Gene Therapy Developments for CMT Neuropathies
presented by Dr. Kleopas A. Kleopa, Dr. Kathrin Meyer & Dr. Mario Saporta
a 2-hour webinar sponsored by the Peripheral Nerve Society
Wednesday, 16 February 2022
06.00 PST • 08.00 CST • 09.00 EST • 14.00 GMT • 15.00 CET • 23.00 JST • 01.00 AEST (17 Feb)
CMT neuropathies result from variable molecular-genetic alterations in neurons and their axons, or in Schwann cells and the myelin sheath they form, leading to either loss of function or toxic gain of function cellular mechanisms. In order to develop effective therapies, recent developments focus on gene replacement or gene modification strategies. Representative examples of gene therapy proof of concept studies to treat different CMT neuropathies will be presented. For demyelinating neuropathies targeting Schwann cells is crucial to effectively replace non-functional genes as in the case of CMT1X and CMT4C, or to silence overexpressed genes as in the case of CMT1A. For axonal neuropathies, talks will cover the replacement of genes in neurons as in the case of IGHMBP2 for SMARD1/CMT2S or silencing of toxic genes such as NFL mutants associated with CMT2E. Further steps towards scaling up preclinical studies and preparing for clinical translation will also be discussed.
Kleopas A. Kleopa, MD, FAAN, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
Dr. Kleopa is a Professor and Senior Neurologist at the Cyprus Institute of Neurology and Genetics. He cares for patients with inherited and other neuromuscular diseases. He coordinates the Center for Neuromuscular Disorders delivering multidisciplinary clinical care and providing cutting edge therapeutics. Dr. Kleopa also leads the Neuroscience Department focusing on translational research. His research group has made significant contributions to the understanding of neurological disease mechanisms and to the development of cell-targeted gene therapies for inherited neuropathies and leukodystrophies. His work has been recognized by numerous prestigious Awards including the European Academy of Neurology Investigator Award and the Cyprus National Distinguished Researcher Award. He is a Board Member of the International Charcot-Marie-Tooth and Related Disorders Consortium. He also serves as Member of the Scientific Advisory Boards of the USA CMT Association and of the Gilbert Foundation Neurofibromatosis Gene Therapy Initiative.
Kathrin Meyer, PhD, Nationwide Children's Hospital, Columbus, OH, USA
Kathrin C. Meyer, PhD, studied Cellular and Molecular Biology at the Institute of Cell Biology in Berne, Switzerland. Her post-doctoral research was performed in Brian Kaspar’s laboratory at the Center for Gene Therapy in Columbus Ohio. During that time, Dr. Meyer established a new and fast reprogramming method for in vitro modeling of neurodegenerative diseases using patient skin cells. Moreover, Dr. Meyer developed intrathecal gene therapy programs for several neurodegenerative diseases including Spinal Muscular Atrophy and Batten Disease. Multiple clinical trials that are based on this work are currently ongoing at Nationwide Children's Hospital. In 2017, Dr. Meyer became a Principal Investigator at Nationwide Children’s Hospital. She is also an Assistant Professor in the Department of Pediatrics at The Ohio State University, Columbus, Ohio.
Mario Saporta, MD, PhD, MBA, FAAN, University of Miami, Miami, FL, USA
Dr. Saporta is a clinician-scientist and neuromuscular specialist with over 15 years of experience in genetic neuropathy research. He is an Associate Professor of Neurology and Human Genetics and the medical director of the University of Miami CMT Center of Excellence. Dr. Saporta conducts both clinical and translational research in CMT. He is the North America Principal Investigator for the Pharnext Premier trial and he leads a research lab focused on developing and applying human cellular models of CMT for drug discovery and genetic therapy validation.
Michael Shy, MD,
University of Iowa Carver College of Medicine,
Iowa City, IA, USA
Stephan Zuchner, MD, PhD,
University of Miami,
Miami, FL, USA
What does my registration include? Full access to the CMTR webinar on 16 February 2022. PNS members will have access to the recorded content in the On-Demand Education Center post-event.
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