11 March 2024
Our annual meeting slides, focused on advancements in the neuromuscular field, are now live. Dive into the latest research findings and future plans.
Access the slides and let’s keep pushing boundaries in neuromuscular science!
Click directly on the session title to download the slides. 👇
| DAY 1 – WEDNESDAY, FEBRUARY 21st |
| Session topic |
| Welcome note Teresinha Evangelista, LoĂŻc 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 LochmĂĽller 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 LochmĂĽller 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 |
|
Session topic |
| IntroductionÂ
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 MĂ©jat (EURORDIS Board member) |
