Speakers

New Developments in Congenital Myopathies

I.01 Congenital myasthenic syndromes
Hanns Lochmüller

Children’s Hospital of Eastern Ontario, Canada

Hanns is a neurologist and clinical academic specializing in genetic neuromuscular disorders and rare disease. He is a Senior Scientist at the Children’s Hospital of Eastern Ontario (CHEO) Research Institute. He also holds appointments as Professor of Neurology in the University of Ottawa Faculty of Medicine and the Department of Medicine, Division of Neurology at The Ottawa Hospital. Dr Lochmuller has been awarded a Tier 1 Canada Research Chair in Neuromuscular Genomics and Health.

I.02 Titin The newly-emerged “titan” of the cardiac and skeletal muscle disease world
Emily Oates

The University of New South Wales, Faculty of Science, Australia

Dr Oates is a clinical geneticist and neurogenetics consultant. She has over 13 years of experience in the diagnosis and management of children with neuromuscular disorders, heads the UNSW Medical Genomics Team, and specialises in the characterisation of new disorders and the use of advanced sequencing technologies for gene discovery.

I.03 Novel mechanisms and new therapies for congenital myopathies
Jim Dowling

Hospital for Sick Children, Canada

Dr. 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, a Professor of Paediatrics and Molecular Genetics at the University of Toronto, and the Mogford Campbell Family Chair of Paediatric Neuroscience.

I.04 Congenital myopathies in adulthood: the other end of the spectrum
Nicol Voermans

Radboud University Medical Centre, Netherlands

Nicol Voermans has been working in the field of neuromuscular disorders for over 15 years. Her current research focuses on clinical and genetic features of facioscapulohumeral muscular dystrophy, both in childhood and adulthood.

Neuropathies and Non-5q Motor Neuron Disease

I.05 Preclinical testing of emerging therapies for inherited peripheral neuropathies
Robert Burgess

The Jackson Laboratory, United States

The Burgess lab uses mouse models of neuromuscular and neurodevelopmental disorders to understand disease mechanisms and to perform preclinical studies.

I.06 Late onset forms of inherited neuropathies
Michaela Auer-Grumbach

Medical University of Vienna, Austria

Neurologist and neurophysiologist, mainly focuses on inherited neuropathies and neuromuscular disorders, phenotype-genotype correlations and gene discovery.

I.07 Clinical trial readiness across the lifespan in Charcot-Marie-Tooth disease
Kate Eichinger

University of Rochester Medical Center, United States

I am a clinician and clinical researcher at the University of Rochester.  I am involved in selection and standardization of outcome measures for studies involving individuals with neuromuscular conditions.  My interests are in promoting health and wellness and optimizing outcome measures for clinical care and research.

I.08 Motor neuron disease caused by excess sphingolipid synthesis
Payam Mohassel

Johns Hopkins University School of Medicine, United States

Dr. Mohassel is an Associate Professor of Neurology at Johns Hopkins University School of Medicine. Dr. Mohassel’s research focuses on translational studies of neuromuscular disorders, and it spans gene discovery efforts, mechanistic studies to identify therapeutic targets, and early phase interventional clinical trials.

The Development of Therapeutic Approaches

I.09 Improving the safety and efficacy of CRISPR gene editing for Duchenne muscular dystrophy
Melissa Spencer

UCLA, United States

Professor of Neurology and Neuromuscular Program Director, David Geffen School of Medicine at UCLA Los Angeles, California.

I.10 Gene therapy and other novel treatment approaches for CMT
Davide Pareyson

Fondazione IRCCS Istituto Neurologico C.Besta (FINCB), Italy

Dr David Pareyson is a Clinical Neurologist working at the Fondazione IRCCS Istituto Neurologico C.Besta, Milan-Italy. His main interest is clinical research on neurological rare diseases, particularly Charcot-Marie-Tooth disease and related neuropathies. He is or has been Chair (CMTR, ASNP) or Board Member (ENS, PNS, CMTR, EURO-NMD ERN) of National/ International Societies/Committees.

I.11 Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species
Sharif Tabebordbar

Kate Therapeutics, United States

Sharif Tabebordbar is currently co-founder and Chief Scientific Officer (CSO) of Kate Therapeutics, a San Diego based gene therapy company focused on developing AAV-mediated therapies for genetic muscle disease. Dr. Tabebordbar received his Ph.D. in developmental and regenerative biology from Harvard and has developed novel technologies that enable tissue-targeted viral gene delivery.

I.12 Modulating muscle stem cells to enhance regeneration to ameliorate DMD disease progression
Michael Rudnicki

Ottawa Hospital Research Institute, Canada

Michael Rudnicki is a Senior Scientist and the Director of the Regenerative Medicine Program and the Sprott Centre for Stem Cell Research at the Ottawa Hospital Research Institute. He is Professor in the Department of Medicine at the University of Ottawa. Dr. Rudnicki is CEO and Scientific Director of the Canadian Stem Cell Network (SCN). Dr. Rudnicki’s achievements have been recognized by numerous honours including being named a Tier 1 Canada Research Chair, an International Research Scholar of the Howard Hughes Medical Institute for two consecutive terms, a Fellow of the Royal Society of Canada, an Officer of the Order of Canada, and a Fellow of the Royal Society (London). He has been a founder in several spin-off biotechnology companies including Satellos Bioscience.

Debate Clinical trials: Biomarkers or functional outcomes?

Nicol Voermans

Radboud University Medical Centre, Netherlands

Nicol Voermans has been working in the field of neuromuscular disorders for over 15 years. Her current research focuses on clinical and genetic features of facioscapulohumeral muscular dystrophy, both in childhood and adulthood.

Jim Dowling

Hospital for Sick Children, Canada

Dr. 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, a Professor of Paediatrics and Molecular Genetics at the University of Toronto, and the Mogford Campbell Family Chair of Paediatric Neuroscience.

Keynote Lecture

I.15 Neuromuscular Disorders with Founder Effects in French Canada: why, where and how they contribute to the NMD field
Bernard Brais

Montreal Neurological Institute and Hospital, Canada

Neurogeneticist of neuromuscular disorders with an expertise in NMD more prevalent in the French-Canadian population. Director of the Rare Neurological Diseases Group of the Montreal Neurological Institute and Hospital.

WMS Twitter Feed
WMS Facebook Feed