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Programme
Semaine
Sam. 09
Liste
Sam. 09
09:00
10:00
11:00
12:00
13:00
14:00
15:00
16:00
Overview and short history of repeat expansion diseases
9:30 - 9:50 (20min)
Overview and short history of repeat expansion diseases
Jean-Louis Mandel, IGBMC
Mechanisms of repeat instability
9:50 - 10:25 (35min)
Mechanisms of repeat instability
Christopher Pearson, Hospital for Sick Children/Canada
SBMA (spinobulbar muscular atrophy): from gene discovery to mechanism and treatment
10:25 - 11:00 (35min)
SBMA (spinobulbar muscular atrophy): from gene discovery to mechanism and treatment
Kurt Fischbeck, NIH/USA
Pause café
11:00 - 11:15 (15min)
Pause café
Animal models for Fragile X syndrome and FXTAS: What have they taught us, current and future developments.
11:15 - 11:50 (35min)
Animal models for Fragile X syndrome and FXTAS: What have they taught us, current and future developments.
Ben Oostra, Erasmus University/The Netherlands
20 years of anticipation: from mutation to therapy
11:50 - 12:25 (35min)
20 years of anticipation: from mutation to therapy
Keith Johnson, Novartis/USA
Friedreich ataxia: from GAA repeats to pathomechanisms and therapeutic prospects
12:25 - 13:00 (35min)
Friedreich ataxia: from GAA repeats to pathomechanisms and therapeutic prospects
Michel Koenig & Helene Puccio, IGBMC
Déjeuner
13:00 - 14:00 (1h)
Déjeuner
Overview of current clinical trials in Europe for HD, polyglutamine SCAs (spinocerebellar ataxias) and Friedreich ataxia
14:00 - 14:35 (35min)
Overview of current clinical trials in Europe for HD, polyglutamine SCAs (spinocerebellar ataxias) and Friedreich ataxia
Alexandra Durr, Hopital Pitié Salpétrière/ICM/France
Unexpected mechanisms (antisense transcripts, RAN translation)
14:35 - 15:10 (35min)
Unexpected mechanisms (antisense transcripts, RAN translation)
Laura Ranum, University of Florida/USA
Toxic mRNAs mechanisms in myotonic dystrophies and in Fragile X tremor ataxia syndrome (FXTAS)
15:10 - 15:45 (35min)
Toxic mRNAs mechanisms in myotonic dystrophies and in Fragile X tremor ataxia syndrome (FXTAS)
Nicolas Charlet, IGBMC
Pause café
15:45 - 15:55 (10min)
Pause café
Use of human embryonic stem cells for development of novel therapeutic strategies in Myotonic Dystrophy Type 1 and in Huntington disease.
15:55 - 16:20 (25min)
Use of human embryonic stem cells for development of novel therapeutic strategies in Myotonic Dystrophy Type 1 and in Huntington disease.
Cécile Martinat, I-STEM/France
Perspectives of treatment with antisense oligos in Myotonic Dystrophy.
16:20 - 16:40 (20min)
Perspectives of treatment with antisense oligos in Myotonic Dystrophy.
Denis Furling, Institut de Myologie/France
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