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

Tuesday 04/25/23
03:30 PM - 05:30 PM EST Add To Calendar
This program will be presented both in-person and online
This program will be available in the meeting's On Demand product.
Neuroscience in the Clinic Session
Nicholas Elwood Johnson, MD, FAAN, Monkol Lek, PhD
Child Neurology and Developmental Neurology
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.
2.00 CME credits
Medical Knowledge
Intermediate
Resident, General Neurologist, Specialist Neurologist, Advanced Practice Provider, Medical Student
Other

Program Materials Program Evaluations

Event Timeline
03:30 PM - 03:35 PM EST Introduction Introduction
Nicholas Elwood 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 Terese 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 Elwood 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 Jan Spencer, PhD
05:25 PM - 05:30 PM EST Discussion Wrap Up
Faculty Disclosures
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.
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.
Alan Beggs, PhD Alan Beggs, PhD has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for F. HOFFMANN-LAROCHE, LTD. Alan Beggs, PhD has received personal compensation in the range of $0-$499 for serving as a Consultant for A Foundation Building Strength. Alan Beggs, PhD has received personal compensation in the range of $500-$4,999 for serving as a Consultant for GLG Inc. Alan Beggs, PhD has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Guidepoint Global. An immediate family member of Alan Beggs, PhD has received personal compensation in the range of $500-$4,999 for serving as a Consultant for UCB Pharma. Alan Beggs, PhD has received personal compensation in the range of $50,000-$99,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Kate Therapeutics. Alan Beggs, PhD has stock in Kate Therapeutics. The institution of Alan Beggs, PhD has received research support from NIH. The institution of Alan Beggs, PhD has received research support from MDA. Alan Beggs, PhD has received intellectual property interests from a discovery or technology relating to health care. An immediate family member of Alan Beggs, PhD has received publishing royalties from a publication relating to health care.
Nicholas Elwood 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.
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 .
Ningyan Hu Mr. Hu has nothing to disclose.
Preeti Kumari, MD No disclosure on file
Gabriel Haller, PhD Dr. Haller has nothing to disclose.
Chengcheng Li, PhD Dr. Li has nothing to disclose.
Sandra Terese 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.
Anne O'Donnell-Luria, MD Ms. O'Donnell-Luria has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Tome Biosciences. Ms. O'Donnell-Luria has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Congenica Inc. Ms. O'Donnell-Luria has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Simons Foundation SPARK for Autism. The institution of Ms. O'Donnell-Luria has received research support from Mather's Foundation. The institution of Ms. O'Donnell-Luria has received research support from Chan Zuckerberg Initiative.
Regina Laine, NP Mrs. Laine has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis.
Emily O'Heir Ms. O'Heir has nothing to disclose.
Wathone Win, Other Ms. Win has nothing to disclose.
Casie Genetti, Other Ms. Genetti has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Kate Therapeutics .
Edwin Parker Conquest, III Mr. Conquest has nothing to disclose.
Preeti *Use 311865 Kumari Dr. Kumari has nothing to disclose.
Jeffrey Alexander Sizemore, Other Mr. Sizemore has nothing to disclose.
Brigham McKee, Other Mr. McKee has nothing to disclose.
Asli *use 384218 Aykanat, MD Dr. Aykanat has nothing to disclose.
Zaheer McClung Valivullah Mr. Valivullah has nothing to disclose.
Lauren Sullivan Ms. Sullivan has nothing to disclose.
Melissa Jan 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.