Neurogenetics FRIDAY OCTOBER 27, 2017

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Neurogenetics FRIDAY OCTOBER 27, 2017 Department of Neurology Fall Symposium: Neurogenetics FRIDAY OCTOBER 27, 2017 https://bit.ly/2fNFmBZ Check in begins at 7:30am Damasio Conference Room University of Iowa Hospitals and Clinics Elevator C, Level 7 PROVIDED BY INTENDED AUDIENCE University of Iowa Health Care Department of Neurology Neurologists, Healthcare Providers, Allied Health, Resi- University of Iowa Roy J. and Lucille A. Carver College of Medicine. dents (current and Former), Fellows, & Students GENERAL INFORMATION OBJECTIVES Upon completion of this program the learner should be able to: • Identify neurogenetic disease of the brain, spinal cord, nerve, and muscle • Utilize the current standards of care for managing these disorders • Describe how to diagnose and differentiate these disorders in a rational manner • Discuss the clinical presentation and management of genetic diseases of the brain, spinal cord, nerve and muscle • Explain advances in translational science for these neurogenetic disorders • Review the underlying etiologies for these disorders and approaches to treatment • Evaluate patients and families with neurogenetic conditions Welcome Reception REGISTRATION A welcome reception will be held Thursday Thanks to several sponsors this years October 26th from 7-9 at the Share Wine Lounge hile symposium is free for all attendees. W & Small Bistro at the Sheraton Iowa City Hotel. registration is open until the start of the conference, we encourage early registration to enable us to provide the Parking best possible service. Parking is available in the hospital and campus ramps at prevailing rates. Print clearly Name ________________________________________________________ Address _____________________________________________________ City _________________________________________________________ State/ Zip ___________________________________________________ Phone ______________________________________________________ E-mail ____________________________________________________ Company or Business Name ______________________________________ Degree ______________________________________________________ Primary Specialty _______________________________________________ FOUR WAYS TO REGISTER + University of Iowa Hospital and Clinics ( Phone: (319) 319-356-8958 Neurology Department Neurogentics Symposium ) Fax: (319) 353-7911 200 Hawkins Dr Iowa City, Iowa 52242 8 Online: HERE or https://medicine.uiowa.edu/neurology/neurogenetics-symposium The University of Iowa requests this information for the purpose of processing your registration. No persons outside the University of Iowa are routinely provided this information. The University of Iowa prohibits discrimination in employment, educational programs, and activities on the basis of race, creed, color, religion, national origin, age, sex, pregnancy, disability, genetic information, status as a U.S. veteran, service in the U.S. military, sexual orientation, gender identity, associational preferences, or any other classification that deprives the person of consideration as an individual. The university also affirms its commitment to providing equal opportunities and equal access to university facilities. For additional information on nondiscrimination policies, contact the Director, Office of Equal Opportunity and Diversity, the University of Iowa, 202 Jessup Hall, Iowa City, IA, 52242-1316, 319-335-0705 (voice), 319-335-0697 (TDD), diversity@uiowa.edu. Individuals with disabilities are encouraged to attend all University of Iowa sponsored events. If you are a person with a disability who requires an accommodation in order to participate in this program, please contact the Neurology Department in advance at (319) 356-8958. PROGRAM FACULTY University of Iowa Faculty Carver College of Medicine Kevin Campbell, PhD George Richerson, MD, PhD Investigator, Howard Hughes Medical The Roy J. Carver Chair in Neuroscience Institute Professor and Chairman, Neurology Director, Senator Paul D. Wellstone Professor of Molecular Physiology and MDCRC Chair Department Executive Biophysics Officer, Department of Molecular Department of Neurology Physiology and Biophysics Roy J. and Lucille A. Carver Biomedical Research Chair Peg Nopoulos, MD Professor of Neurology Professor of Psychiatry, Pediatrics, and Neurology Interim Chair and DEO, Department Shawna Feely, MS, CGC of Psychiatry Certified Genetic Counselor University of Iowa Carver College of Department of Neurology Medicine Tiffany Grider, MS, CGC Certified Genetic Counselor Michael Shy, MD Course Director, Neuromuscular Medicine Department of Neurology Division Director, Charcot-Marie-Tooth Program Ted Abel, PhD Director, Neurogenetics Roy J. Carver Chair in Neuroscience Co-Director, MDA Clinic Professor of Molecular Physiology Co-Director, Iowa Neuromuscular Program and Biophysics Professor of Pediatrics, Neurology, and Professor of Psychiatry Physiology Professor of Biochemistry Department of Pediatrics and Neurology Professor of Psychological and Brain Sciences Department of Molecular Physiology Joel Geerling, MD, PhD and Biophysics Assistant Professor of Neurology Department of Neurology Guest Faculty Christopher Pearson, PhD Senior Scientist, The Hospital for Sick Children Research Institute, Toronto Full Professor, Department of Molecular Genetics, University of Toronto, Toronto Dr. Pearson received his Ph.D. from McGill University (1994) studying DNA replication and protein- cruciform- DNA interactions. He then accepted a post-doctoral fellowship in the Texas Medical Center in Houston to elucidate the mechanism of disease-causing repeat instability in myotonic dystrophy, spinocerebellar ataxia, Huntington’s disease, and fragile X mental retardation. In 1998 he was appointed at The Hospital for Sick Children Research Institute in the Program of Genetics & Genome Biology and cross-appointed to the University of Toronto in the Department of Medical Genetics, advancing to Senior Scientist and Associate Professor in 2004, and has since been promoted to full professor in 2016. In 1999 he was appointed as a Scholar of the Medical Research Council of Canada. In 2001 he was appointed as a Scholar of the Canadian Genetic Disease Network, Canadian Network Centres of Excellence; awarded The Ontario Premier’s Research Excellence Award; and in 2006 received the International Opportunities Award, Canadian Institutes of Heath Research. He has been a Member of International Myotonic Dystrophy Consortium since inception in 1999. He serves on advisory boards for the National Fragile X Foundation USA, National Ataxia Foundation USA, The Canadian Neuromuscular Disease Registry, BioMarin- Prosensa Therapeutics, and has served as an ad hoc scientific advisor for The Marigold Foundation, TREAT-NMD, Cure Huntington’s Disease International, and the Fragile X Research Foundation Canada. He has diligently served the American Society of Human Genetics and been a member of the Awards Committee for the American Society of Human Genetics since 2009 and was Chair of that committee from 2012-13. He has co-organized the International Conference on Unstable Microsatellites & Human Disease for the past eight iterations, since 2002, as well as numerous international myotonic dystrophy meetings. He has been Associate Editor for PLoS Genetics, Journal of Medical Genetics, and Human Genetics (since 2007). Christopher’s laboratory has for the past two decades studied the mechanisms of disease-causing repeat instability associated with neurological, neurodegenereative and neuromuscular disease, with the goal of developing effective treatments. He has published over 80 peer-reviewed studies. DEPARTMENT OF NEUROLOGY 5TH ANNUAL FALL SYMPOSIUM PROGRAM AGENDA FRIDAY, OCTOBER 27, 2017 7:30 a.m. 11:30 a.m. Registration and Breakfast Lunch & Case Study Presentations 1:30 8:00 Cause of Huntingtons; Tri Welcome and Announcements Nucleotide Repeat Disorders Christopher Pearson, MD 2:30 8:15 Genetic Analysis in the Age of CMT: Outcomes to Treatment Next-Generation Sequencing: Michael Shy, MD Navigating Challenges and Communicating with Patients Tiffany Grider, MS, CGC Shawna Feely, MS, CGC 8:45 Gene Therapy in Spinal Muscle Atrophy 3:00 Jerry Mendell, MD Break 9:45 3:30 Sudden Death in Genetic Break Epilepsies George Richerson, MD 10:15 Insights into 4:00 Neurodevelopmental Disorders The Effect of the Huntington’s Gene from Mouse Models on Brain Development Ted Abel, PhD Peg Nopoulos, MD 4:30 1 : 0 45 The Genetic Dystonias Structural Basis of Dystroglycan Annie Killoran, MD, MS Function and the Pathogenesis of Muscular Dystrophy Kevin Campbell, PhD 5:00 Adjourn.
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