Methods: diagnostics / genetics of CMT neuropathies
Chair: Francesc Palau with Tim Vangansewinkel
Speaker: Angelo Schenone / Jonathan Baets
Intro talk with discussion 30 min, followed by 5x10 min oral presentations with discussion
Objectives:
• Assess perspectives and new approaches for rapid and reliable diagnosis iNMDs, also as an input for medical training program
• Increase engagement of pharmaceutical companies for research in diagnostics and drug development
Tasks and deliverables:
• Identify methods, e.g. genetic sequencing, histopathological studies, electrophysiological analysis, cell and tissue models, etc., to determine causes and diagnose of various inherited neuromuscular diseases
• Perspectives and conditions for the use of AI in diagnostics, the identification of biomarkers, the prediction of long-term disease progression, the accurate subtype classification, etc.
• Model and incentives for active cooperation of multiple research partners including patients and scientists from pharmaceutical industry, for developing new methods in diagnostics and therapy