
Autism Spectrum Disorder: From Genes to Circuits to Behavior
Wednesday, March 20, 2013
Despite extensive research on many fronts, there is still a great deal we don't understand about the highly prevalent autism spectrum. Research into the underlying causes is complicated by the fact that autism is difficult to diagnose, and manifest by a wide range of symptoms that vary across individuals. Promise lies in the improved ability for early diagnosis through genetic, neuroimaging, and behavioral techniques, the discovery of potential biomarkers and behavioral predictors to aid in early detection, and evaluation of the efficacy of therapeutic interventions. This symposium will feature leading researchers presenting updates on the genetic landscape, the use of mouse models to explore behavior, neural circuits and synaptic physiology, top-down approaches to brain function including MEG imaging and auditory-gating, and potential therapeutic biomarkers.
*Reception to follow.
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Agenda
* Presentation titles and times are subject to change.
Wednesday, March 20, 2013 | |
12:00 PM | Welcome and Introduction |
12:10 PM | Updating and Defining the Genetic Landscape |
12:50 PM | Defining the Behavioral Repertoire in Mice with ASD Construct Validity |
1:30 PM | A New Angle on Angelman Syndrome Therapeutics |
2:10 PM | Coffee break |
2:40 PM | Update on MEG Imaging and Potential Biomarkers for ASD |
3:20 PM | Fragile X Syndrome: Genes to Circuits to Clinical Trials |
4:00 PM | Networking reception |
5:00 PM | Close |
Speakers
Organizers
John Spiro, PhD
Simons Foundation
John E. Spiro, PhD, is Deputy Scientific Director of the Simons Foundation Autism Research Initiative (SFARI). He is involved in all aspects of the foundation's research initiatives in the field of autism. The mission of SFARI (with a budget of ~$60 million/year) is to improve the diagnosis and treatment of autism spectrum disorders by funding, catalyzing and driving innovative research of the greatest quality and relevance. John earned his undergraduate degree in biology from Haverford College and his PhD from the University of California, San Diego. His thesis was based on work in the laboratory of the late Walter Heiligenberg, and his postdoctoral work was with Richard Mooney at Duke University Medical Center. His research interests were in cellular and systems neuroscience. In 2000, Spiro joined the Nature Publishing Group as an editor at Nature Neuroscience, where he was involved in evaluating research findings across the field of neuroscience. In 2004, he joined Nature as a senior editor on the biology team, where he oversaw a group of editors responsible for editorial decisions and peer review of manuscripts across all areas of neuroscience. He joined the Simons Foundation in 2007.
Jennifer Henry, PhD
The New York Academy of Sciences
Speakers
Ben Philpot, PhD
University of North Carolina, Chapel Hill
Ben Philpot is an Associate Professor at the University of North Carolina, Chapel Hill, and is co-Director of the Carolina Institute for Developmental Disabilities postdoctoral training program. Dr. Philpot earned his PhD in psychobiology from the University of Virginia in 1997, where he examined the role of sensory experience in shaping the anatomy and function of the olfactory system. He performed a postdoctoral fellowship in the laboratory of Dr. Mark Bear at Brown University and MIT, where he pioneered studies on how experience-driven changes in glutamate receptors can adjust the properties of synaptic plasticity in the neocortex. Dr. Philpot's current research focuses on developing therapeutic strategies to treat neurodevelopmental disorders, and he has helped develop the first-ever screen to activate disease-relevant genes in neurons. Dr. Philpot joined the Department of Cell Biology and Physiology at UNC in 2004, and he is also a member of the Neuroscience Center, the Neurobiology Curriculum, and the Carolina Institute for Developmental Disabilities. He has authored over 50 scientific publications, served on review boards for the National Institutes of Health, and is on the Scientific Advisory Committee for the Angelman Syndrome Foundation. He has received a number of research awards, including awards from the NIH, Angelman Syndrome Foundation, Rett Syndrome Research Trust, NARSAD, Whitehall Foundation, and Simons Foundation.
Tim Roberts, PhD
The Children's Hospital of Philadelphia
Dr. Roberts obtained his PhD from Cambridge University, England in 1992. He has subsequently been on the faculty at UCSF and the University of Toronto and is presently holder of the Oberkircher Family Chair in Pediatric Radiology and Vice-Chair for Research in the Department of Radiology at Children's Hospital of Philadelphia as well as Professor of Radiology, University of Pennsylvania. His work in 4D functional imaging using biomagnetic recording as well as advanced MRI techniques (such as diffusion tensor imaging), specifically in the study of auditory processing and language has been supported by the National Alliance for Autism Research and is presently supported by Autism Speaks, the Nancy Lurie Marks Family Foundation, the Commonwealth of Pennsylvania and NIH. He has published in excess of 200 scientific papers, mostly in the field of physiologic and functional imaging, reviews grant proposals for NIH (standing member, DBD) and several equivalent international agencies (UK, Germany, Austria, Singapore, Israel, Cyprus, Canada, Holland), and serves on the executive committee of the American Society for Neuroradiology, the American Society for Functional Neuroradiology (President 2009–10) and the International Society for the Advancement of Clinical MEG (President 2009–11).
Stephan Sanders, MD
Yale University School of Medicine
Dr. Sanders is a pediatric physician scientist who works on the genetic cause of autism. His research in Dr. State's laboratory at Yale University uses next-generation sequencing and microarray technology to identify the genes that are disrupted in autism. Using the Simons Simplex Collection, a series of autism cases enrolled with the view to understanding the role of de novo mutation in autism, he has shown that de novo copy number variants (CNVs) and de novo loss of function mutations are associated with autism. Furthermore by looking for mutations within the same locus he has demonstrated that duplications at 7q11.23 and the gene SCN2A can contribute towards causing autism.
Laurence Tecott, MD, PhD
University of California, San Francisco
Laurence Tecott is Maurice Eliaser Professor of Psychiatry at the University of California, San Francisco, and directs basic neuroscience research at its Mission Bay Campus. He is a graduate of Swarthmore College and UCSF medical school. He subsequently trained at Stanford University, receiving a PhD in Neurosciences for work relating to the development of novel technology for the amplification of messenger RNA. Dr. Tecott then completed a medical internship at Yale University before entering the psychiatric residency program at UCSF. As a resident, he was among the first to apply advances in gene targeting technology to neuroscience research. His laboratory has focused on mouse molecular genetic approaches to the roles of serotonin systems in neuropsychological processes relevant to psychiatric diseases and obesity. More recently, Dr. Tecott has led an initiative to apply a novel bioinformatics-based approach for the generation and analysis of rich high-resolution home cage behavioral datasets enabling the modeling of entire clinical syndromes in the mouse.
Paul Wang, MD
Seaside Therapeutics
Paul Wang, MD, is a developmental-behavioral pediatrician, trained at Harvard College, Yale School of Medicine, the Salk Institute, and Children's Seashore House/CHOP. During his academic career, his research focused on the development of language and memory, and their neurobiological basis, in children with genetic syndromes. As a clinician, Dr. Wang provided care for children with developmental disabilities, including autism spectrum disorders. Since 2008, Dr. Wang has worked at Seaside Therapeutics, which is translating the basic science of learning and memory into targeted therapeutics for fragile X and ASD. Dr. Wang continues to serve a leadership role in professional societies such as the American Academy of Pediatrics, as an editor of the Journal of Developmental–Behavioral Pediatrics, and as a reviewer and consultant for the NIH, the CDC, Autism Speaks, and other advocacy groups.
Sponsors
Promotional Partners
Asperger Syndrome & High Functioning Autism Association
Society for Neuroscience — Neuroscience Nexus
The Brain Dysfunction Discussion Group is proudly supported by
Mission Partner support for the Frontiers of Science program provided by 
Abstracts
Updating and Defining the Genetic Landscape
Stephan Sanders, MD, Yale University School of Medicine
Defining the Behavioral Repertoire in Mice with ASD Construct Validity
Laurence Tecott, MD, PhD, University of California, San Francisco
A New Angle on Angelman Syndrome Therapeutics
Ben Philpot, PhD, University of North Carolina, Chapel Hill
Update on MEG Imaging and Potential Biomarkers for ASD
Tim Roberts, PhD, The Children's Hospital of Philadelphia
Objective: To draw together MEG imaging results from multiple imaging modalities in a large cohort of children with ASD and both typically developing and clinical controls.
Methods: Approximately 200 children (6–15yrs) with ASD and age/IQ-matched typically developing (TD) subjects were administered tests of auditory processing while whole-head MEG data were collected. Diagnosis was confirmed via ADOS and ADI-R and/or SCQ. Language impairment was quantified using the Core Language Index (CLI) of the CELF-4. An additional cohort of children with specific language impairment (SLI; language impairment in the absence of ASD) were also recruited. Whole-head biomagnetometer data (Omega, 275-channel, VSMMedTech Inc.) were obtained during presentation of isolated sinusoidal tones (500 and 1000 Hz) as well as oddball mismatch tone and vowel paradigms. Dependent variables were left and right auditory cortex latencies for M50, M100 and the mismatch field (MMF). Evoked gamma-band power and phase synchrony were assessed by time-frequency transformation. MRI (Siemens 3T Verio) was performed for anatomic registration and for estimation of regional white matter integrity using diffusion tensor imaging (DTI; 30 directions, b=1000s/mm2). In a subset of the subjects, levels of GABA and Glutamate in auditory cortex were obtained using the MEGAPRESS MRS sequence (TE=68ms).
Results: Examining pure tones, M50 and M100 latency were delayed in ASD versus TD. The latency prolongation in ASD persisted even after measures of language impairment (CLI of the CELF-4) and IQ (FSIQ or PRI) were added as covariates. Diminished gamma-band phase synchrony was observed in ASD. No latency prolongation was observed in the cohort of children with SLI. MMF latency was prolonged in ASD, especially in the subset of children with ASD with language impairment (i.e. CELF CLI < 85). MMF latency was similarly prolonged in children with SLI. DTI of the acoustic radiations was lower in ASD and exhibited a flatter developmental trajectory than observed in typical development. DTI of the left superior longitudinal fasciculus (SLF) was abnormal in ASD, specifically exhibiting elevated mean diffusivity (MD), especially in the subset of children with ASD with language impairment. Although mean diffusivity was also elevated in children with SLI, the most pronounced elevation was observed in the cohort with ASD and language impairment. A 2×2 ANOVA (with factors of ASD/noASD and LI/noLI) with PRI and age as covariates revealed significant main effects (p<0.05) of both ASD and LI. GABA levels in superior temporal gyrus (STG; including auditory cortex) were significantly lower (p<0.05) in ASD than TD.
Discussion: There is considerable emerging physiologic evidence for brain abnormalities in ASD. Some of these abnormalities appear to be proportional to clinical severity (in the domain of interest: language). Converging evidence from multiple modalities supports neurobiological interpretation of developmental anomalies that are both general to ASD and also specific to the language impairment aspect of the phenotype.
Fragile X Syndrome: Genes to Circuits to Clinical Trials
Paul Wang, MD, Seaside Therapeutics
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