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High-Risk Families Advance Autism Research through New Biorepository

 Autism Speaks and the Simons Foundation are collaborating to create a repository of biological samples and clinical information on families with one or more child on the autism spectrum.

The goal of the new biorepository is to support research on the genetic and environmental risk factors that increase or decrease risk for autism spectrum disorders (ASD).  Researchers will collect DNA, cell lines and plasma samples and conduct behavioral assessments on all family members. This project will provide important resources for the investigation of genetic and other influences on the risk of ASD and other developmental outcomes.

Specifically, the High Risk Baby Siblings Research Consortium (BSRC) Biorepository will collect biological samples and clinical information from approximately 445 families affected by autism. These families have at least one child diagnosed with ASD and at least one younger sibling. Younger siblings of children with ASD are considered to be at higher than normal risk of developing autism because the disorder stems, at least in part, from changes in genes that affect brain development. Last year, a BSRC study found that the recurrence of autism in families who already had one child on the spectrum was one in five – a much higher rate than that seen in the general population.   

“This will represent the largest collection of biological samples and behavioral and environmental exposure data from high risk families,” says Alycia Halladay, Ph.D., director of research for environmental sciences at Autism Speaks. Autism Speaks and the National Institute of Child Health & Human Development partnered to organize the BSRC in 2003 and continue to help coordinate its activities.

The biorepository project is being led by Lonnie Zwaigenbaum, M.D., at University of Alberta.   Co-Investigators on the project are Karen Dobkins at the University of California, San Diego; Rebecca Landa at the Kennedy Krieger Institute; Daniel Messinger at the University of Miami; Sally Ozonoff at University of California at Davis; Wendy Stone at the University of Washington and Zachary Warren at Vanderbilt University.  In addition, Autism Speaks is supporting the project’s DNA analysis work, with Steve Scherer, Ph.D., of the Center for Applied Genomics in Toronto leading the effort. 

“The study of the earliest signs and symptoms of autism is incomplete without knowledge of the underlying biology,” says Autism Speaks Chief Science Officer Geri Dawson, Ph.D. “This project is an important step in understanding the causes of autism, leading to better interventions, and Autism Speaks is proud to partner with the Simons Foundation to continue to support this collaboration of high risk infant researchers through the establishment of a biorepository. This data will be crucial to better understanding the underlying genetic and environmental risk factors in ASD.”

An important facet of the BSRC Biorepository is the collection of information on environmental exposures including toxic chemicals, medical and nutritional factors and stress—particularly those affecting mothers during pregnancy and younger siblings during birth and early infancy.  In addition, Autism Speaks and Autism Speaks Canada are supporting the DNA analysis of samples in the repository.  Together, “this project will allow for a more robust detection of potential gene-environment interactions in high risk families,” Dr. Halladay concludes.

For more information on the BSRC, click here. You can also explore other research projects supported by Autism Speaks, with our Grant Search.