SPARK study will draw on genetic database of 50,000 people
By Deb Song
Autism experts at Rush University Medical Center have joined the largest autism study ever undertaken in the United States.
Sponsored by the Simons Foundation Autism Research Initiative, the study, called SPARK, will collect demographic, medical and behavioral information and DNA samples for genetic analysis from 50,000 people with autism and their family members. SPARK — which stands for Simons Foundation Powering Autism Research for Knowledge — will make these resources available to researchers at participating institutions in order to advance understanding of the causes of autism and to speed the discovery of new and improved supports and treatments.
The autism experts at Rush join a select group of 21 leading national research institutions the Simons Foundation has chosen to assist with recruiting SPARK participants.
Personalizing treatments to match autism’s complexities
Rush’s effort is being led by Latha Soorya, PhD, assistant professor of psychiatry, and Cesar Ochoa-Lubinoff, MD, assistant professor of pediatrics. This interdisciplinary collaboration is supported by the Autism Assessment, Research, Treatment and Services Center, developmental and behavioral pediatrics, pediatric neurology and the Rush Neurobehavioral Center.
“There have been many advancements, but not enough genetic research to develop the personalized medicine approaches needed to advance treatment,” Soorya says. “Autism is diverse with many complexities, and currently we treat it as a single condition."
“Researchers need a better understanding of how medical and behavioral characteristics are linked to autism spectrum disorder in order to treat all the variations and different presentations of the disease we see.”
Enlisting a large and diverse community
According to the U.S. Centers for Disease Control and Prevention, an estimated one in 68 children are on the autism spectrum. The largest genetic research initiative in the U.S., SPARK aims to speed up autism research by inviting participation from this large, diverse autism community, including individuals with autism of both sexes and all ages, backgrounds, races, geographic locations and socioeconomic situations.
SPARK participants will provide a DNA sample obtained using a simple cheek or gum swab. Rush will collect samples at the Medical Center from consenting participants, including people who receive autism treatment or participate in other autism studies. Autism experts at Rush provided clinical care to nearly 1000 individuals people with autism last year.
Participants also have the option of registering for SPARK online and receiving free sample collection kits in their home, which they mail to a lab for analysis.
By drawing on this abundance of material to study and share, researchers will be able to look more effectively for relevant biological mechanisms of autism and how genetic and environmental factors interact to result in autism spectrum disorder.
Linking hundreds of genes to a spectrum of symptoms
Autism is known to have a strong genetic component. To date, approximately 50 genes have been identified that almost certainly play a role in autism, and scientists estimate that an additional 300 or more are involved.
By studying these genes, associated biological mechanisms and how genetics interact with environmental factors, researchers can better understand the condition’s causes, and link them to the spectrum of symptoms, skills and challenges of those affected. In addition to collecting information to accelerate autism research, SPARK will connect participants to researchers, offering them the opportunity to join any of the multiple studies offered through SPARK.
"We know there are many people and families affected by autism spectrum disorder who need help and support today,” Soorya says. “Partnering with SPARK for research also could lead to interventions that decrease challenging symptoms of autism and improve in the future."
To participate in SPARK or for more information, visit www.SPARKforAutism.org/rush, or call Katy Heerwagen at the Autism Assessment, Research, Treatment and Services Center at Rush at (312) 563-2765.