Vendredi 30 mai 2008
Ce programme est réactualisé en permanence en fonction des réponses des conféreniers sollicités.
Journée commune avec le 5ème Congrès International de Rééducation dans les maladies neuromusculaires.
Thème du jour : Thérapeutiques
matinée - thème : stratégies thérapeutiques issues de la connaissance des gènes |
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| 8h30 8h45 |
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|---|---|
| 8h45 9h30 |
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| 9h30 10h15 |
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| 10h15 10h45 |
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| 10h45 12h15 |
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“Application of Exon skipping or reintroduction" (Auditorium)Modérateurs : Anne d'Andon Judith van Deutekom (Pays-Bas) : Pre-clinical and clinical development of 2OMePS antisense oligonucleotides for Duchenne Muscular Dystrophy Luis Garcia (France) : Muscle function recovery in dystrophic dog after exon skipping gene therapy Daniel Schumperli (Suisse) : Correction of SMN2 splicing by a bifunctional U7 snRNA complements a severe mouse model for SMA |
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“Building tools” (Salle Endoume)Modérateurs : Kevin Flanigan et Eugenio Mercury Christophe Béroud (France) : Knowledge bases to facilitate therapeutic approaches Serge Pauschkin (Etats-Unis) : Post-transcriptional control : a new paradigm for the treatment of SMA Gideon Dreyfuss Etats-Unis) : Molecular functions of SMN and high throughput for drug discovery for SMA |
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“Potential new avenues” (Amphithéâtre Callelongue)Modérateurs : Guillaume Bassez et Denis Furling Jean-Pierre Cabaniols (France) : Meganucleases for genome surgery of inherited diseases Alexandra Belayew (Belgique) : Homeodomain transcription factors DUX4, PITX1 and DUX4C : new actors in the molecular mechanism of FSHD Jack Puymirat (Canada) : Targeting of mutant DMPHK transcripts in mouse model of myotonic dystrophy type 1 |
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| 12h15 13h45 |
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APRÈS-MIDI - THÈME : ÉVALUATION DU MALADE NEUROMUSCULAIRE |
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| 12h15 13h45 |
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|---|---|
| 13h45 14h30 |
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| 14h30 15h15 |
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| 15h15 16h00 |
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| 16h00 16h30 |
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| 16h30 17h30 |
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“Scales for assessment of neuromuscular diseases” (Auditorium)Modérateur : Nadine Pellegrini Carole Bérard (France) : The Motor Function Measure, an outcome measure adapted to most neuromuscular diseases Richard Finkel (Etats-Unis) : Scales for assessment of neuromuscular diseases, Spinal Muscular Atrophy Michelle Eagle (Royaume-Uni) : The North Star Ambulatory Assessment |
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| 17h30 18h30 |
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“Evaluation of the quality of life” (Auditorium)Modérateur : Kate Bushby Michael Rose (Royaume-Uni) : Measuring and understanding quality of life in adult muscle disease Jes Rahbek (Danemark) : Experiences with Quality of Lile measurements in Denmark François Boyer (France) : Conceptual approaches of the quality of life measurements used in medicine (neuromuscular patient reported outcomes) |
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“Others aspects of muscle function assessment” (Amphithéâtre Callelongue)Modérateur : Michel Toussaint Birgit Steffensen (Danemark) : The "Egen Klassifikation" (EK) revisited Vincent Gautheron (France) : Functional Independence Measure (MIF ™) Pierre Yves Jeannet et Anisoara Ionescu (Suisse) : Objective quantification of daily physical activity pattern in children with Duchenne and Becker muscular dystrophies |
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