The Genetic Link

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Article by: Shauna White

SPARK project provides evidence for autism risk genes


The latest episode of Molecules, microbes and multiomics features an interview with Pamela Feliciano, Ph.D. who is the Scientific Director for SPARK (Simons Foundation Powering Autism Research through Knowledge). Launched in 2016, SPARK is designed to speed up research and advance our understanding of autism. SPARK, the largest study of autism ever, aims to make important progress possible.

You can listen to the full podcast here and selected highlights are below:

What’s different about this research project compared to other research projects focused on Autism?

“One of the biggest differences with SPARK versus other programs is that we have a long-term commitment to the program. Having the ability to not only think about what’s going to happen next year but 5 years down the road has allowed us to focus on things like retention and building a research community. Knowing that research takes a long time and still being confident in our commitment to returning genetic results to families has allowed this program to do things differently.”

To collect DNA saliva samples from 50,000 families is a massive undertaking. Your pilot study alone collected 1379 DNA saliva samples. What is your donor recruitment experience and process?

“The recruitment in SPARK has evolved over the past 3 years. We’ve been surprised at how effective national media is at getting the word out about the program. We planned and designed a program with the idea that it should be scalable. The results have been that we have consistent recruitment. We have a network of clinical sites across the country that hosting events, reaching out to families and collecting DNA samples every day. The collective activity of the network has been consistent over the past few years.”

What have you learned from the exome sequencing analysis of these DNA saliva samples?

“We learned in the pilot that people who participate in the program contribute to our knowledge of the genetic architecture of autism. There are many, probably up to 1000 genes involved in autism and we still have hundreds to identify. By collecting samples from a large number of people we will get to that, and that’s what we’re seeing in the results to date. In the pilot we discovered several new autism risk factors and as we continue to sequence more families, we’re discovering more. This is what we set out to do.”

Your pilot study provides some evidence for autism risk genes. What could this mean for the future of ASD research and diagnosis?

“I think that as we sequence more samples, we’ll expand the number of genes that are known and we’ll expand our knowledge of the biological pathways that are disrupted in autism. We will also provide the community with a rich resource of genes and knowledge so that the scientific community can use this information and drive the field forward towards better and more effective treatments for this condition.”

Now that you’ve published the pilot study, what are your next steps?

“We have been continuing to collect samples and continuing to sequence samples. We have publicly released data from 27,000 additional samples and that’s available through our SFARI website to any researcher in the community who wants to look at it. This year, we’ll be releasing more data at an equivalent level (27,000 – 30,000 more samples) and we’ll continue on this path for a few more years. After we’ve sequenced several tens of thousands of families we will see where we are. But for now, we’re continuing on our trajectory and continuing to recruit, collect and sequence.”

Interested in learning more about SPARK? You’ll have to listen to the podcast to hear what else Dr. Feliciano has to say. 

For more information on the DNA sample collection kits used in the SPARK project, please email us at

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