Autism Pathways Analysis: A Functional Framework and Clues for Further Investigation

July 21, 2016
1:00 pm US Eastern Time

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The Centers for Disease Control estimate that 1 in 68 children has some form of Autism Spectrum Disorder (ASD). Researchers are broadening their understanding of the contributors to ASD, including susceptibility genes and gene-environment interactions. Hundreds of human genes have been implicated in Autism spectrum disorders (ASDs), but the diversity of these genes creates challenges in identifying coherent biological mechanisms.


photo from jsh at Creative Commons

In a new paper, “Pathway Network Analyses for Autism Reveal Multisystem Involvement, Major Overlaps with Other Diseases and Convergence upon MAPK and Calcium Signaling” the authors have successfully demonstrated that genes known to be associated with autism are also involved in pathways that correspond to other diseases. Using a pathway-pathway interaction analysis, this research is the first to generate a systemic functional understanding of autism-associated genes, their products, and the networks these products function in.

On this call, the authors discussed their novel findings using a methodology to focus on functional pathways. Dr. Martha Herbert and Dr. Ya Wen present on the important role of MAPK and calcium signaling pathways in autism pathophysiology, key aspects of autism mechanisms, the relationship of these mechanisms with other disease endpoints, and how challenging environments can impact these pathways.

Featured Speakers

Martha Herbert, MD PhD, is an Assistant Professor of Neurology at Harvard Medical School, a Pediatric Neurologist and Neuroscientist at the Massachusetts General Hospital in Boston, and an affiliate of the Harvard-MIT-MGH Martinos Center for Biomedical Imaging, where she is director of the TRANSCEND Research Program (Treatment Research and Neuroscience Evaluation of Neurodevelopmental Disorders). She is the author of the public-oriented book, The Autism Revolution: Whole Body Strategies for Making Life All It Can Be. She has also started the foundation Higher Synthesis Health. Martha earned her medical degree at Columbia University College of Physicians and Surgeons.

Ya Wen, PhD, is a Research Fellow in the Department of Neurology at Massachusetts General Hospital and researcher at the TRANSCEND Research Program. Dr. Wen’s research interests center around systems biology. Dr. Wen received a PhD in molecular and cellular biology from Hong Kong University of Science and Technology.

This call was moderated by CHE’s Science Director, Ted Schettler, MD, MPH, who is also the Science Director for the Science and Environment Health Network. This call lasted 1 hour and was recorded for our call archives.