1.1 Genetic Therapies
8:55 AM – 9:30 AM Speaker: Dr Kevin Flanigan
Director, Center For Gene Therapy – Nationwide Children’s Hospital Biography
Dr. Kevin Flanigan is the Director of The Center for Gene Therapy at Nationwide Children’s Hospital in Columbus, Ohio, where he holds the Robert F. & Edgar T. Wolfe Foundation Endowed Chair in Neuromuscular Research. He is also the director of the NCH Neuromuscular Program, and is the director of the Nationwide Children’s NIAMS P50-funded Center for Research Translation (CORT) in Muscular Dystrophy Therapeutic Development. He trained in Neurology & Neuromuscular Medicine (residency & fellowship) at Johns Hopkins University, pursued a post-doctoral fellowship in Human Molecular Biology and Genetics at the University of Utah, and currently holds appointments as Professor of Pediatrics and Neurology at the Ohio State University. His research focuses on genotype/phenotype correlations in the muscular dystrophies and related disorders, with a goal of identifying new mutations and understanding molecular mechanisms that lead to amelioration of symptoms in order to identify new therapeutic pathways. His laboratory works primarily on AAV-based approaches to gene therapy, including viral-vector based exon skipping and gene replacement.
1.2 Inflammatory Autoimmune Myopathies
9:30 AM – 10:05 AM Speaker: Prof Olivier Benveniste
Head of Internal Medicine Department, Sorbonne Université & Aphp Biography
Olivier Benveniste has the great opportunity to control all the steps of the translational medicine process, from the immediate identification of myositis patients during their clinics or their hospitalization in his national reference centre for rare diseases, the in depth characterization of the patient’ phenotype in a standardized database, their sampling and bio banking (muscle, PBMC, sera), fundamental researches from this biobank (in depth immunoprofiling of PBMC by CyTOF analyses, effect on muscle of myositis specific auto-antibodies, effect on muscle of type 1 interferons, research of new biomarkers…), the definition of the best outcome measures for clinical trials, the physiopathological “bench to the bedside” studies, the development of clinical academic and/or industrial clinical trials, as for example, the rapami trial testing rapamycin (sirolimus) against placebo in inclusion body myositis.
1.3 Metabolic Therapies
10:05 AM – 10:40 AM Speaker: Prof John Vissing
Director, Cmrc Rigshospitalet, University Of Copenhagen Biography
John Vissing is professor of Neurology at the University of Copenhagen, Denmark, and the Director of the Copenhagen Neuromuscular Center at the National Hospital, Rigshospitalet, in Copenhagen. He obtained his MD in 1986. Following graduation from medical school, he was a research fellow at University of Copenhagen and UT, Southwestern Medical Center in Dallas, USA. His research focuses on hereditary muscle diseases. Main research interests are treatment and pathophysiology of metabolic myopathies, discovery of new neuromuscular diseases, myasthenia gravis, rehabilitation of muscle disease including exercise training, MR imaging of muscle, defining outcome measures for natural history and trials and unraveling genotype-phenotype relations in muscle disease.