Professor and Head of the Department of Biochemistry and Molecular Biology, The Pennsylvania State University
This talk will provide a comprehensive overview of the current state of ASD research, primarily within genetic, epigenetic, and environmental research. This talk will provide an important introduction to ASD and related research for attendees unfamiliar with this field.
Dr. Selleck’s focus has been on growth factor signaling shaping the development and function of the nervous system. His research has ranged from exploring the molecular determinants of signaling molecule gradients to the genetics of behavioral disorders in children.
Research Assistant Professor, University of Southern California
Oxidative stress and inflammation may play a key role in ASD, with adverse prenatal effects. Dr. Volk will describe her work exploring the impact of exposure to traffic-related air pollution on prenatal development and risk of ASD.
Dr. Volk’s research focuses on the environmental and genetic epidemiology of autism and other neurodevelopmental disorders and on gene-environment interaction in complex disease.
Assistant Professor of Biochemistry & Molecular Biology, Assistant Professor of Anthropology, Department of Biochemistry and Molecular Biolgoy, The Pennsylvania State University
Dr. Girirajan will describe work investigating the genetic and phenotypic heterogeneity of neurodevelopmental disorders, particularly ASD. His work has focused on CNV duplication events and their relationship to ASD.
Dr. Girirajan’s work focuses on the discovery of genetic variants in ASD in terms of disease causation, diagnosis, and interpretation.
Research Faculty, Center for Systems Genomics, The Department of Biochemistry and Molecular Biology, The Pennsylvania State University
With ever increasing amounts of data being collected, data visualization will be key for interpretation, analysis, and sharing of analysis results. This talk will describe how data visualization may provide an important role in autism research, providing tools for exploring environmental exposure and genomic data separately and together, with the potential for uncovering new insights for complex data.
Dr. Pendergrass’s work focuses on the development of novel computational and data visualization approaches for data analysis and display of large high-throughput datasets. Her work includes characterization of the relationship between genetic variation, phenotypic outcome, and common complex disease.
Professor and Director of the AJ Drexel Autism Institute
ASD has emerged as an issue of increasing public health significance, with significant personal and financial impact for individuals with ASD and their families. With the increasing amount of ASD research and the recent extension of research in different complex directions, there are a range of important ethical considerations when reporting the results of ASD studies to families, clinicians and the research community. He will discuss a number of issues including the uncertainty, comprehension, inadvertent harm, as well as appropriate roles of clinicians, scientists, and the media, in ASD communication.
Dr. Newshaffer is an epidemiologist who has been involved in autism research for 15 years. His current research portfolio includes large risk factor epidemiology studies, autism phenotyping studies, genomic and epigenomic research, and studies focused on the utilization and evaluation of health care and behavioral intervention services.
Director of the Center for Children’ s Environmental Health Science at University of California, Davis Professor of toxicology in the Department of Molecular Biosciences, School of Veterinary Medicine.
Autism is likely to have multiple causes, and studies are needed to explore relationships between environmental exposure and genes linked to autism. Dr. Pessah and colleagues at the UC Davis Medical Investigation of Neurodevelopmental Disorders (MIND) Institute MIND Institute are among the world’s experts on molecular and environmental contributors to ASD as well as the use of epidemiological data for testing the cellular and molecular mechanisms of ASD. These researchers have established the most comprehensive database in the world of the environmental exposures of children with confirmed ASD or atypical development, linked to an extensive archive of clinical samples, and Dr. Pessah will describe interdisciplinary approaches that leverage this unique set of resources.
Dr. Pessah is a leader in research into the toxicological contributors to ASD.
Professor of medical microbiology and immunology and member of the Genome Center and M.I.N.D. Institute at The University of California - Davis
Dr. LaSalle of the MIND Institute has performed pioneering studies on the epigenetic etiologies of ASD, and will describe the potential epigenetic etiology of ASD. Epigenetics is the study of heritable changes in chromosomes that are not encoded in the DNA sequence, including DNA methylation and chromatin organization. The clinical applications of her research includes the understanding the pathogenesis of the neurodevelopmental disorders autism, Rett syndrome, Prader-Willi syndrome, Dup15q syndrome, and Angelman syndrome, taking a “Rosetta’s stone” approach to decoding the elusive etiology of autism by looking for clues in the epigenetic pathways disrupted in rare genetic disorders on the autism spectrum. . Dr. LaSalle’s recent research is on environmental exposures affecting the DNA methylome and employing novel bioinformatics methods for analysis and visualization of epigenomic data relevant to autism.
Dr. LaSalle’s research is focused on the role of epigenetics in human autism-spectrum disorders.
Assistant professor in the Analytic and Translational Genetics Unit at Massachusetts General Hospital (MGH), instructor in medicine at Harvard Medical School (HMS), and an associated researcher at the Broad Institute
Dr. Neale will describe the impact of high-throughput sequencing on ASD gene discovery, highlighting the contribution of rare variation to ASD as well as the pleiotropic effects of ASD associated mutations. This talk will also cover the challenges that remain in this field for detection and interpretation of inherited and de-novo rare-variants in ASD.
Dr. Neale’s research and training have focused heavily on statistical methodology. He has conducted analyses for genetic data focused on psychiatric illness, particularly ADHD and Autism, but also Tourette’s Obsessive Compulsive Disorder, Schizophrenia and Eating Disorders.
Professor of Genome Sciences, Department of Genome Sciences, The University of Washington
This talk will describe work Dr. Eichler has performed through exome sequencing of the genome for children with ASD and their parents, as well as work determining as copy-number variant (CNV) burden differences across neurodevelopmental phenotypes.
Dr. Eichler has focused understanding the evolution, pathology and mechanism(s) of recent gene duplication and DNA transposition within the human genome. This work has included discovery of those regions, development of methods to assess their variation, detection of rapid gene evolution, and the correlation between this genetic variation with phenotypic differences, including autism spectrum disorders. Dr. Eichler is one of the the leaders in study of the relationship between copy number variation and human disease using state of the art techniques developed at his institution.