Methods: diagnostics / genetics of CMT neuropathies
Chairs:
Francesc Palau with Simon Bull
Keynote Talk:
- 11:00 PL2-K: Angelo Schenone (San Martino Hospital and University of Genova, Italy)
Contribute of sensors, robots and AI in the evaluation and rehabilitation of inherited neuropathies
Selected presentations:
- 11:30 PL2-01: Gorka Fernandez-Eulate (Pitié-Salpêtrière University Hospital, France)
Biallelic PIGB variants are a cause of childhood-onset, motor-predominant neuropathy with conduction blocks and neuromyotonia (abstract in pdf, 247 kb) - 11:43 PL2-02: Ayse Candayan (VIB Center for Molecular Neurology, Belgium)
Advancing genetic diagnostics in Charcot-Marie-Tooth disease: Lessons learned from long-read sequencing (abstract in pdf, 215 kb) - 11:56 PL2-03: Pedro José Tomaselli (University of São Paulo, Brazil)
Gradient-boosted discrimination of inflammatory neuropathies from hereditary Charcot-Marie-Tooth disease using motor nerve conduction metrics (abstract in pdf, 224 kb) - 12:09 PL02-04: Liedewei Van de Vondel (University of Miami, USA)
A CCG expansion in TBC1D7 defines a novel neuromuscular disorder – lessons for the next wave of gene discovery (abstract in pdf, 225 kb)
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