The Children’s Hospital of Philadelphia’s Center for Autism Research Joins Launch of SPARK, Nation’s Largest Autism Research Study

Groundbreaking Initiative Combines Web-based Registry with DNA Analysis to Accelerate Autism Research and Speed Discovery of Treatments, Supports

Published on in CHOP News

The Center for Autism Research (CAR) at The Children’s Hospital of Philadelphia is among the research sites participating in SPARK, an online research initiative designed to become the largest autism study ever undertaken in the United States. Sponsored by the Simons Foundation Autism Research Initiative (SFARI), SPARK will collect information and DNA for genetic analysis from 50,000 individuals with autism — and their families — to advance our understanding of the causes of this condition and to hasten the discovery of supports and treatments.

CAR is one of a select group of 21 leading national research institutions chosen by SFARI to assist with recruitment. The SPARK effort is being led locally by Robert T. Schultz, PhD, director of CAR, and clinical neuropsychologist Juhi Pandey, PhD, a senior scientist at CAR, along with their team at CHOP.

Team science, extremely large samples of patients needed for gene discovery

“Identifying genes is critically important for developing new therapies for autism. However, one of the greatest challenges for researchers is the sheer number of gene variants associated with autism, combined with the tremendous variability in the symptoms of autism,” said Dr. Schultz, who is leading the CHOP research site. “Because ASD is so varied in its causes and manifestations, extremely large samples of patients are needed for gene discovery. Team science and collaboration is the only viable path forward for rapidly making progress, and SPARK provides us with just such an opportunity.”

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.

Advances in genetic testing allows research to come to families' homes, so more can participate

“Recent, rapid advances in genetic testing capabilities have enabled us to bring research to families’ homes, suddenly making it possible for a vast number and diversity of people to participate and effect real change,” said Dr. Pandey, co-leader of the SPARK study at CHOP. “We’re honored to be among the distinguished autism and genetic research centers working to pave the way for precision medicine that can be tailored to individuals on the autism spectrum.”

SPARK aims to speed up autism research by inviting participation from this large, diverse autism community, with the goal of including individuals with a professional diagnosis of autism of both sexes and all ages, backgrounds, races, geographic locations and socioeconomic situations.

SPARK will connect participants to researchers, offering them the unique opportunity to impact the future of autism research by joining any of the multiple studies offered through SPARK.

The initiative will catalyze research by creating large-scale access to study participants whose DNA may be selectively analyzed for a specific scientific question of interest.

SPARK will also elicit feedback from individuals and parents of children with autism to develop a robust research agenda that is meaningful for them.

Anyone interested in learning more about SPARK or in participating can visit www.SPARKforAutism.org/CHOP or call us at (267) 426-4971.

More information

Funding

SPARK is entirely funded by the Simons Foundation Autism Research Initiative (SFARI).

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 fashioned with input from 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. Once the SPARK participant’s family has returned their saliva samples and provided some medical and family history information, the SPARK participant will receive a $50 gift card. 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.

About The Center for Autism Research

The Center for Autism Research (CAR) at The Children's Hospital of Philadelphia is one of the nation's leading centers for autism research and outreach to families. CAR's mission is to make rapid progress in understanding the underlying causes of Autism Spectrum Disorder, with the ultimate goal of discovering treatments which will make a difference for families living with autism. CAR's multidisciplinary teams in psychology, neurosciences and genetics are spearheading the largest and most innovative autism studies ever conceived and applying state-of-the-art research and clinical tools to unlock the mysteries of autism. For more information, please visit www.CenterforAutismResearch.org.

About The Children's Hospital of Philadelphia

The Children's Hospital of Philadelphia was founded in 1855 as the nation's first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals and pioneering major research initiatives, Children's Hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country. In addition, its unique family-centered care and public service programs have brought the 535-bed hospital recognition as a leading advocate for children and adolescents. For more information, please visit www.chop.edu.

About autism

Autism is a general term used to describe a group of complex developmental disorders – autism spectrum disorders – caused by a combination of genes and perhaps 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, can substantially advance such efforts.