2023 Annual Meeting | N4 - Neuroscience in the Clinic: Bridging Genetics to the Clinic in Neuromuscular Disease

Date Tuesday 04/25/23

Time 03:30 PM - 05:30 PM EST Add To Calendar

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

On Demand This program will be available in the meeting's On Demand product.

Event Type Neuroscience in the Clinic Session

Director(s) Nicholas E. Johnson, MD, FAAN, Monkol Lek, PhD

Topic(s) Child Neurology and Developmental Neurology

Learning Objectives Participants should become familiar with the advances in genetic discovery and genetic precision therapy in neuromuscular medicine, the issue of variants of unknown significance and how to resolve them, and develop an understanding of genetic precision therapies and get an update on new breakthroughs in the field.

CME Available 2.00 CME credits

Core Competencies Medical Knowledge

Program Level Intermediate

Recommended Audience Resident, General Neurologist, Specialist Neurologist, Advanced Practice Provider, Medical Student

Teaching Styles Other

Event Timeline
03:30 PM - 03:35 PM EST	Introduction	Introduction Nicholas E. Johnson, MD, FAAN
03:35 PM - 03:50 PM EST	Abstract	001 - Deep Mutational Scanning and High-throughput Functional Testing to Resolve Variants of Unknown Significance in Sarcoglycanopathies Gabriel Haller, PhD
03:50 PM - 04:05 PM EST	Abstract	002 - Lessons Learned from a Decade of Parallel Sequencing in Neuromuscular Disorders: RNA splicing variant detection boosts diagnostic rate from 40% to 62%. Sandra T. Cooper, PhD
04:05 PM - 04:20 PM EST	Abstract	003 - Correlating Testing for Rare Genetic Variants with a Broad Clinicopathologic Spectrum of Congenital Myopathies Divya Jayaraman, MD, PhD
04:20 PM - 04:30 PM EST	Discussion	Discussion Nicholas E. Johnson, MD, FAAN, Monkol Lek, PhD
04:30 PM - 04:50 PM EST	Speaker	Genome-wide CRISPR screens to identify druggable pathways in Facioscapulohumeral Muscular Dystrophy (FSHD Monkol Lek, PhD
04:50 PM - 05:05 PM EST	Abstract	004 - Extracellular RNA splice events in cerebrospinal fluid as candidate biomarkers of myotonic dystrophy type 1 Preeti Kumari, MD
05:05 PM - 05:25 PM EST	Speaker	Overcoming barriers to successful translation of AAV based gene therapies Melissa J. Spencer, PhD
05:25 PM - 05:30 PM EST	Discussion	Wrap Up

Faculty Disclosures
Nicholas E. Johnson, MD, FAAN	Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sarepta Therapuetics. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Dyne Therapeutics. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Vertex Pharma. Dr. Johnson has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for ML BIo . Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Avidity. Dr. Johnson has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for Arthex. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Juvena. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Entrada. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Rgenta. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Angle Therapeutics. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for AskBio. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Fulcrum. Dr. Johnson has stock in Angle Therapeutics. Dr. Johnson has stock in Juvena Therapeutics. The institution of Dr. Johnson has received research support from Novartis. The institution of Dr. Johnson has received research support from Takeda . The institution of Dr. Johnson has received research support from AMO Pharma. The institution of Dr. Johnson has received research support from Sarepta. The institution of Dr. Johnson has received research support from Dyne Therapeutics. The institution of Dr. Johnson has received research support from AskBio. The institution of Dr. Johnson has received research support from Pepgen. The institution of Dr. Johnson has received research support from ML Bio. The institution of Dr. Johnson has received research support from Vertex. The institution of Dr. Johnson has received research support from Arthex. Dr. Johnson has received intellectual property interests from a discovery or technology relating to health care.
Monkol Lek, PhD	Dr. Lek has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Scribe Therapuetics. Dr. Lek has received personal compensation in the range of $0-$499 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Disease Model and Mechanisms.
Melissa J. Spencer, PhD	Dr. Spencer has received personal compensation for serving as an employee of Coalition to Cure Calpain 3. Dr. Spencer has received personal compensation in the range of $0-$499 for serving as a Consultant for Eli Lilly. The institution of Dr. Spencer has received research support from Pfizer. Dr. Spencer has received intellectual property interests from a discovery or technology relating to health care. Dr. Spencer has received intellectual property interests from a discovery or technology relating to health care.
	No disclosure on file
Conrad Weihl, MD, PhD	Dr. Weihl has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sarepta. Dr. Weihl has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Casma therapeutics. Dr. Weihl has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Abata. Dr. Weihl 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. Weihl 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. Weihl has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Acceleron. Dr. Weihl has received personal compensation in the range of $5,000-$9,999 for serving as an Expert Witness for Wilson Elser Moskowitz Edelman & Dicker LLP.
Thurman M. Wheeler, MD	Dr. Wheeler has nothing to disclose.
Basil T. Darras, MD	The institution of Dr. Darras has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Amicus. Dr. Darras has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Amicus. The institution of Dr. Darras has received research support from National Institutes of Health/National Institute of Neurological Disorders and Stroke,. The institution of Dr. Darras has received research support from Slaney Family Fund for SMA. The institution of Dr. Darras has received research support from Spinal Muscular Atrophy Foundation. The institution of Dr. Darras has received research support from CureSMA. The institution of Dr. Darras has received research support from Working on Walking Fund . The institution of Dr. Darras has received research support from CHERISH, CS2/CS12 . The institution of Dr. Darras has received research support from Biogen for CS11. The institution of Dr. Darras has received research support from AveXis. The institution of Dr. Darras has received research support from Sarepta Pharmaceuticals. The institution of Dr. Darras has received research support from PTC Therapeutics. The institution of Dr. Darras has received research support from Roche. The institution of Dr. Darras has received research support from Santhera. The institution of Dr. Darras has received research support from Scholar Rock. The institution of Dr. Darras has received research support from Fibrogen. The institution of Dr. Darras has received research support from Summit. Dr. Darras has received publishing royalties from a publication relating to health care. Dr. Darras has received publishing royalties from a publication relating to health care.
Gabriel Haller, PhD	Dr. Haller has nothing to disclose.
Sandra T. Cooper, PhD	Prof. Cooper has stock in Frontier Genomics Pty Ltd. An immediate family member of Prof. Cooper has stock in Frontier Genomics Pty Ltd. The institution of Prof. Cooper has received research support from The National Health and Medical Research Council of Australia. The institution of Prof. Cooper has received research support from The NHMRC Medical Research Futures Fund. The institution of Prof. Cooper has received research support from The Luminesce Alliance for Child Health. The institution of Prof. Cooper has received research support from The Lenity Foundation. Prof. Cooper has received intellectual property interests from a discovery or technology relating to health care. Prof. Cooper has received intellectual property interests from a discovery or technology relating to health care. An immediate family member of Prof. Cooper has received intellectual property interests from a discovery or technology relating to health care.
Edwin P. Conquest III	Mr. Conquest has nothing to disclose.
Ningyan Hu	Mr. Hu has nothing to disclose.
Divya Jayaraman, MD, PhD	An immediate family member of Dr. Jayaraman has stock in Abbvie, Inc.. An immediate family member of Dr. Jayaraman has stock in Abbott Laboratories. An immediate family member of Dr. Jayaraman has stock in Gilead Sciences. An immediate family member of Dr. Jayaraman has stock in Johnson & Johnson. An immediate family member of Dr. Jayaraman has stock in 3M. An immediate family member of Dr. Jayaraman has stock in Pfizer. An immediate family member of Dr. Jayaraman has stock in Viatris. The institution of Dr. Jayaraman has received research support from NINDS Grant # 5R25NS070682-12 .
Preeti Kumari, MD	No disclosure on file