2013 Scientific Meeting

Presentation slides & videos

When: September 19-20, 2013
Where: MIND Institute, University of California Davis

This meeting was financed in part through the generous support of our sponsors. We gratefully acknowledge the support of:

     

Thursday, September 19th

Welcome

Kadi Luchsinger, Guy Calvert

Introduction

Brenda Finucane - History of Dup15q Alliance; Themes and variations in dup15q
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Epigenetic Complexities at the Heart of 15q11-13

Janine LaSalle15q noncoding RNAs involved in topotecan action and diurnal metabolism 

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Discussion Panel: Sleep and Seizures in Dup15q

Moderators: Brenda Finucane 
Panelists: Janine LaSalle, Ron Thibert, Orrin Devinsky, Alessando di Rocco

Keynote Speaker

Ben Philpot - Pharmacogenetic insights into neurodevelopmental disorders



Fundamental Research: Part  1, Stem Cell Models

Joachim Hallmayer - Using iPS cells to understand neurodevelopmental disorders

Stormy ChamberlainInduced pluripotent stem cell models of dup15q: regulation of gene expression and signaling pathways in human neurons
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Larry Reiter - Dental pulp stem cells for the study of duplication 15q syndrome

Fundamental Research: Part 2, Flies, Mice and UBE3A

Matt AndersonNew insight from the Ube3a Transgenic Mouse Model of Idic 15 Autism

Ugo MayorUbe3a, the E3 ubiquitin ligase linked to dup15q autism, regulates protein homeostasis through the proteasome

Larry Reiter Indentification of UBE3A targets that can influence the phenotypes in Angelman
syndrome and 15q duplication autism

Scott Dindot - Development and characterization of transgenic mouse models of dup15q

Fundamental Research: Part 3, Insights from Other Syndromes, Downstream Genes, & Pigs

Brett Abrahams An integrative approach towards the functional characterization of genetic variation at 15q11.2 (BP1-BP2) 

Reymundo Lozano - Lessons learned from the Clinical Trials of Fragile X Syndrome

Robert Nicholls - Prospects for porcine animal models for neurobehavioral disorders

Jamee BergJAKMIP1 is a Novel Component of an FMRP-Associated Translational Complex and Regulates Neuronal Translation

Friday, September 20th

Discussion Panel: Next Steps for Fundamental and Translational Research

Moderators: Brenda Finucane & Janine LaSalle
Panelists: Larry Reiter, Stormy Chamberlain, Brett Abrahams, Matt Anderson, Ben Philpot, Scott Dindot

Autism

Christa Lese MartinDefining copy number variants related to neurodevelopmental disorders
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David SegalZFNs, TALENs and CRISPRs for ASD research (and treatment)
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Ian King - Transcriptional effects of topoisomerase inhibitors on ASD candidate genes
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Grant Belgard - Postmortem brain transcriptomics in chromosome 15q duplication syndrome and idiopathic autism
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Discussion Panel: Characterizing and Treating Autism in Dup15q

Moderators: Brenda Finucane
Panelists: Shafali Jeste, Christa Lese Martin, Rob Ring, Dan Smith, John Spiro, Kathryn McVicar, Sarah Spence

Epilepsy Case Studies and Data Management

Orrin Devinsky - The Dup15q Database: How Far Can We Go?

Ron Thibert - Clinical observations from Massachusetts General Hospital Clinic
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Alessandro di Rocco - Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes
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Discussion Panel: Insights from Clinics and Registry

Moderators: Brenda Finucane & Sarah Spence
Panelists: Ron Thibert, Kathryn McVicar, Orrin Devinsky, Shafali Jeste, David Evans, Tee Viangteeravat, Naga Nagisetty, Alessandro di Rocco, and Kadi Luchsinger