Simons Foundation Lectures

In this lecture, Dr. David Ledbetter will describe Geisinger Health System’s Precision Health Center. The center makes available more than 20 years’ worth of electronic health data for research and innovation. In partnership with Regeneron Genetics Center, Geisinger now has exome sequence data for more than 92,000 patient-participants, with an ultimate goal of 250,000. Those data have already led to the successful identification of new drug targets, improved prevalence estimates of the most common Mendelian disorders (FH, BRCA, Lynch) and the identification of autism spectrum and neuropsychiatric CNV disorders in 0.8 percent of the dataset’s adult participants. These results are already having a positive impact on individual participants, their family members and their primary care physicians.

In this lecture, Mark Zylka will describe how candidate environmental risk factors for autism can be identified rationally, by pinpointing chemicals that interfere with the same molecular pathways that are affected in individuals with autism. His research focuses on identifying environmental-use chemicals that target autism-linked molecular pathways, using environmental sampling data to assess the exposure threat to people, and validating risk potential in animal models.

In this lecture, Dr. Jeremy Veenstra-VanderWeele will outline critical challenges, both conceptual and practical, to translating genomic, cellular, and animal model research into new treatments in autism spectrum disorder.

In this lecture, Dr. Beth Stevens will discuss recent work that implicates brain immune cells, called microglia, in sculpting of synaptic connections during development and their relevance to autism, schizophrenia and other brain disorders.

Genetic disorders with high penetrance of autism symptoms provide an opportunity to investigate the cellular and circuitry abnormalities underlying autism spectrum disorder. Mustafa Sahin studies the basis of Tuberous Sclerosis Complex (TSC) in cell culture, in animal models and in the clinic and will present an update on translational research in TSC.

Dr. Ruth O’Hara will present on the field’s current understanding of sleep in autism spectrum disorder.