The 25th International
Annual Congress of the
World Muscle Society
Young Researcher

CONFIRMED INVITED SPEAKERS


Topic 1 - New developments in congenital muscle disease


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Jim Dowling - Canada
The Hospital for Sick Children (SickKids) and The University of Toronto, Canada
New advances in Centronuclear myopathies

Dr. Jim Dowling is a clinician-scientist focused on gene discovery and therapy development for childhood muscle diseases. He is a staff clinician and senior scientist at the Hospital for Sick Children as well as the Mogford Campbell family chair in paediatric neurosciences, and an Associate Professor of Paediatrics and Molecular Genetics at the University of Toronto.


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Emily Oates - Australia
University of New South Wales / Children's Hospital at Westmead
The emerging world of titinopathies

Dr Oates is a clinical geneticist and clinician-researcher with expertise in the diagnosis and management of neurogenetic disorders, and the analysis of genomic data for gene discovery purposes. Her interests include congenital muscle disorders, titinopathies, and the use of cutting edge genomic and RNA sequencing technologies to further our understanding of muscle development, function and disease.


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Carsten Bönnemann - USA
National Institutes of Health, NINDS/Neurogenetics Branch
Gene discovery for CM/CMD in the multi omics era

Carsten Bönnemann graduated from Medical School in Freiburg/Germany. He trained in child neurology, neuromuscular and genetics at MGH and Boston Children’s Hospital. He is on faculty at Children's Hospital of Philadelphia and in 2010 was recruited to the NINDS/NIH as Chief of the Neuromuscular and Neurogenetic Disorders of Childhood Section.



Topic 2 - Gene modifiers and gene delivery in neuromuscular disorders


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Elizabeth McNally - USA
Northwestern University, Center for Genetic Medicine
Genetic modifiers in LGMDs and beyond

Elizabeth McNally is an expert in the cardiovascular complications of neuromuscular diseases. She has been involved in identifying primary genetic causes of muscular dystrophies and her group has successfully identified genetic modifiers of muscular dystrophies and their cardiac outcomes.


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Susan Treves - Switzerland
Basel University Hospital, Department of Biomedicine
Epigenetic modification in congenital myopathies

Susan a native Italian-US, received her B.Sc and M.Sc in Microbiology and Immunology from McGill University and her PhD in Molecular & Cellular Biology & Pathology from Padova University. She teamed up with her husband to work on skeletal muscle physiology. Their lab located in Basel, focuses on RYR1-related neuromuscular disorders.


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Isabelle Richard - France
Genethon, Dystrophy Laboratory
Gene delivery for LGMDs

Dr. Isabelle RICHARD is a research Director at the CNRS. She is heading the Muscular Dystrophy team within the INSERM unit U951 in Genethon, Evry, France. Isabelle Richard is an expert in neuromuscular diseases. She has published more than 150 scientific papers on genetics of muscular dystrophy, identification of pathophysiological mechanism of the diseases, identification of biomarkers, development of animal models and proof-of principle of therapeutic strategies especially gene therapy. She is now involved in translating different gene therapies for LGMD into the clinics.


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Barry Byrne – USA
University Of Florida
Systemic AAV Delivery Activates the Classical Complement Pathway Leading to Atypical Hemolytic Uremic Syndrome

Dr. Barry Byrne is a clinician scientist who is studying a variety of rare diseases with the specific goal of developing therapies for inherited muscle disease. As a pediatric cardiologist, his focus is on conditions that lead to skeletal muscle weakness and abnormalities in heart and respiratory function.



Topic 3 - Treatment & Therapy approaches


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Frédéric Relaix - France
Institut Mondor, UPEC, INSERM, U955-E10
A rat preclinical model of Duchenne Muscular Dystrophy reveals a key role for skeletal muscle satellite cells in disease progression and therapy

Professor at Paris-Est University, Vice-Dean for research, head of a large team working on muscle stem cells, environment and preclinical research for neuromuscular disorders.


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Charles A. Gersbach - USA
Duke University
CRISPR-Based Genome Editing for Duchenne Muscular Dystrophy

Dr. Charles A. Gersbach is the Rooney Family Associate Professor at Duke University in the Departments of Biomedical Engineering and Surgery, Director of the Duke Center for Biomolecular and Tissue Engineering, and Director of the Duke Center for Advanced Genomic Technologies. His research interests are in genome and epigenome editing, gene therapy, regenerative medicine, biomolecular and cellular engineering, synthetic biology, and genomics.


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Richard Finkel - USA
St. Jude Children's Research Hospital
SMA: update on therapy development and emerging phenotypes

Richard S. Finkel, MD is Director of the Translational Neuroscience Program at St. Jude Children’s Research Hospital in Memphis, USA. Clinical practice and research interests have focused upon SMA, DMD, CMT, and neurometabolic disorders. Dr. Finkel has participated in numerous neuromuscular clinical trials, natural history studies, the development of standard-of-care guidelines; and has contributed to the development of outcome measures and clinical trial design.


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Vincent Timmerman - Belgium
University of Antwerp, Dept of Molecular Genetics, Peripheral Neuropathy Group
Charcot-Marie-Tooth neuropathies: treatment and perspectives

Prof. Vincent Timmerman is molecular biologist at the University of Antwerp (Belgium) and head of the Peripheral Neuropathy Research Group. His research is focussed at understanding the biological consequences of mutant genes associated with inherited peripheral neuropathies, and how this knowledge can be translated towards the development of therapeutic strategies.


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