Thousands of people with autism join new online genetic study


(AURORA, CO) Autism has a strong genetic component. To date, approximately 50 genes have been identified that almost certainly play a role in autism, and researchers estimate that at least an additional 300 are involved. But to identify all the genes at play, many more genetic samples are needed from those with autism and their immediate families.

That's where SPARK comes in. SPARK is an online scientific study and community of individuals with autism and their families. Launched just a year ago, JFK Partners and Children's Hospital Colorado in Aurora, CO have partnered with SPARK in enrolling over 1,168 people, 400 of whom have autism.

SPARK's goals are twofold: first, to identify the hundreds of autism genes at play and to link them to the biological mechanisms that they govern, as well as to any environmental factors to which participants with autism may have been exposed. Researchers can better understand the condition's causes by linking specific identified genes to the diverse array of symptoms, skills and challenges of those affected. Second, it seeks to connect these individuals and families to research opportunities that advance the understanding of autism.

Why genes? And why 50,000?

It is estimated that it will take 50,000 genetic profiles of people with autism to identify a large percentage of the genetic factors contributing to autism. SPARK principal investigator Dr. Wendy Chung says, "Statistically, if we succeed in working with 50,000 participants on the autism spectrum, we will be able to identify at least 250 genes that contribute to autism that can be used to better understand how the brain is different in individuals with autism and potentially identify targets to develop medications that can be used to support individuals with autism."

In a genetic study of this scope, it is important to collect not only DNA from the person with autism but also that of both of his/her biological parents (a 'trio'). The study currently has 17,840 people with autism enrolled, but only 6,979 of them are members of trios. Trios enable scientists to identify whether an autism gene was passed down from a parent or 'sprung up' in a different way.

"SPARK empowers researchers to make new discoveries that may ultimately lead to the development of new supports and treatments to improve lives, which makes it one of the most insightful research endeavors to date, in addition to being the largest genetic research initiative in the U.S.," says Sandra L. Friedman, MD, director of Developmental Pediatrics at Children's Hospital Colorado and JFK Partners.

Through the project's website and on social media, participating individuals and families have begun to express enthusiasm for all that SPARK makes possible:

"I wanted to participate in the SPARK study because my son was diagnosed with autism 10 years ago, and I am interested in everything that has to do with the subject. If my family and I can help by participating to help advance (autism) research, then we are happy to do so," said Ana Aguilar, SPARK participant.


Anyone interested in learning more about SPARK or in participating may visit: and JFK Partners on Facebook and Twitter.

More about SPARK?

SPARK (Simons Foundation Powering Autism Research for Knowledge) is a national autism research initiative that will connect individuals with a professional diagnosis of autism and their biological family members to research opportunities to advance our understanding of autism. SPARK's goal in doing this is not only to better understand autism but to accelerate the development of new treatments and supports.

SPARK was designed to be easily accessible to the entire autism community, and it was designed in consultation with adults with autism, parents, researchers, clinicians, service providers and advocates.

Registering for this first-of-its-kind initiative can be done entirely online in the convenience of one's home and at no cost. DNA will be collected via saliva kits shipped directly to participants. SPARK will provide access to online resources and the latest research in autism, which may provide participants and families with valuable information to help address daily challenges.

For researchers, SPARK provides a large, well-characterized cohort of genetic, medical and behavioral data, and will result in cost savings for researchers by reducing startup costs for individual studies.

SPARK is partnering with 25 clinical sites across the country as well as autism organizations, service providers and key influencers to help spread the word about SPARK and to recruit participants. Through these strategic partnerships, SFARI hopes to reach and engage a diverse and large number of individuals and families affected by autism.

SPARK is entirely funded by SFARI, a scientific initiative within the Simons Foundation's suite of programs.

About Autism

Autism is an umbrella term used to describe a group of complex developmental disorders — autism spectrum disorders — caused by genes or combinations of genes, perhaps in concert with environmental influences. These disorders are characterized by deficits in social communication (both verbal and nonverbal) and the presence of repetitive behaviors or restricted interests. An estimated one in 68 children in the U.S. is on the autism spectrum. The wide range of autism manifestations makes it challenging to study potential causes or treatments, and thus a large cohort that can be segmented — genetically and by the condition's manifestation — can substantially advance such efforts.

Anyone interested in learning more about SPARK or in participating may visit and JFK Partners on Facebook and Twitter.

About JFK Partners

JFK Partners is an interdepartmental program of the departments of Pediatrics and Psychiatry of the University Of Colorado School Of Medicine located at the Anschutz Medical Campus in Aurora, Colorado. Designated as Colorado's University Center of Excellence in Developmental Disabilities (UCEDD) and Leadership Education in Neurodevelopmental Disabilities (LEND) Program, JFK Partners has collaborative relationships with numerous organizations that are a part of Colorado's developmental disability and special health care needs communities.

About Children's Hospital Colorado

Children's Hospital Colorado (Children's Colorado) has defined and delivered pediatric health care excellence for more than 100 years. Founded in 1908, Children's Colorado is a leading pediatric network entirely devoted to the health and well-being of children. Continually acknowledged as one of the nation's outstanding pediatric hospitals by U.S. News & World Report and ranked on its Best Children's Hospitals 2016-17 Honor Roll, Children's Colorado is known for both its nationally and internationally recognized medical, research, education and advocacy programs, as well as comprehensive everyday care for kids throughout Colorado and surrounding states. Children's Colorado is the winner of the 2015 American Hospital Association-McKesson Quest for Quality Prize, and is a 2013-2016 Most Wired hospital according to Hospitals & Health Networks magazine. Children's Colorado also is recognized for excellence in nursing from the American Nurses Credentialing Centers and has been designated a Magnet® hospital since 2005. The hospital's family-centered, collaborative approach combines the nation's top pediatric doctors, nurses and researchers to pioneer new approaches to pediatric medicine. With urgent, emergency and specialty care locations throughout Metro Denver and Southern Colorado, including its campus on the Anschutz Medical Campus, Children's Colorado provides a full spectrum of pediatric specialties. For more information, visit and connect with Children's Colorado on Facebook, Twitter and Pinterest.

Children's Hospital Colorado complies with applicable Federal civil rights laws and does not discriminate on the basis of race, color, national origin, age, disability, or sex.

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