get on a data set like that, the greater the probability that discoveries are going to be made, discoveries that have the potential to transform how we think about autism, how we diagnose it, and ultimately how we treat it.
The optimism of MSSNG's founders about the potential for unlimited discovery is apparent. And they believe that what works for autism may work for any number of other diseases.
They will all build on each other, and the success of one will help all.
In fact, Google already is exploring a project in the cancer field.
The model is in the pattern of how to take this kind of information and allow scientists to ask the kinds of questions they want. There are thousands of very rare diseases that would benefit from having a deeper genomic understanding of their condition.
Lisa and Blair Wilson hope their contributions to MSSNG spare other parents some of the anguish they experienced when they knew that something was wrong with their little boy, just not what.
I think starting intervention at age 3 was very late, compared to how early our concerns began about him. And if we could have intervened earlier in the trajectory of his development, we could have influenced it sooner. BLAIR WILSON: And I think that would have really helped him along his journey. JACKIE JUDD: So far, MSSNG has put the genomes of 2,300 people in the cloud, and all 10,000 are expected to be up by next spring, among them, the complicated map of a Canadian teenager with the simple hope of one day living an independent life filled with family and friends.
For the PBS NewsHour, this is Jackie Judd in Toronto.
Watch the Full Episode
Support Provided By:
Additional Support Provided By: