Thousands of people with Autism join new online genetic study

New study aims to enroll 50,000 individuals with autism and their families

Staff Report

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 an additional 300 or more 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, Cincinnati Children’s Hospital Medical Center in Cincinnati, Ohio has partnered with SPARK in enrolling over 2,819 people, 979 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, 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. Principal Investigator for SPARK, 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 the DNA from the person with autism but also that of both of his/her biological parents (a ‘trio’). The study currently has 28,939 people with autism enrolled but only 5,220 of them are trios. Trios enable scientists to identify

whether an autism gene was passed down from a parent, or ‘sprung up’ due to other possible factors.

“SPARK empowers researchers to make new discoveries that will 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 Dr. Craig Erickson, MD.

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

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 so 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 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 start-up costs for individual studies.

SPARK is partnering with 23 clinical sites across the country, as well as autism organizations, service providers and key influencers to help educate the public 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.

Cincinnati Children’s Hospital Medical Center

The Kelly O’Leary Center for Autism Spectrum Disorder (TKOC) is a multidisciplinary diagnostic, treatment and research program serving the needs of children and young adults with ASD. TKOC resides within the Division of Developmental and Behavioral Pediatrics (DDBP) at Cincinnati Children’s Hospital Medical Center (CCHMC), and is comprised of Developmental Pediatricians, Child Psychiatrists, Child Neurologists, Pediatric Nurse Practitioners, Speech Language Pathologists, Psychologists, Occupational Therapists, Social Workers, Registered Nurses, and support staff. DDBP and TKOC receive over 400 new referrals monthly, and complete over 20,000 clinic visits annually. Over 400 new children are diagnosed with ASD annually through TKOC, and approximately 2000 children are followed annually for ongoing care and treatment of ASD. TKOC has been a member of the Autism Speaks-Autism Treatment Network since 2008, and is the highest recruiting site in the AS-ATN. DDBP and TKOC have strong community connections, including with the Autism Society of Greater Cincinnati, Cincinnati Public Schools, Hamilton County Developmental Disability Services, and the Southwest Ohio Regional Autism Advisory Council.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 non- verbal) and the presence of repetitive behaviors or restrictive 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, which 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 can: email or call 513-803-2860.

New study aims to enroll 50,000 individuals with autism and their families

Staff Report