Maladies instables - Sciencesconf.org

›9:30 (20min)

Overview and short history of repeat expansion diseases
Jean-Louis Mandel, IGBMC

›9:50 (35min)

Mechanisms of repeat instability
Christopher Pearson, Hospital for Sick Children/Canada

›10:25 (35min)

SBMA (spinobulbar muscular atrophy): from gene discovery to mechanism and treatment
Kurt Fischbeck, NIH/USA

›11:00 (15min)

Coffee break

›11:15 (35min)

Animal models for Fragile X syndrome and FXTAS: What have they taught us, current and future developments.
Ben Oostra, Erasmus University/The Netherlands

›11:50 (35min)

20 years of anticipation: from mutation to therapy
Keith Johnson, Novartis/USA

›12:25 (35min)

Friedreich ataxia: from GAA repeats to pathomechanisms and therapeutic prospects
Michel Koenig & Helene Puccio, IGBMC

›13:00 (1h)

Lunch

›14:00 (35min)

Overview of current clinical trials in Europe for HD, polyglutamine SCAs (spinocerebellar ataxias) and Friedreich ataxia
Alexandra Durr, Hopital Pitié Salpétrière/ICM/France

›14:35 (35min)

Unexpected mechanisms (antisense transcripts, RAN translation)
Laura Ranum, University of Florida/USA

›15:10 (35min)

Toxic mRNAs mechanisms in myotonic dystrophies and in Fragile X tremor ataxia syndrome (FXTAS)
Nicolas Charlet, IGBMC

›15:45 (10min)

Coffee break

›15:55 (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

›16:20 (20min)

Perspectives of treatment with antisense oligos in Myotonic Dystrophy.
Denis Furling, Institut de Myologie/France