Autism Study Speaks: And the findings aren't even the most curious part

Siblings with autism don’t share the same genetic variations according to a new study in Nature Medicine. When researchers looked at about 100 genetic mutations associated with autism, they found that only 30% of the 85 sibling pairs shared the same mutation. Those with the same mutation also shared similar behaviors.

Yes, this research signifies the complexity underlying autism. Yes it shows genetic mapping hasn’t turned out any quick answers or cures. Don’t forget, those 100 genetic mutations have only been found in a small percentage of autistic children and thus account for only a sliver of cases. Yes, the study shows that sometimes research results are somewhat surprising (contrary to the researcher tendency to call even mundane results surprising).

This research is notable for several others reasons. Like it’s benefactors, the money behind the data:

The report is the first major finding from a large-scale collaboration financed by Autism Speaks, an advocacy group, and based at the University of Toronto and the Hospital for Sick Children. The researchers are analyzing genetic material from a registry of more than 2,800 families who have at least one child with a diagnosis. The registry, funded by both the National Institutes of Health and Autism Speaks and managed by Autism Speaks, includes comprehensive medical and behavioral histories and is the largest of its kind. New York Times

Autism Speaks, the org that long championed the link between autism and vaccines, namely the MMR.

It was just in 2009 that Autism Speaks senior executive and board member Alison Singer resigned over the organization’s belief that vaccines caused autism and their continued funding of vaccine safety research. And no, the mainstream media didn’t mention any of that in reporting the latest study or the fact that by 2010, Autism Speaks spent $18 million on studies (reported in The Daily Beast.) By 2013, an announcement on the AS website reports spending a whole lot more on research:

To date, Autism Speaks has committed more than $195 million for research projects that advance understanding of the causes, prevention and treatment of autism spectrum disorders (ASD). The latest round of grants, chosen from 136 proposals, includes the following….(peruse at your own leisure). Autism Speaks

After I performed a simple search on the directory of research grants using the term “vaccines” two researchers popped up. True, the grants totaling $1 million originated in 2008 and 2009 but are they still funded? Given Singer’s departure over the continued funding, there must be more money going in that direction. I spent just a few minutes on their website.

Several question arise.

How much moola goes to further investigating vaccines? Better yet, how do the goals and beliefs of Autism Speaks (i.e. exposing a link between autism and vaccines) influence the direction of research? Do they influence their management of the registry of families with autistic children? Should they be in charge of this large store of knowledge?

Here’s another remarkable part of the study:

In a first, the study coordinators, working with Google, published the data and analysis tools online, in a cloud-based format available to any user. In previous genetic studies, it has typically taken researchers months or years to make their data available, if they do so at all, Dr. Scherer said. Autism specialists said that the study findings were a welcome confirmation of a common observation. “After you get over the surprise and think about it, we all know that the kids are different in these families,” Dr. Tager-Flusberg said. New York Times

This is good news. Transparency is a welcome development indeed if not as momentous an event as lead researcher portends:

“This is a historic day,” says study leader Stephen Scherer, “as it marks the first time whole genome sequences for autism will be available for research on the MSSNG open-science database. This is an exemplar for a future when open-access genomics will lead to personalized treatments for many developmental and medical disorders.” In addition to leading Autism Speaks’ MSSNG program, Dr. Scherer directs the Centre for Applied Genomics at Toronto’s Hospital for Sick Children and the McLaughlin Centre at the University of Toronto. Science Daily

Exemplar. Open-acess genomics. Personalized treatments for many developmental and medical disorders.

Okay, sure, we get it, you’re excited (if not still a bit surprised that the results did not pan out as hypothesized). Ignore for the moment that the actual results suggest treatment based on genetic risks appear a long way off. Focus instead on the fact this is the largest-ever autism gene study according to Science Daily and of course Autism Speaks. Largest ever.

Changing the future of autism with open science.

I wonder if all the Autism Speaks data will be open to the public in the future? Available to any user. Note: “researchers” must request access here. Have at it all you data geeks.