2005
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Scientific program

Friday, May 13th

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GENES AND NEUROMUSCULAR DISEASES (II)

08h30
09h30
Plenary lecture

Jean-Louis Mandel
From myotubular myopathy to the myotubularin family of phosphoinositide phosphatases (1h).

Moderator : Norma Romero (Grand Auditorium)



09h30
11h00
Parallel symposia

" Limb girdle muscular dystrophies " (1h30)

Isabelle Richard
Calpain-3 and Limb-girdle muscular dystrophy type 2A

Hanns Lochmüller
LGMD due to mutations in the FKRP gene

Elizabeth McNally
Mechanisms of degeneration from sarcoglycan gene defects

Guillaume Bassez
Expanding the phenotypic spectrum of dysferlinopathy : clinical and genetic analysis in French patients

Moderators : Adolfo lopez de Munain, Bjarne Udd


" Mitochondrial diseases " (1h30)

Massimo Zeviani
Primary and secondary disorders of mitochondrial DNA

Anne Lombès
Diagnostic strategies of mitochondrial DNA

Patrick Chinnery
Epidemiology of mitochondrial disorders

Pierre Rustin
An update on Friedreich's ataxia treatment

Moderators : Joël Lunardi, Yann Péréon (Grand Auditorium)


" Myasthenia"

Bruno Eymard
Congenital Myasthenic Syndromes (CMS) : experience of the French Network

Sonia Berrih-Aknin
Update in human MG disease

Sara Fuchs
Three decades of experimental autoimmune myasthenia gravis : what have been achieved ? Where are we going ?

Hermona Soreq
RNA-targeted suppression of cholinergic imbalance in neuromuscular junctions and spinal cord neurons

Moderators :
Philippe Gajdos, Jeanine Koenig


Top11h00 - 11h45 : Break



11h45
Plenary lecture

Kevin Campbell
Molecular basis of muscular dystrophy(45 mn).

Moderator :
Fernando Tomé (Grand Auditorium)


Top12h30 : Lunch


13h30
14h30

Plenary symposium

" Duchenne Muscular Dystrophy " (1h)

Jamel Chelly
Molecular basis of phenotypic heterogeneity in dystrophinopathies

Kay Davies
Utrophin in the therapy of Duchenne muscular dystrophy

Stéphane Blot
Canine models of muscular dystrophy. From veterinary descriptions to future therpies

Moderators : Louise Anderson, Mireille Claustres (Grand Auditorium)



14h30
15h30
Parallel symposia

" Exon skipping " (1h)

Judith Van Deutekom
Development of antisens-induced exon skipping for clinical applications in Duchenne muscular dystrophy

Steve Wilton
Antisense therapy for Duchenne muscular dystrophy : a light at the end of a long tunnel ?

Christophe Béroud
UMD - Locus Specific Databases : from molecular data to gene therapy by exon skipping

Moderators : Anna Ambrosini, France Leturcq 5grand Auditorium)


" Cardiomyopathies " (1h)

Jean Léger
Muscle-dedicated DNA chips for cardiovascular diseases

Yves Fromès
Physiopathology and therapeutic options for cardiac disease in myopathies

Denis Duboc
Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy

Michel Pucéat
Transplantation of cardiac-committed xenogeneic embryonic stem cells improves left ventricular function in diseased sheep myocardium

Moderators : Lucie Carrier, Giovanni Nigro





Top15h30 - 16h00 : Break



Top16h:00 - 16h30 : Late breaking news



16h30
17h30
Plenary lecture

Alain Fischer
Rare diseases and gene therapy prospects.

Moderator : Jean-Marie Gillis (Grand Auditorium)

Top17h30 : Concluding remarks. Closing ceremony.
 
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