Helping To Find The “Why”, Through DNA

About 1.8% of United States children are diagnosed with autism, a rate that has increased significantly over the past two decades. This growth could be accredited to broader diagnostic criteria and an increase in general recognition of the disorder, however it nonetheless means that it is essential to gain a greater sense of understanding of and insight on the disorder that affects so many individuals. 

As technology has advanced over time, progress has been made in autism research. However, there are still various aspects of the disorder that remain unknown to scientists. Over 26 years ago, Marilyn and Jim Simons founded the Simons Foundation. In 2016, the Simons Foundation launched the SPARK program to improve the understanding, diagnosis, and treatment of autism spectrum disorders. SPARK, also known as Simons Foundation Powering Autism Research for Knowledge, is the largest genetic study of autism. The mission of the research project is to speed up research and advance our understanding of autism to help improve lives. SPARK has recruited 28,927 families for the study with 31 clinical sites in the United States and about 100,000 people with autism. Due to the large size of the SPARK study, almost all of the genes that are responsible for autism could be identified. Currently, the SPARK gene list consists of 157 identified single genes and 28 copy-number variants (repeated sections of the genome). The SPARK gene list includes numerous genes and copy-number variants that have well-established, persistent evidence that they are affiliated with autism.

Individuals who have been professionally diagnosed with autism and live in the United States are encouraged to engage in SPARK along with their families. All participants who are eligible can enroll online at Once enrolled, families will then be provided with a saliva sample via kits that are shipped to households. SPARK estimates that they will find genetic results related to autism in around 10% of their participants. Although not all families will get genetic results, even participation can help by increasing the number of genes and genetic changes known to be related to autism. SPARK families may receive invitations from other researchers to participate in additional studies, enabling further research of the disorder.

Recently, my family became familiar with the SPARK program. My brother, my Mom, my Dad, and I all submitted saliva samples using a kit. We have not gotten our results back yet but it is amazing to be a part of this crucial research study and further global scientific knowledge on autism. Along with participating in the research study, I met several wonderful faculty members associated with the SPARK program at the University of Miami. Through volunteering with the program, I hope to gain more knowledge of the SPARK research study and encourage more study membership/participation.

Gene List:

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