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Autism Spectrum Disorder: From Genes to Circuits to Behavior

Autism Spectrum Disorder: From Genes to Circuits to Behavior

Wednesday, March 20, 2013

The New York Academy of Sciences

Presented By

Presented by Brain Dysfunction Discussion Group at the New York Academy of Sciences


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.

Registration Pricing

Student/Postdoc Member$0
Nonmember (Student / Postdoc / Resident / Fellow)$20

The Brain Dysfunction Discussion Group is proudly supported by

Mission Partner support for the Frontiers of Science program provided by Pfizer


* Presentation titles and times are subject to change.

Wednesday, March 20, 2013

12:00 PM

Welcome and Introduction
Jennifer Henry, PhD, The New York Academy of Sciences
John Spiro, PhD, Simons Foundation

12:10 PM

Updating and Defining the Genetic Landscape
Stephan Sanders, MD, Yale University School of Medicine

12:50 PM

Defining the Behavioral Repertoire in Mice with ASD Construct Validity
Laurence Tecott, MD, PhD University of California, San Francisco

1:30 PM

A New Angle on Angelman Syndrome Therapeutics
Ben Philpot, PhD, University of North Carolina, Chapel Hill

2:10 PM

Coffee break

2:40 PM

Update on MEG Imaging and Potential Biomarkers for ASD
Tim Roberts, PhD, The Children's Hospital of Philadelphia

3:20 PM

Fragile X Syndrome: Genes to Circuits to Clinical Trials
Paul Wang, MD, Seaside Therapeutics

4:00 PM

Networking reception

5:00 PM




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


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.


Promotional Partners

American Academy of Neurology

Asperger Syndrome & High Functioning Autism Association

The Dana Foundation

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 Pfizer


Updating and Defining the Genetic Landscape
Stephan Sanders, MD, Yale University School of Medicine

Autism is a severe disorder that affects 1 in 88 children in the USA. Since autism is highly heritable identifying the specific genes responsible offers a promising route to understanding the etiology and, ultimately, developing effective treatments. Progress in identifying the genes responsible has been slow, however recent advances in technology have allowed scientists to examine the genome in unprecedented detail. Three types of genetic variation have been convincingly associated with autism: De novo (new variations in DNA seen in a child, but not seen in either parent) copy number variants (large regions of DNA that are deleted or duplicated); de novo loss of function mutations (small changes in DNA that stop one copy of a gene working); and inherited homozygous loss of function variants (i.e. gene knockouts). In this talk Dr. Sanders will review the evidence linking these variants with autism, the specific genes involved and the implications for understanding the cause of autism.

Defining the Behavioral Repertoire in Mice with ASD Construct Validity
Laurence Tecott, MD, PhD, University of California, San Francisco

The introduction of genes conferring susceptibility to autism spectrum disorders (ASD) into mice provides valuable opportunities for determining how genes implicated in ASD impact brain function and behavior. The utility of these models depends to a substantial extent on the quality of rodent behavioral assessment methods, and most are subject to limitations relating to circadian factors, animal handling, interpretation, and throughput. To enhance the extent to which the behavioral impact of genetic factors may be determined, we have developed a novel bioinformatics-based approach that probes high-resolution behavioral datasets to reveal patterns that comprise mouse "lifestyles." We are now applying this approach to examine the impact of genes associated with ASD on the behavioral repertoire of the mouse. The presentation will address the foundations of this technology, its application to an ASD-relevant mouse model, and strategies for developing hardware and software to further enhance its utility for quantitative assessment of ASD-related behaviors.

A New Angle on Angelman Syndrome Therapeutics
Ben Philpot, PhD, University of North Carolina, Chapel Hill

Angelman syndrome (AS) is a debilitating autism spectrum disorder for which no effective treatment or cure currently exists. AS is caused by maternal deletions or mutations of a single gene, the E3 ubiquitin ligase UBE3A. The UBE3A gene is expressed monoallelically in neurons due to epigenetic silencing of the paternal allele, so losing function of the maternal allele eliminates UBE3A protein. Motivated by this biology, we hypothesized that neural and behavioral dysfunctions associated with AS could be treated by unsilencing the intact paternal UBE3A. Towards this goal, we developed the first-ever screen to identify small molecule compounds that can unsilence an imprinted gene. This seminar will discuss the assay development, drug screen, target identification, and pre-clinical testing of potential AS therapeutics that arose through our novel drug discovery approach.

Update on MEG Imaging and Potential Biomarkers for ASD
Tim Roberts, PhD, The Children's Hospital of Philadelphia

Background: Brain level traits, or endophenotypes, of ASD may serve as diagnostic or prognostic biomarkers. MEG provides a neurally-sensitive imaging modality combining spatial and high temporal resolution. Perhaps more importantly, such brain measures may identify neural systems that lend themselves (1) to patient stratification and thus improve group homogeneity (stratification biomarkers), (2) to measuring therapeutic response, and (3) in translation to the preclinical environment where behavioral analogy is an important, but limited tool.
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

In the 20 years since the genetic etiology of Fragile X syndrome (FXS) was first described, advances in molecular biology and neuroscience have led to the illumination of the pathophysiology of FXS. Genetic and pharmacologic rescue experiments in animal models of FXS have provided a rational foundation on which to develop potential therapies for patients with FXS. While the clinical translation of basic research advances will be enormously challenging, trials of mGluR5 and GABA-B agents are now underway in children and adults with FXS. Research also suggests that many cases of autism spectrum disorder (ASD) share aspects of their pathophysiology with FXS, motivating trials of the same agents in the broader ASD population.

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