Keystone Symposia Conference | Towards Defining the Pathophysiology of Autistic Behavior

Meeting Program

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Sunday, April 11
3:00 - 7:30 PM	Registration	Ballroom Lobby
6:30 - 7:30 PM	Refreshments	Ballroom Lobby
7:30 - 8:30 PM	Keynote Address (Joint) Registered attendees for this meeting can view Abstracts for this session starting on 03/11/2010	Ballroom 2-3
	* Matthew B. Dalva, University of Pennsylvania, USA
	Michael E. Greenberg, Harvard Medical School, USA Signaling Networks that Control Synapse Development and Cognitive Function
Monday, April 12
7:00 - 8:00 AM	Breakfast	Golden Cliff/Eagles
8:00 - 11:00 AM	The Autism Phenotype Registered attendees for this meeting can view Abstracts for this session starting on 03/11/2010	Ballroom 2
	* Pat Levitt, Keck School of Medicine, USA
	Joseph Piven, University of North Carolina at Chapel Hill, USA The Syndrome of Autism: Phenomenology
	Patrick Bolton, King's College, London, UK Overview of Medical Conditions Associated with the Autistic Phenotype
	Thomas Portmann, Stanford University, USA Short Talk: Analysis of a Patient-Derived Cellular Model System for Autism Spectrum Disorders
	Elizabeth M. Berry-Kravis, RUSH University Medical Center, USA Autism Phenotype in Fragile X Syndrome: A Door to Molecular Pathways and New Targeted Treatment Strategies
Following Session is for Synapses (Z3)
8:00 - 11:15 AM	Circuit Formation Registered attendees for this meeting can view Abstracts for this session starting on 03/11/2010	Ballroom 3
	* Yishi Jin, University of California, San Diego, USA
	Anirvan Ghosh, University of California, San Diego, USA On the Emergence of Synaptic Specificity in Developing Neural Circuits
	Kang Shen, Stanford University, USA Intrinsic and Extrinsic Factors Pattern Synaptic Circuit Assembly in C. elegans
	Silvia Arber, Biozentrum, University of Basel & Friedrich Miescher Institute, Switzerland Mechanisms Controlling Synaptic Specificity in the Motor System

	Hitoshi Sakano, University of Tokyo, Japan Autonomous Topographic Map Formation by Olfactory Axons in Mouse
	Fatiha Boukhtouche, Biozentrum, University of Basel, Switzerland Short Talk: Trans-Synaptic BMP Signaling in the Ponto-Cerebellar Projection System
	Beatriz Rico, Instituto de Neurociencias de Alicante, Spain Short Talk: Control of Cortical GABAergic Circuitry Development by Nrg1/ErbB4 Signalling
9:20 - 9:40 AM	Coffee Break	Ballroom Lobby
11:00 AM-	On Own for Lunch and Recreation
11:00 AM- 1:00 PM	Poster Setup	Superior/Superior Lobby/Wasatch/Maybird
1:00 - 10:00 PM	Poster Viewing	Superior/Superior Lobby/Wasatch/Maybird
4:30 - 5:00 PM	Coffee Available	Ballroom Lobby
5:00 - 7:00 PM	FXS Registered attendees for this meeting can view Abstracts for this session starting on 03/11/2010	Ballroom 2
	* Joseph Piven, University of North Carolina at Chapel Hill, USA
	Randi J. Hagerman, University of California, Davis, USA Molecular Mechanisms of ASD in the Premutation and the Full Mutation
	Mark F. Bear, Massachusetts Institute of Technology, USA Activity Dependent Regulation of Glutamate Receptors and the Neurobiology of FXS
	Claudia Bagni, Catholic University of Leuven, Belgium Molecular Aspects of Mental Retardation: Insights from the Fragile X Syndrome
Following Session is for Synapses (Z3)
5:00 - 7:00 PM	Synaptic Adhesion and Signaling Registered attendees for this meeting can view Abstracts for this session starting on 03/11/2010	Ballroom 3
	* Thomas L. Schwarz, Children's Hospital, Boston and Harvard Medical School, USA
	Matthew B. Dalva, University of Pennsylvania, USA Postsynaptic Mechanisms Guiding Synapse Development

	Ann Marie Craig, University of British Columbia, Canada Molecular Assembly of Hippocampal Synapses
	Lisa M. Boulanger, Princeton University, USA Regulation of Synaptic Transmission and Synaptic Plasticity by MHC Class I
	Robby M. Weimer, Genentech, USA Short Talk: Death Receptor 6 (DR6) Regulates Synapse Stability in vivo
7:00 - 8:00 PM	Social Hour w/ Lite Bites	Superior/Superior Lobby/Wasatch/Maybird
7:30 - 10:00 PM	Poster Session 1 Registered attendees for this meeting can view Abstracts for this session starting on 03/11/2010	Superior/Superior Lobby/Wasatch/Maybird
Tuesday, April 13
7:00 - 8:00 AM	Breakfast	Golden Cliff/Eagles
8:00 - 11:00 AM	15q, CNV and Rare Syndromes Registered attendees for this meeting can view Abstracts for this session starting on 03/11/2010	Ballroom 2
	Carolyn Schanen, A.I. duPont Hospital for Children, USA International Rett Syndrome Foundation Speaker: Increasing Molecular and Phenotypic Complexities of the Chromosome 15q11.2-q13.3 Duplication Syndromes in Autism Spectrum Disorders
	Elisabeth Dykens, Vanderbilt University, USA Prader-Willi Syndrome and Other Disorders
	Matthew W. State, Yale Child Study Center, USA Rare Structural and Sequence Variation in Autism Spectrum Disorders
	Toru Takumi, Hiroshima University, Japan Neurobiology of Chromosome 15 Copy Variants in Mice
	Michael J. Ronemus, Cold Spring Harbor Laboratory, USA Short Talk: Rare and de novo Mutations in the Simons Simplex Collection
Following Session is for Synapses (Z3)
8:00 - 11:15 AM	Transynaptic Mechanisms Registered attendees for this meeting can view Abstracts for this session starting on 03/11/2010	Ballroom 3
	* Elva Diaz, University of California, Davis, School of Medicine, USA
	Hisashi Umemori, University of Michigan, USA Wiring the Functional Brain
	Thomas Biederer, Yale University, USA Synaptic Adhesion Complexes Organize Synapse Development
	Michisuke Yuzaki, School of Medicine, Keio University, Japan Cbln1 and its Receptor: A Unique and Essential Bidirectional Synaptic Organizer Complex
	Vivian Budnik, University of Massachusetts Medical School, USA Trans-Synaptic Transport of a Vesicular Wnt Signal
	Brian D. McCabe, Columbia University, USA Short Talk: Retrograde Robo Signaling Coordinates Synaptic Maturation
	Matthew J. Kennedy, Duke University, USA Short Talk: A Domain for Activity-Triggered Postsynaptic Exocytosis in Dendritic Spines
9:20 - 9:40 AM	Coffee Break	Ballroom Lobby
11:00 AM-	On Own for Lunch and Recreation
11:00 AM- 1:00 PM	Poster Setup	Superior/Superior Lobby/Wasatch/Maybird
1:00 - 10:00 PM	Poster Viewing	Superior/Superior Lobby/Wasatch/Maybird
4:30 - 5:00 PM	Coffee Available	Ballroom Lobby
5:00 - 7:00 PM	PI3 Kinase Dysfunction Registered attendees for this meeting can view Abstracts for this session starting on 03/11/2010	Ballroom 2
	* Matthew W. State†, Yale Child Study Center, USA
	Alcino J. Silva, University of California, Los Angeles, USA Tsc2 Haploinsufficiency and Gestational Immune Activation: Interactive Effects in Mice
	Pat Levitt, Keck School of Medicine, USA MET Receptor Tyrosine Kinase and Social-Emotional Circuit Wiring Relevant to Autism Spectrum Disorder
	Luis F. Parada, University of Texas Southwestern Medical Center, USA Mouse Models as Translational Tools to Discover Treatments for Autism Spectrum Disorders: Focus on Rapamycin
Following Session is for Synapses (Z3)
5:00 - 7:00 PM	Glia Cells and Synapse Formation Registered attendees for this meeting can view Abstracts for this session starting on 03/11/2010	Ballroom 3
	* Christopher W. Cowan, University of Texas-Southwestern Medical School, USA
	Cagla Eroglu, Duke University Medical Center, USA How do Astrocytes Induce Central Nervous System Synaptogenesis?
	Philip G. Haydon, Tufts University, USA Glia: Listening and Talking to the Synapse
	Dwight E. Bergles, Johns Hopkins School of Medicine, USA Synaptic Communication between Neurons and Glial Cells in the Mammalian Brain
	Suzanne Paradis, Brandeis University, USA Short Talk: Elucidating the Function of Semaphorin 4D in GABAergic Synapse Formation
7:00 - 8:00 PM	Social Hour w/ Lite Bites	Superior/Superior Lobby/Wasatch/Maybird
7:30 - 10:00 PM	Poster Session 2 Registered attendees for this meeting can view Abstracts for this session starting on 03/11/2010	Superior/Superior Lobby/Wasatch/Maybird
Wednesday, April 14
7:00 - 8:00 AM	Breakfast	Golden Cliff/Eagles
8:00 - 11:15 AM	Synaptic and Circuit Function in Neurodevelopmental Disorders (Joint) Registered attendees for this meeting can view Abstracts for this session starting on 03/11/2010	Ballroom 2-3
	* Peter Scheiffele, Biozentrum, University Basel, Switzerland
	Jennifer Darnell, Rockefeller University, USA HITS-CLIP Identifies Specific Neuronal mRNA Targets of Translational Repression by the Fragile X Mental Retardation Protein, FMRP
	Kimberly M. Huber, University of Texas Southwestern Medical Center, USA Regulation of Synapse Number by Fragile X Mental Retardation Protein
	Ben D. Philpot, University of North Carolina at Chapel Hill, USA Angelman Syndrome and Synaptic Plasticity
	Nils Brose, Max Planck Institute of Experimental Medicine, Germany Genetic Dissection of Neuroligin Function: From Synaptogenesis to Autism
	Jeremy Veenstra-VanderWeele†, Vanderbilt University Medical Center, USA Short Talk: Hyperserotonemia, Enhanced Brain Serotonin Clearance, and Altered Behavior Accompany Knock-In of the Autism-Associated SERT Ala56 Variant
	Kristen Jennifer Brennand, The Salk Institute for Biological Studies, USA Short Talk: Modeling Schizophrenia Using hiPS-Derived Neurons
9:20 - 9:40 AM	Coffee Break	Ballroom Lobby
11:15 AM-	On Own for Lunch and Recreation
4:30 - 5:00 PM	Coffee Available	Ballroom Lobby
5:00 - 7:00 PM	Epigenetic Modifiers of Neurodevelopmental Disorders Registered attendees for this meeting can view Abstracts for this session starting on 03/11/2010	Ballroom 2
	* Alcino J. Silva, University of California, Los Angeles, USA
	Moshe Szyf, McGill University, Canada How Early Life Experience Modifies the Epigenome and Affects Mental Health
	Lisa M. Monteggia, University of Texas Southwestern Medical Center, USA International Rett Syndrome Foundation Speaker: Role of MeCP2 and HDACs in Regulating Synapse Function and Behavior
	Courtney A. Miller, The Scripps Research Institute, USA Epigenetics and Memory
Following Session is for Synapses (Z3)
5:00 - 7:00 PM	Technology Registered attendees for this meeting can view Abstracts for this session starting on 03/11/2010	Ballroom 3
	* Philip G. Haydon†, Tufts University, USA
	Ed Callaway, The Salk Institute, USA New Rabies-Based Tools for Studies of the Structure and Function of Neural Circuits
	Karl Deisseroth, Stanford University, USA Optogenetics: Development and Application


	Jun Ding, Harvard Medical School, USA Short Talk: Deep Tissue Supraresolution Imaging of Neurons Using Stimulated-Emission Depletion 2-Photon Laser Scanning Microscopy
7:00 - 8:00 PM	Social Hour w/ Lite Bites	Ballroom 1-2
8:00 - 11:00 PM	Entertainment	Ballroom 1-2
Thursday, April 15
	Departure
*=Session Chair †=Speaker invited, not yet responded.

Keystone Symposia would like to thank the sponsor of this meeting for their generous support:

We gratefully acknowledge additional support for this conference from:

	International Rett Syndrome Foundation

We gratefully acknowledge the generous grants for this conference provided by:

National Institutes of Health
National Institute of Mental Health (NIMH)
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Grant No. 1R13MH090651-01

The views expressed in written conference materials or publications and by speakers and moderators do not necessarily reflect the official policies of the Department of Health and Human Services; nor does mention of trade names, commercial practices, or organizations imply endorsement by the U.S. Government.

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Autism is a neurodevelopmental disorder defined by the co-occurrence of a set of characteristic behavioral features. One of the most common neurodevelopmental disorders, autism is recognized as heterogeneous in etiology, phenotype, behavioral trajectory and response to treatment. While the etiology and specific pathogenetic mechanisms underlying autism are unknown, those mechanisms which underlie a small subset of etiologically-defined neurodevelopmental disorders (e.g., Fragile X Syndrome, tuberous sclerosis), that are associated with autism and autistic behaviors, have been well described. The overarching aim of this Keystone Symposia meeting will be to take advantage of our knowledge of etiologic heterogeneity by examining the phenomenology and pathophysiology of etiologically-defined autistic syndromes, and contrasting this with what is known about idiopathic autism, in order to ultimately shape the development of treatment approaches informed by knowledge of the underlying pathophysiology. This conference will bring together clinical and basic scientists from various disciplines to expand on the success of an earlier Keystone Symposia meeting on this topic by additionally: 1) covering a broader number of etiologically-defined autistic syndromes; 2) comparing and contrasting the phenomenology (including physical features, behavior and neural circuitry) of autistic syndromes, to refine ideas regarding etiologically-meaningful aspects of the autism phenotype; 3) examining the role of the environment (epigenetic influences) in contributing to the etiology and underlying mechanisms of autism (including idiopathic autism and autistic syndromes), with the aim of elucidating a more comprehensive understanding of the pathophysiology of autistic behavior; and 4) examining how gene-by-environment (GxE) factors impact synaptic function and plasticity that may lie at the heart of autism syndromes. Goals: 1. Define more precisely the common and unique clinical features of syndromic and idiopathic autism. The field needs a realistic view of autism heterogeneity with regard to phenotype expression, longitudinal course and diversity in response to treatment. What are key differences in the social and communication domains between individuals with Rett, Fragile X, Angelman Syndromes compared to idiopathic autisms? To what extent is the heterogeneity in single gene disorders similar or different than in idiopathic autisms, for example, in relation to mental health issues? 2. Provide novel insight into the role of complex genetic mechanisms in autism. To what extent do we understand how different genetic etiologies (CNVs, syndromic disorders common variants) contribute to the autism? Can we better understand the role of specific genetic modifiers that result in expression of the core clinical and other symptoms in distinct syndromic and idiopathic autism? 3. Provide a basic understanding of and define the roles for epigenetics in understanding the causes of the autism. How are specific gene X environment interactions relevant to the study of the autisms? How can studies of cancer and other common diseases inform those working on the autisms regarding the roles of gene modification in the disorder process? Are there ways in which clinical and basic studies can integrate efforts to define epistatic and epigenetic factors in the autisms? 4. Examine the common cellular mechanisms that underlie the autisms. Re-examine the disconnection-synapse hypothesis of the autisms through a new perspective of factors that influence synapse formation and maturation. Is the synapse most vulnerable in most brain disorders in general due to the magnitude of the molecular machinery that goes into making, breaking and stabilizing synapses?

Towards Defining the Pathophysiology of Autistic Behavior (Z4)