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Calls to Action

Calling All Families: Groundbreaking Study Seeks 3,000 Participants from Across the U.S.

May 27, 2009

Families are the cornerstone of all clinical research. Without their participation, research to determine the causes, treatments and cures for autism would never move forward. Now, the recipients of a recently awarded Autism Speaks grant are calling on all families to participate in a vital and innovative study, "Pilot project to assess web-based family recruitment for autism genetics studies." Funded by a special grant as part of its High Risk-High Impact initiative, the study seeks to double the number of genetic samples available to autism researchers in just one year by collaborating with families through the internet.

Researchers from UCLA, Washington University, and the Kennedy Krieger Institute hope to have as many new families as possible join the Interactive Autism Network (IAN) – a web-based autism research effort that has already collected data from thousands of families – to prove that online family-researcher collaboration can increase the pace of autism research. Families who share information on their child's diagnosis, development, and treatments online will now have the opportunity to provide biological samples as well – a step crucial to advancing autism research.

Why is this important?

Although the importance of a genetic contribution to autism is evident through familial patterns of inheritance, uncovering the genes that confer autism risk – and thus the body's biochemical pathways that should be targeted for treatment – has been more complex than initially hoped. The tremendous progress that has been made in the genetics of other complex disorders, such as diabetes, cardiac disease, and glaucoma have resulted largely from the recent availability of registries of very large patient populations. For lack of sufficient biological samples, autism research has yet to make the kind of strides recently seen in these other disorders.

Enter Stan Nelson, M.D., Professor of Human Genetics at UCLA, who has been nurturing plans for a unique autism genetics study since he was a postdoctoral researcher at Stanford. Dr. Nelson suspected that only a few percent of the total cases of autism identified would be attributable to any one gene. That is to say, in addition to autism having a very diverse behavioral presentation, the genetics of autism is

likely to be extremely varied as well. Dr. Nelson hypothesized that the complexity of autism would require that studies include very large sample sizes to be successful. His prediction has now been borne out across all of medicine, where it has become very clear that the pace of understanding genes contributing to complex disorders is directly related to the numbers of individuals and families participating in genetic studies. More surprising is how large these efforts need to be. If other disorders, such as diabetes, serve as a general guide, at least 20,000 and more likely 100,000 individuals with autism will need to be studied – more than 10 times the number currently available to the research community.

The first steps in providing those samples for autism began in 1997 when Cure Autism Now began the Autism Genetic Resource Exchange (AGRE), and later when the National Alliance for Autism Research began the Autism Genome Program (AGP). Both programs are now managed by Autism Speaks, and together have validated the diagnoses and collected genetic samples from a total of more than 3,000 individuals with autism. These registries have been a fantastic resource for researchers, but inclusion in these registries requires a research-certified diagnostic evaluation on the "gold standard" autism assessment tools, which take many hours to administer, creating a substantial bottleneck in adding new families to the registry. Dr. Nelson serves on the AGRE advisory board and, like many others, has been using the AGRE data to unravel the complexities of autism [Read about the most recent study from Dr. Nelson and collaborators here]. The trouble is, pulling together a registry with, say, 50,000 people with autism using current approaches would take a tremendous amount of money and time, especially given the many hours of testing currently used to confirm an autism spectrum diagnosis. In short, despite more than a decade of highly effective collaborations among families, scientists and funding sources, it became evident to Dr. Nelson that new approaches and some novel thinking would be required to accelerate the pace of research and generate the levels of participation necessary for success.

Enter John Constantino, M.D., Professor of Psychiatry and Pediatrics at Washington University in St. Louis. Dr. Constantino has created an assessment tool, called the Social Responsiveness Scale (SRS), that is highly correlated with the "gold standard" autism diagnosis but that can be completed in minutes, instead of hours, and at home or even online. Dr. Constantino worked with the AGRE

registry to associate the quantitative assessments of social ability provided by the SRS with particular regions of DNA in patients, something which had not previously been successful using other parent-report diagnostic tools. Now researchers are using the SRS as a way to quickly screen many individuals and evaluate the prevalence of autism in large populations. The SRS has the potential to be a great tool to efficiently identify large numbers of people with autism, if only there were a simple way to bring the SRS to large numbers of affected people and their families.

Enter Paul Law, M.D., M.P.H., Director of Medical Informatics at the Kennedy Krieger Institute, Assistant Professor of Pediatrics at Johns Hopkins School of Medicine, and the originator of the Interactive Autism Network (IAN). The IAN project, begun with a grant from Autism Speaks, is the nation's largest online autism research effort, with over 10,000 individuals on the autism spectrum participating, as well as over

20,000 family members. Participants answer questionnaires about diagnosis, development, treatments, and other topics from home via the internet and at their convenience. IAN has already resulted in the largest autism data set in existence. It is also serving as a research registry by helping researchers find willing participants for their studies and informing families about research studies they are pre-qualified to join.

A New Collaboration with the Potential for Great Success

With all the ingredients present to try a new approach to recruiting families for genetic studies, all that remained was for these researchers to obtain the funding necessary to test their ideas. And this was precisely the type of opportunity that the High Risk-High Impact (HR-HI) initiative at Autism Speaks was designed to support. Dr. Matthew State, M.D., Ph.D. Donald Cohen Associate Professor of Child Psychiatry and Genetics at Yale, who serves on both the AGRE and HR-HI steering committees, raised this collaborative project as one of HR-HI's initial investments in 2008. Dr. State is enthusiastic about the web-based recruitment effort, saying "the logic of the approach was just completely compelling, but the usual funding mechanisms were hesitant to give it a try. It was tremendously exciting to have a venue to give this idea a chance."

According to Dr. Nelson, the lead investigator on the proposal, "Autism is tremendously complex. Fortunately, this is a terrific confluence of inexpensive and comprehensive genetic assessment, an ability to sample individuals anywhere in the US, and a viable means to characterize affected children using the web, all finally making collection of much larger sample sizes readily feasible."

The proposal was indeed viewed both as quite innovative and quite risky. Could these investigators really double the number of autism genetic samples available worldwide in a year as they proposed to do? Would a new streamlined approach to diagnosis be sufficient to support the identification of autism-related genes? How well would the web-based recruitment work and match up with traditional diagnostic methods?

One of the most interesting and innovative aspects of the HR-HI effort is that these types of questions could be considered and addressed in a collaborative fashion. Unlike many funding processes in which a single grant application is sent in by scientists and receives a thumbs up or thumbs down, the HR-HI was designed to work with investigators and the Autism Speaks advisory boards to resolve the types of questions raised here, and to work collectively to get high risk proposals off the ground. Geri Dawson, Ph.D., Chief Science Officer at Autism Speaks, is eager to see the fruits of this project, noting that "if it works, this study will pave the way for a whole new era of autism genetics. Recruitment of very large samples has led to important breakthroughs in other conditions, such as diabetes. Identification of sets of genes that contribute to autism will allow us to unravel the underlying biology and develop better treatments."

The investigators are now launching their study. Current participants in the IAN Research project ( will be invited to participate in this expanded effort to collect genetic samples. It is also hoped that many new families will register with IAN, answer the online questionnaires, and, if they wish, provide samples. Should your family volunteer, a saliva kit will be sent to your home with instructions on how to collect a sample from your child (who is verbal and at least 4 years old). Meanwhile, the investigators are evaluating the collection of blood using a set of over 1,600 blood draw sites, since many kids with Autism have a difficult time spitting into tubes for saliva collection. If you live within reasonable driving distance of one of three sites (UCLA, Washington University, or Kennedy Krieger Institute) you may also be invited to participate in an expanded assessment involving an in-clinic evaluation at no cost. This visit will permit researchers to test whether diagnoses and test scores obtained over the internet match up with what clinicians find in face-to-face evaluations.

In addition to the wealth of genetic information this research effort will provide, there will hopefully be thousands of new participants in IAN, all contributing to the online data set. Results from the online SRS questionnaire alone will provide details on this population's abilities and challenges in the realm of social behavior. As with all Autism Speaks-sponsored biomaterials research, de-identified results and samples will be made available in the AGRE repository at the end of the project for use by other researchers in many different types of studies. The success of this pilot study will serve as proof of a new paradigm for research in autism. Furthermore, Autism Speaks' investment will permit the investigators to apply for substantially greater funding from federal sources, helping them to collect the vast number of samples that the research history of other complex disorders suggests we will need to make the key breakthroughs. Collecting 3,000 new samples in a year has never been done before, but with the community's help, we can demonstrate the feasibility of this new approach!

To join IAN, please visit

Note: IAN carefully protects your private information. Only a small number of IAN staff have access to your name, address, or other identifying information. All other information is de-identified so that the researchers working with your data will not know who you are.

For more information about privacy and other frequently asked questions about IAN, visit

View more about the work of each investigator at their respective lab sites:
Stan Nelson, M.D.
John Constantino, M.D.
Paul A. Law, M.D., M.P.H.