Conference intended for scientists, researchers and professionals interested in Duplication 15q Syndrome
When: September 19-20, 2013
Where: MIND Institute
University of California Davis
We've secured a special room rate for meeting participants at the Marriott Courtyard Sacramento
Midtown. For reservations, click here. The group code for the special rate is dupdupa. The hotel
(4222 Y Street, Sacramento) is a short walk from the MIND Institute (2825 50th Street, Sacramento).
There is no fee to register for the meeting. Please fill out the online registration form below. This
meeting was financed in part through the generous support of our sponsors. We gratefully
acknowledge the support of:
Thursday, September 19th
8:00 a.m.Welcome Kadi Luchsinger, Guy Calvert 8:05 a.m.Introduction Brenda Finucane Themes and variations in dup15q 8:30 a.m.Epigenetic complexities at the heart of 15q11-13 Janine LaSalle 15q noncoding RNAs involved in topotecan action and diurnal metabolism 9:10 a.m.BREAK 9:15 a.m.Discussion Panel: Sleep and Seizures in dup15q Moderators: Brenda Finucane Panelists: Janine LaSalle, Ron Thibert, Orrin Devinsky, Alessando di Rocco 10:05 a.m. Keynote Speaker Ben PhilpotPharmacogenetic insights into neurodevelopmental disorders 10:35 a.m. BREAK 10:45 a.m.Fundamental Research: Part 1, Stem Cell Models Moderators: Stormy Chamberlain & Larry Reiter 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 Larry ReiterDental pulp stem cells for the study of duplication 15q syndrome 12:00 p.m. LUNCH Sandwiches catered at MIND 12:45 p.m. Fundamental Research: Part 2, Flies, Mice and UBE3A Moderators: Stormy Chamberlain & Janine LaSalle Matt Anderson New insight from the Ube3a Transgenic Mouse Model of Idic 15 Autism Ugo Mayor Ube3a, the E3 ubiquitin ligase linked to dup15q autism, regulates protein homeostasis through the proteasome Larry ReiterIndentification 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 2:45 p.m.BREAK 3:00 p.m. Fundamental Research: Part 3, Insights from Other Syndromes, Downstream Genes, & Pigs Moderators: Janine LaSalle & Larry Reiter Brett Abrahams An integrative approach towards the functional characterization of genetic variation Reymundo Lozano Lessons learned from the Clinical Trials of Fragile X Syndrome Robert Nicholls Prospects for porcine animal models for neurobehavioral disorders Jamee Berg JAKMIP1 is a Novel Component of an FMRP-Associated Translational Complex and Regulates Neuronal Translation 4:50 p.m. Conclude Day 1 6:00 p.m.Cocktail Reception
Friday, September 20th
8:00 a.m.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 9:00 a.m.BREAK 9:10 a.m.Autism Moderators: Larry Reiter & Sarah Spence Christa Lese Martin Defining copy number variants related to neurodevelopmental disorders David SegalZFNs, TALENs and CRISPRs for ASD research (and treatment) Ian King Transcriptional effects of topoisomerase inhibitors on ASD candidate genes Grant Belgard Postmortem brain transcriptomics in chromosome 15q duplication syndrome 11:00 a.m.BREAK 11:10 a.m.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 12:00 p.m. LUNCH Sandwiches catered at MIND 1:00 p.m.Epilepsy Case Studies and Data Management Moderators: Ron Thibert & Orrin Devinsky Orrin Devinsky The Dup15q Database: How Far Can We Go? Ron Thibert Clinical observations from Massachusetts General Hospital Clinic Alessandro di RoccoParadoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 syndrome involving duplications of the GABRB3, GABRA5 2:15 p.m.BREAK 2:30 p.m.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 4:00 p.m. Conclude Day 2 To register please fill out the form below by Friday, August 30th. Contact firstname.lastname@example.org with any questions.
2013 Dup15q Scientific Meeting
Dup15q Alliance, P.O. Box 674, Fayetteville, NY 13066 USA
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