Keystone Symposia | Scientific Conferences on Biomedical and Life Science Topics

Toward Defining the Pathophysiology of Autistic Behavior (Z4)

Organizer(s): Pat Levitt and Joseph Piven
April 11 - 15, 2010
Snowbird Resort · Snowbird, Utah
Abstract Deadline: December 10, 2009
Late Abstract Deadline: January 6, 2010
Scholarship Deadline: December 10, 2009
Early Registration Deadline: February 11, 2010

Sponsored by Simons Foundation

Joint meeting: Synapses: Formation, Function and Misfunction (Z3)
NOTE: Registration for meeting allows attendance at joint meeting (pending space availability).

This meeting took place in the 2010 season.

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Summary of Meeting
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?

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)	Ballroom 2-3
	* Matthew B. Dalva, University of Pennsylvania

	Michael E. Greenberg, Harvard Medical School 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	Ballroom 2
	* Pat Levitt, Keck School of Medicine
	Joseph Piven, University of North Carolina at Chapel Hill The Syndrome of Autism: Phenomenology

	Patrick Bolton, King's College, London Overview of Medical Conditions Associated with the Autistic Phenotype
	Genevieve Konopka, UCLA Genetics of Autism

	Elizabeth M. Berry-Kravis, RUSH University Medical Center Autism Phenotype in Fragile X Syndrome: A Door to Molecular Pathways and New Targeted Treatment Strategies
	Thomas Portmann, Stanford University Short Talk: Analysis of a Patient-Derived Cellular Model System for Autism Spectrum Disorders
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	Ballroom 2
	* Joseph Piven, University of North Carolina at Chapel Hill
	Randi J. Hagerman, University of California, Davis Molecular Mechanisms of ASD in the Premutation and the Full Mutation

	Mark F. Bear, Massachusetts Institute of Technology Pathogenisis & Treatment of FXS
	Claudia Bagni, Catholic University of Leuven Molecular Aspects of Mental Retardation: Insights from the Fragile X Syndrome
7:00 - 8:00 PM	Social Hour w/ Lite Bites	Superior/Superior Lobby/Wasatch/Maybird
7:30 - 10:00 PM	Poster Session 1	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	Ballroom 2
	* Ben D. Philpot, University of North Carolina at Chapel Hill

	Carolyn Schanen, A.I. duPont Hospital for Children 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 Prader-Willi Syndrome and Other Disorders

	Matthew W. State, Yale Child Study Center Rare Structural and Sequence Variation in Autism Spectrum Disorders
	Toru Takumi, Hiroshima University Neurobiology of Chromosome 15 Copy Variants in Mice
	Michael J. Ronemus, Cold Spring Harbor Laboratory Short Talk: Rare and de novo Mutations in the Simons Simplex Collection
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	Ballroom 2
	* Matthew W. State, Yale Child Study Center

	Alcino J. Silva, University of California, Los Angeles Involvement of mTOR Signaling & Neuropsychiatric Disorders tsc & disc1
	Pat Levitt, Keck School of Medicine MET Receptor Tyrosine Kinase and Social-Emotional Circuit Wiring Relevant to Autism Spectrum Disorder

	Luis F. Parada, University of Texas Southwestern Medical Center Mouse Models as Translational Tools to Discover Treatments for Autism Spectrum Disorders: Focus on Rapamycin
7:00 - 8:00 PM	Social Hour w/ Lite Bites	Superior/Superior Lobby/Wasatch/Maybird
7:30 - 10:00 PM	Poster Session 2	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)	Ballroom 2-3
	* Peter Scheiffele, Biozentrum, University Basel
	Jennifer Darnell, Rockefeller University 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 Regulation of Synapse Number by Fragile X Mental Retardation Protein
	Ben D. Philpot, University of North Carolina at Chapel Hill Angelman Syndrome and Synaptic Plasticity
	Ann Marie Craig, University of British Columbia Molecular Assembly of Hippocampal Synapses

	Jeremy M. Veenstra-VanderWeele, Vanderbilt University Medical Center 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 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	Ballroom 2
	* Alcino J. Silva, University of California, Los Angeles
	Moshe Szyf, McGill University How Early Life Experience Modifies the Epigenome and Affects Mental Health
	Lisa M. Monteggia, University of Texas Southwestern Medical Center International Rett Syndrome Foundation Speaker: Role of MeCP2 and HDACs in Regulating Synapse Function and Behavior

	Courtney A. Miller, The Scripps Research Institute Epigenetics and Memory
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.