2019 Annual Meeting | N2 - Neuroscience in the Clinic: Interpretations of Genetic Results

Date Monday 05/06/19

Time 01:00 PM - 03:00 PM EDT Add To Calendar

Session Format This program will be presented both in-person and online

On Demand This program is not expected to be available in the meeting's On Demand product.

Event Type Neuroscience in the Clinic Session

Director(s) Karen S. Marder, MD, MPH, FAAN, Massimo Pandolfo, MD, FAAN

Topic(s) General Neurology, Neuromuscular and Clinical Neurophysiology (EMG)

Learning Objectives 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.

CME Available 2.00 CME credits

Core Competencies Patient Care & Procedural Skills, Professionalism, Medical Knowledge

Program Level Intermediate

Recommended Audience Fellow, Resident, General Neurologist, Specialist Neurologist, Non-neurologist, Advanced Practice Provider, Neurohospitalist, Medical Student

Teaching Styles Case-based, Didactic, Audience Participation

Program Materials Program Evaluations

Event Timeline
01:00 PM - 01:05 PM EDT	Introduction	Introduction Massimo Pandolfo, MD, FAAN, Karen S. Marder, MD, MPH, FAAN
01:05 PM - 01:20 PM EDT	Speaker	Case Presentation Nancy Anoja, MSc, CCGC
01:20 PM - 01:40 PM EDT	Speaker	Approaches to Genetic Testing Ruth Ottman, PhD
01:40 PM - 02:00 PM EDT	Speaker	Genetic Testing in Neurological Practice Guy A. Rouleau, MD, PhD, FAAN
02:00 PM - 02:15 PM EDT	Abstract	001 - Assessing ACMG Criteria for the Classification of Reported ALS Gene Mutations: Utility, Pitfalls, and Recommendations Danielle J. Leighton, MD
02:15 PM - 02:30 PM EDT	Abstract	002 - Investigation of TTN Variants in Patients with Limb-Girdle Muscular Dystrophy Identifies Novel Titinopathies Kelly Rich, MS, CGC
02:30 PM - 03:00 PM EDT	Discussion	Panel Discussion Massimo Pandolfo, MD, FAAN, Karen S. Marder, MD, MPH, FAAN

Faculty Disclosures
Karen S. Marder, MD, MPH, FAAN	Dr. Marder has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis. Dr. Marder has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Genentech. Dr. Marder has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Parkinson's Foundation . Dr. Marder has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for CHDI. Dr. Marder has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for PTC therapeutics. Dr. Marder has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Springer LTD. The institution of Dr. Marder has received research support from Vaccinex. The institution of Dr. Marder has received research support from Genentech. The institution of Dr. Marder has received research support from Triplet Therapeutics. The institution of Dr. Marder has received research support from Prilenia.
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.
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.
Ruth Ottman, PhD	No disclosure on file
Nancy Anoja, MSc, CCGC	No disclosure on file
Matthew Harms, MD	Dr. Harms has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Harms has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for Muscular Dystrophy Association. Dr. Harms has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Invitae. Dr. Harms has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Variant Bio. Dr. Harms has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta. Dr. Harms has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Amylyx. Dr. Harms has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for uniQure. Dr. Harms has received personal compensation in the range of $5,000-$9,999 for serving as an Expert Witness for Littlepage Booth. Dr. Harms has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for O'Connor First. Dr. Harms has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Searcy Denney. Dr. Harms has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Ford, Parshall & Baker LLC . The institution of Dr. Harms has received research support from ALS Association. The institution of Dr. Harms has received research support from Ionis. The institution of Dr. Harms has received research support from ALS Finding a Cure. The institution of Dr. Harms has received research support from Target ALS.
Helaina Lehrer, MD	Dr. Lehrer has nothing to disclose.
Siddharthan Chandran	No disclosure on file
	No disclosure on file
Danielle J. Leighton, MD	No disclosure on file
Wendy M. King, PT	Ms. King has nothing to disclose.
Suvankar Pal	No disclosure on file
Bakri Elsheikh, MD, FAAN	Dr. Elsheikh has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen . Dr. Elsheikh has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Argnex . The institution of Dr. Elsheikh has received research support from Biogen. The institution of Dr. Elsheikh has received research support from Cure SMA.
Kelly Rich, MS, CGC	Ms. Rich has nothing to disclose.
Ana Morales	No disclosure on file
Jennifer A. Roggenbuck, MS, CGC	The institution of Ms. Roggenbuck has received research support from Packard Foundation.
John T. Kissel, MD, FAAN	Dr. Kissel has nothing to disclose.

��ɫ��

��ɫ��