Vth Japanese-French workshop on muscular dystrophies. June 12 (Thursday)

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1 Vth Japanese-French workshop on muscular dystrophies A challenge to knock out muscular dystrophies June 12 and 13, 2003 Komaba Eminence (TEL +81: ) Ohashi, Meguroku, Tokyo , Japan 9:00 Registration 10:00 Opening remarks June 12 (Thursday) Hideo Sugita Michel Fardeau Ambassade De France, Japan Therapies and tools for further development of therapies Session A: Gene therapy (Chairpersons: Drs M Fiszman and E Ozawa) 10:30 Report on the first gene therapy phase I clinical trial for Duchenne/Becker muscular dystrophy NB Romero, O Benveniste, S Braun, P Squiban, S Herson, M.Fardeau 1 and the Collaborative Research Clinical Study Group 1 Institut de Myologie - INSERM.U582, Groupe Hospitalier Pitié-Salpêtrière, Paris France, 2 Clinical Medicine Department, Groupe Hospitalier Pitié-Salpêtrière, Paris, 3 Transgene S.A. 11 rue de Molsheim Strasbourg Cedex, France 11::00 AAV vector-mediated micro-dystrophin expression in dystrophin-deficient muscular dystrophy Shin'ichi Takeda Department of Molecular Therapy, National Institute of Neuroscience, NCNP Tokyo

2 Session B: Gene manipulation (Chairpersons: Drs G Bonne and S Takeda) 11:30 Treatment of Duchenne muscular dystrophy by correcting a reading frame of dystrophin mrna Masafumi Matsuo 1, Mariko Yagi 1, Makoto Koizumi 2, Ishibashi Kazuto 1, Yasuhiro Takeshima 1 1 Department of Pediatrics, Kobe University Graduate School of Medicine, 2 Sankyo Co., Ltd. Tokyo 11:50 Can negamycin rescue muscular dystrophy? Ryoichi Matsuda, Masayuki Arakawa, and Masataka Shiozuka Department of Life Sciences, Graduate School of Arts and Sciences, The University of Tokyo, Tokyo 12:20-14:00 Lunch Session C: Cell therapy (Chairpersons: Drs J Laporte and Y Goto) 14:00 Transplantation of adult skeletal muscle cells in the heart M Fiszman 1, JT Vilquin 1, JP Marolleau 2, B Pouzet 3, C Carrion 1, I Garcin 1, J. Lucq-Pouly 1, B Ternaux 2, I Robert 2, MN Lacassagne 2, A Hagège 4, D Duboc 5, M Desnos 4, P Menasché 3, K Schwartz 1. 1 INSERM U582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière. 2 Centre de Thérapie Cellulaire, Hôpital Saint Louis. 3 Service de Chirurgie Cardiovasculaire B, Hôpital Bichat. 4 Service de Cardiologie, Hôpital Européen Georges Pompidou. 5 Service de Cardiologie, Hôpital Cochin. 6 Service de Chirurgie cardiovasculaire, Hôpital Européen Georges Pompidou.

3 14:30 Myogenic potential of side population (SP) cells Yuko Miyagoe-Suzuki Department of Molecular Therapy, National Institute of Neuroscience, NCNP Future tools 14:50 New cdna microarray for human skeletal muscles Satoru Noguchi 1,2, Rumi Kurokawa 1,2, Masako Fujita 1,2, Toshifumi Tsukahara 1,2, Atsumi Tsujimoto 2,3, Ichizo Nishino 1,2 1 Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, 2 Core Research for Evolutional Science and Technology (CREST), JST, 3 DNA Chip Research Inc. Tokyo 15:20-15:50 Coffee break Congenital myopathies (Chairpersons: P Guicheney and I Nonaka) 15:50 Autosomal dominant and recessive Central Core Diseases associated with RYR1 gene mutations and presenting as foetal akinesia syndrome Norma Beatriz Romero, Nicole Monnier, Joël Lunardi, Michel Fardeau Inserm U.582 and Institut de Myologie, CHU Pitié-Salpêtrière, Paris; and Laboratoire de Biochimie de l ADN, CHU Grenoble, Grenoble, France 16:10 Selenopathy: A recent and expanding entity A. Ferreiro 1, S. Quijano-Roy 2, N. Petit1, J.-P. Leroy 3, M. Fardeau1 B. Estournet 2, P. Richard 4 P. Guicheney 1. 1 INSERM U523/Institut de Myologie, H. Pitié-Salpêtrière, Paris, France, 2 Service de Neuropédiatrie et Réanimation Infantile, H. R. Poincaré, Garches, France, 3 Service d Anatomie Pathologique, CHU Brest, France. 4 Service de Biochimie B, H. Pitié-Salpêtrière, Paris

4 16:40 Molecular basis of Myotubular Myopathy J Laporte 1 *, A Buj-Bello 1, H Tronchere 2, C Chaussade 3, V Biancalana 4, H Zahreddine 1, V Laugel 1, F Bedez 1, L Pirola 3, B Payrastre 2, JL Mandel 1,4. 1I GBMC (CNRS/INSERM / Universite Louis Pasteur), Illkirch, 2 INSERM U563, Toulouse, 3 INSERM U145, Nice, 4 Laboratoire de Diagnostic Genetique, Strasbourg. 17:10 Adjourn 17:30 Gala party (2,000yen) Welcome greetings Eijiro Ozawa Fernando Tomé

5 June 13 (Friday) Myotonic dystrophy (Chairpersons: M Fardeau and Y Wakayama) 9:00 Myotonic dystrophy and RNA-binding proteins Shoichi Ishiura Department of Life Sciences, Graduate School of Arts and Sciences, The University of Tokyo, Tokyo 9:30 Pathophysiology of myotonic dystrophy: Insights from a mice model with expanded CTG repeats Masanori P Takahashi Department of Neurology, Osaka University Graduate School of Medicine, Osaka 10:00 Molecular mechanisms implicated in the pathophysiology of congenital myotonic dystrophy Denis Furling and Gillian Buttler-Browne UMR 7000, Faculté de Médecine Pitié-Salpêtrière, Université Paris VI, CNRS, Paris Congenital muscular dystrophies and myopathies Session A : Congenital muscular dystrophies (CMD)-1 (Chairpersons: G Butler-Browne and T Shimizu) 10:30 Congenital muscular dystrophies:historical vignettes Fernando Tomé INSERM U.523, Institut de Myologie, Hôpital de la Salpêtrière, Paris 11:00 Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy Tatsushi Toda Division of Functional Genomics, Osaka University Graduate School of Medicine. Osaka

6 11:30 Molecular analysis of alpha-dystroglycanopathy Yukiko K. Hayashi 1, Satoru Noguchi 1, Hiroshi Matsumoto 1, Megumu Ogawa 1, Kumiko Murayama 1, Ikuya Nonaka 2, Ichizo Nishino 1,2 1 Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, 2 National Center Hospital for Mental, Nervous and Muscular Disorders, NCNP, Tokyo 11:50 Identification of a mutant glycosyltransferase for muscle-eye brain disease and its pathomechanism Tamao Endo Glycobiology Group, Tokyo Metropolitan Institute of Gerontology, Tokyo 12:20-14:00 Lunch Session A : Congenital muscular dystrophies (CMD)-2 (Chairpersons: Drs D Hantaï and Y Fukuyma) 14:00 Eye involvement in Fukuyama-type CMD Makiko Osawa 1, Naomi Hino 1, Kayoko Saito 1, Sawako Sumida 1, Makio Kobayashi 2 1 Dept.of Pediatrics, 2 Dept of Pathology School of Medicine, Tokyo Women's Medical University, Tokyo 14:20 Large spectrum of phenotypes associated with mutations in the Fukutin-related protein gene (FKRP) P Guicheney 1, P Richard 2, S Quijano 3, N Louhichi 4, S Makri 5, P Laforêt 1, B Eymard 1, M. Fardeau 1, A Urtizberea 1, N Romero 1 1 INSERM.U582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France 2 Laboratoire de Biochimie Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France 3 Service de Pédiatrie Hôpital de Raymond Poincaré, Garches, France 4 Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, 3029, Sfax, Tunisie.

7 5 Etablissement hospitalier Spécialisé Ali Ait Idir, Hahad, Alger, Algérie 14:50 Collagen VI deficiency is the second leading cause of congenital muscular dystrophy in Japan Ichizo Nishino 1,2, Kazuma Sugie 1, Harumi Ishikawa 1, Satoru Noguchi 1, Megumu Ogawa 1, Yukiko K. Hayashi 1, Ikuya Nonaka 2 1 Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, 2 National Center Hospital for Mental, Nervous and Muscular Disorders, NCNP, Tokyo 15:10-15:40 Coffee break Other myopathies (Chairpersons: Drs F Tomé and I Nishino) 15:40 The Laminopathy saga: one gene, two proteins, up to seven pathologies. Gisèle Bonne, Antoine Muchir, Rabah Ben Yaou, Takuro Arimura, Catherine Massart, Shaida Varnous, Anne Helbling-Leclerc, Ketty Schwartz Inserm U582, Institut de Myologie, G.H. Pitié-Salpétrière, Paris. 16:10 MELAS: overview on 200 patients Yu-ichi Goto, Masakazu Mimaki, Jun Akanuma, Hirofumi Komaki, Ichizo Nishino, Ikuya Nonaka National Institute of Neuroscience, NCNP, Tokyo 16:30 Congenital myasthenic syndromes with rapsyn mutations: pathological characterisation and identification of novel mutations E Yasaki 1, K Gaudon 1, P Richard 1, C Prioleau 1, J Barbier 2, F Andreux 1, S Bauché 1, A Barois 3, C Ioos 1,3, M Mayer 4, MC Routon 4, M Mokhtari 4, JP Leroy 1, E Fournier 1, B Hainque 1, J Molgó 2, J Koenig 1, M Fardeau 1, B Eymard 1, D Hantaï 1 1 INSERM U582, Institut de Myologie, Hôpital de la Salpêtrière,

8 75013 Paris; 2 UPR 9040 CNRS, Gif sur Yvette; 3 Hôpital Raymond Poincaré, Garches; and 4 Hôpital St Vincent de Paul, Paris 16:50 Clinical and genetic heterogeneity of progressive muscular dystrophies in North -American isolates. Urtizberea JA 1, Jackson CE 2, Tomé FMS 1, Beckmann J 3, Bushby K 4, Richard I 5, Fardeau M 1. Institut de Myologie, Paris, France: Hospital H. Ford, Detroit, USA: Department of Genetics, Lausanne, Switzerland: Genethon, Evry, France. 17:10 Aquaporin 4 expression in muscle diseases 17:30 Closing remarks Ikuya Nonaka Marc Y Fiszman Yoshihiro Wakayama 1, Takahiro Jimi 1, Hiroko Kojima 1, Masahiko Inoue 1, Sumimasa Yamashita 2, Toshiyuki Kumagai 3, Seiji Shibuya 1, Hajime Hara 1 1 Department of Neurology, Showa University Fujigaoka Hospital, Kanagawa 2 Department of Neurology, Kanagawa Children s Medical Center, 3 Department of Pediatric Neurology, Aichi Prefectural Colony, Aichi Secretariat: Ikuya Nonaka Tel: (81) Fax: (81)

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