Our annual meeting slides, focused on advancements in the neuromuscular field, are now live. Dive into the latest research findings and future plans.
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7th ERN EURO-NMD Annual Meeting presentations
| 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) |