Direct participation is accelerating discoveries about the causes of autism and the development of targeted treatments and supports
Direct participation is accelerating discoveries about the causes of autism and the development of targeted treatments and supports
NEW YORK, April 22, 2021 /PRNewswire/ -- SPARK (Simons Powering Autism Research), the world’s largest autism research study, marked its fifth anniversary by passing a major milestone, mobilizing more than 100,000 people with autism to participate directly in scientific research, as well as over 150,000 of their family members, also enrolled as participants. The SPARK community brings together people with autism and the world’s leading autism researchers to drive research that is uncovering the genetic causes of autism and informing the development of targeted treatments and supports. SPARK’s ultimate goal is to power research to help people with autism live their fullest lives.
An estimated 1 in 54 U.S. children has an autism spectrum disorder (ASD), but ASD is very challenging to study holistically, given how much it varies between individuals. While past decades have seen significant advances in our knowledge about autism, more, large scale research is needed to power clear and robust, reproducible findings.
Importantly, SPARK not only performs its own genetic analyses, but gives both established and early-career researchers direct access to its massive, rich data sets containing medical and genetic information and connections from hundreds of thousands of individuals and families affected by autism. This ‘big data’ approach powers and accelerates important, new research that is expanding the understanding of autism – including how and why it affects individuals differently – and giving participants meaningful information and resources to improve their lives.
“Today, thanks to SPARK and the thousands of individuals and families whose participation makes it possible, we have many more answers about autism than just five years ago,” said Wendy Chung, M.D. Ph.D., SPARK’s Principal Investigator, geneticist and pediatrician. “Genetic research continues to yield new insights that are moving us toward individualized approaches to treatment and more effective support for those who need it — and that progress will accelerate as even more families join the SPARK community.”
SPARK catalyzes advances in autism science in two major ways. 50,000 study participants have provided DNA samples via a simple saliva kit. Scientists analyze the DNA individually and collectively to develop deeper insight into the genetic changes that contribute to autism. While scientists have identified more than 150 genes and segments of chromosomes related to autism, there are likely several hundred more genes that have yet to be identified. The more people who participate in SPARK – individuals with autism, their biological parents and their siblings — the faster researchers can identify these genetic changes.
Secondly, SPARK families also receive invitations from scientists to participate in other autism research studies through SPARK Research Match, enabling studies on everything from biology to behavior. In both cases, access to large numbers of people with autism and their genetic and medical information has a powerful multiplying effect.
In just five years, SPARK’s impact on autism research has been significant and measurable:
- Since launching in 2016, over a quarter of a million people, including 100,000 people with autism, have joined SPARK.
- DNA from 50,000 participants, including 23,000 people with autism, has been sequenced and made available to qualified researchers.
- SPARK has notified just under 700 participants about a genetic cause for their autism.
- 33,676 families have taken part in over 100 SPARK Research Match studies, ranging from the study of a neurobiological basis of atypical language development, to a clinical trial for a specific genetic cause of autism, to repetitive thinking patterns in autistic adults. scientific
- 179 scientists have requested and used SPARK data to further autism research.
- Over 20 published scientific papers have used SPARK data, making discoveries about motor impairments, the impact of COVID on children and adults, and rare and common genetic risk variants, associated with autism.
- Using SPARK Research Match, researchers have published an additional 10 scientific papers on topics ranging from special interests to depression in autistic adults and the impact of COVID-19 on the autism community.
“Every individual with autism is unique, and genetic research is helping us to understand why,” said Pamela Feliciano, Ph.D., Scientific Director of SPARK. “The work of the last five years has produced amazing progress, but the future is even more important and exciting. As more individuals and families enroll, we are growing both the size and the richness of the data. At the same time, we’re building an amazing community that is connecting people with each other as they learn more about what they have in common.”
The SPARK clinical site network has expanded to 31 research centers and academic institutions across the country, all leaders in advancing the science of autism. Working with their existing patient populations and through community outreach, these clinical sites play a key role in SPARK recruitment.
“Participating in SPARK allows our community access to cutting edge research into the causes of ASD,” said Zachary E. Warren, Ph.D., executive director of the Vanderbilt Kennedy Center’s (VKC) Treatment and Research Institute for Autism Spectrum Disorders (TRIAD), a SPARK clinical site partner. “It allows us to participate in science on a scale that has the potential to radically advance understanding of impairments related to ASD and develop optimal treatments for addressing those challenges.”
“The large and diverse group of SPARK participants is allowing us to answer questions about ASD in a much more powerful way than was possible in the past,” said Laura Arnstein Carpenter, Ph.D., assistant professor of pediatrics at the Medical University of South Carolina (MUSC), another SPARK clinical site partner. “In the past we were limited by geography to small samples of participants who may not be representative of the autism community as a whole. SPARK has allowed us to recruit more broadly and inclusively so that our research better reflects the population of people affected by ASD.”
SPARK has also partnered with national and local autism community organizations across the U.S. to help find research participants and spread the word about this landmark study. The focus of most of these organizations has traditionally been on providing services, advocacy, resources and networking opportunities, rather than the science of autism, but in partnership with SPARK, they are working to help more members of the autism community be a part of autism research.
About SPARK
SPARK (Simons Powering Autism Research) is a national autism research initiative that will catalyze autism research by connecting 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 is funded in its entirety by the Simons Foundation Autism Research Initiative.
View original content:SOURCE SPARK (Simons Powering Autism Research)
