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7th ERN EURO-NMD Annual Meeting presentations
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DAY 1 – WEDNESDAY, FEBRUARY 21st |
Session topic |
Welcome note Teresinha Evangelista, Loïc Carballido and Bertrand Fontaine |
Presentation of ERN EURO-NMD activities
Moderated by Kevin Attal and Davide Pareyson |
Education Teresinha Evangelista |
CPMS Fernanda Fortunato |
Guidelines Michelangelo Mancuso |
EMQN scheme Carla d’Angelo |
Update on the EURO-NMD working groups |
News from the Patient Advisory Board François Lamy |
Update on inter-ERN activities
Moderated by Nicol Voermans and Teresinha Evangelista |
Gene therapy Kleopas Kleopa |
Postgraduate Curriculum on NMDs Marianne de Visser |
Mitochondrial diseases Michelangelo Mancuso |
Channelopathies Robert Lauerer-Braun |
DAY 2 – THURSDAY, FEBRUARY 22nd |
Session |
Registry plenary session
Moderated by Hanns Lochmüller and Teresinha Evangelista |
ERN HCPs participation in the Registry Paris team (APHP) |
Registry structure and functioning platform Freiburg team (UKLFR) |
Registry Hub and FAIRification Radboudumc team |
Update on European projects
Moderated by Hanns Lochmüller and Shahram Attarian |
ERICA Ana Rath (Orphanet – INSERM US14) |
ERDERA/Rare Diseases Partnership Yanis Mimouni (EJP-RD) |
Screen4Care Alessandra Ferlini (University of Ferrara) |
Newborn screening session
Moderated by Susana Quijano-Roy and Ulrike Schara-Schmidt |
Current and future perspectives on NBS Jim Bonham |
Role of the NMDs community in NBS Manuela A. Santos |
NBS for SMA, experience from Poland Maria Jędrzejowska (Medical University Warsaw) |
The NBS workpackage in the Screen4care project Jan Kirschner |
Patients perspective Marie-Christine Ouillade |
Closing remarks |
Satellite symposium
Present and future of Gene Therapy in Neuromuscular Diseases
Session topic |
Introduction
Teresinha Evangelista (APHP, Paris) |
Gene therapy and new avenues – Safety, limitations and new techniques
Francesco Saverio Tedesco (University College London) |
Latest advances and perspectives for the development of gene therapies for NMDs |
Muscle diseases (DMD, LGMD, MTM1)
Serge Braun (AFM-Téléthon/Généthon, Paris) |
Motor neuron diseases:
Jan Kirschner (University of Freiburg) Vincenzo Silani (IRCCS Istituto Auxologico Italiano, Milan) |
Charcot-Marie-Tooth disease and other neuropathies
Kleopas Kleopa (Cyprus Institute of Neurology and Genetics) |
Accessibility to new therapies: the patients’ view
Alexandre Méjat (EURORDIS Board member) |