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2018 Annual Meeting | N3 - Neuroscience in the Clinic: Challenges in Genetic Diagnosis in Neurology

Tuesday 04/24/18
01:00 PM - 03:00 PM Add To Calendar
This program will be presented both in-person and online
This program is not expected to be available in the meeting's On Demand product.
Neuroscience in the Clinic Session
Guy A. Rouleau, MD, PhD, FAAN, Massimo Pandolfo, MD, FAAN
Aging, Dementia, and Behavioral Neurology, General Neurology, Movement Disorders, Neuromuscular and Clinical Neurophysiology (EMG)
Participants should become familiar with the issues involved in the interpretation of genetic testing results, including the assessment of the potential pathogenicity of the identified genetic variants and their correlation with phenotype.
2.00 CME credits
Patient Care & Procedural Skills, Medical Knowledge
Trainee, General Neurologist, Specialist Neurologist, Neurohospitalist
Case-based, Interactive, Panel Discussion
Event Timeline
01:00 PM - 01:10 PM Speaker Case Presentation
Meghan Zorn, PA
01:00 PM - 03:00 PM Abstract 001 - Integrated Whole Exome Sequencing and Chromosomal Microarray in Familial Parkinson’s Disease
Laurie Robak, MD, PhD
01:00 PM - 03:00 PM Abstract 002 - Expanding the Genetic Spectrum of Congenital Sensory and Autonomic Neuropathies with Whole Exome Sequencing
Jose-Alberto Palma, MD, PhD, FAAN
01:10 PM - 01:35 PM Speaker Clinical Discussion
Stefan M. Pulst, MD, FAAN
01:35 PM - 02:00 PM Speaker Scientific Discussion
Brent L. Fogel, MD, PhD, FAAN
02:00 PM - 02:15 PM Speaker N3.001: Integrated Whole Exome Sequencing and Chromosomal Microarray in Familial Parkinson’s Disease
Laurie Robak, MD, PhD
02:15 PM - 02:30 PM Speaker N3.002: Expanding the Genetic Spectrum of Congenital Sensory and Autonomic Neuropathies with Whole Exome Sequencing
Jose-Alberto Palma, MD, PhD, FAAN
02:30 PM - 03:00 PM Speaker Panel Discussion
Faculty Disclosures
Guy A. Rouleau, MD, PhD, FAAN Dr. Rouleau has received personal compensation in the range of $500-$4,999 for serving as a Consultant for NovoNordisk. Dr. Rouleau has received personal compensation in the range of $5,000-$9,999 for serving as an officer or member of the Board of Directors for AL-S Pharma.
Massimo Pandolfo, MD, FAAN Dr. Pandolfo has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Design Therapeutics . Dr. Pandolfo has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Biogen. Dr. Pandolfo has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Solid Bio. Dr. Pandolfo has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Neurocrine. Dr. Pandolfo has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Design Therapeutics. Dr. Pandolfo has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Larimar. Dr. Pandolfo has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Neurology Genetics. Dr. Pandolfo has stock in Voyager Therapeutics. The institution of Dr. Pandolfo has received research support from Freidreich Ataxaia Research Alliance. Dr. Pandolfo has a non-compensated relationship as a Scientific Advisory Board with Friedreich Ataxia Research Alliance that is relevant to AAN interests or activities. Dr. Pandolfo has a non-compensated relationship as a Member-Meeting Management Committee with AAN that is relevant to AAN interests or activities.
Stefan M. Pulst, MD, FAAN Dr. Pulst has received personal compensation in the range of $500-$4,999 for serving as a Consultant for venrock. Dr. Pulst has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Arrowhead. Dr. Pulst has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Leverna. Dr. Pulst has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for AAN. Dr. Pulst has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Leninthal LLC. The institution of Dr. Pulst has received research support from NINDS. Dr. Pulst has received intellectual property interests from a discovery or technology relating to health care.
James R. Lupski, MD, PhD Dr. Lupski has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Novartis. Dr. Lupski has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Regeneron Genetics Center.
Brent L. Fogel, MD, PhD, FAAN Dr. Fogel has received personal compensation in the range of $0-$499 for serving as an officer or member of the Board of Directors for National Ataxia Foundation. Dr. Fogel has received personal compensation in the range of $0-$499 for serving as an officer or member of the Board of Directors for Ataxia Global Initiative. Dr. Fogel has received personal compensation in the range of $0-$499 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Neurology Today. Dr. Fogel has received personal compensation in the range of $0-$499 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Neurology Genetics. Dr. Fogel has received personal compensation in the range of $0-$499 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Frontiers in Genetics. Dr. Fogel has received personal compensation in the range of $0-$499 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Genes. Dr. Fogel has received personal compensation in the range of $0-$499 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Neuromarkers. The institution of Dr. Fogel has received research support from the National Institutes of Health. The institution of Dr. Fogel has received research support from the National Ataxia Foundation. The institution of an immediate family member of Dr. Fogel has received research support from the National Institutes of Health, the National Science Foundation, and the Department of Defense. The institution of Dr. Fogel has received research support from US Department of Defense .
Jose-Alberto Palma, MD, PhD, FAAN Dr. Palma has received personal compensation for serving as an employee of Novartis. Dr. Palma has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Clinical Autonomic Research. The institution of Dr. Palma has received research support from National Institutes of Health. Dr. Palma has received publishing royalties from a publication relating to health care.
Laurie Robak, MD, PhD No disclosure on file
Meghan Zorn, PA Ms. Zorn has nothing to disclose.
Horacio C. Kaufmann, MD, FAAN Dr. Kaufmann has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for Theravance. Dr. Kaufmann has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Parexel. Dr. Kaufmann has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Teva Pharmaceuticals. Dr. Kaufmann has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Curasen Therapeutics. Dr. Kaufmann has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Lundbeck. Dr. Kaufmann has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Takeda Pharmaceuticals. Dr. Kaufmann has received personal compensation in the range of $5,000-$9,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Spinger. The institution of Dr. Kaufmann has received research support from Biogen. The institution of Dr. Kaufmann has received research support from Vaxxinity. Dr. Kaufmann has received publishing royalties from a publication relating to health care.
No disclosure on file
Susan Slaugenhaupt, PhD No disclosure on file
Joshua M. Shulman, MD, PhD, FAAN Dr. Shulman has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Helis Medical Foudation. The institution of Dr. Shulman has received research support from National Institutes of Health.