Basic sciences and the many faces of CMT
Chairs:
Mary Reilly with Arabela Acalinei
Selected presentations:
- 9:00 PL1-01: Bieke Bekaert (University of Antwerp, Belgium)
Fully human iPSC-derived neuromuscular assembloids to model myelination and neuromuscular features in CMT (abstract in pdf, 219 kb)
- 9:13 PL1-02: Francesc Palau (Sant Joan de Déu Research Institute, Spain)
Biallelic variants in the DARS2 gene as a novel cause of axonal Charcot-Marie-Tooth disease (abstract in pdf, 247 kb)
- 9:26 PL1-03: Koen Kuipers (Hasselt University, Belgium)
ABCA1 inhibition improves Schwann cell maturation and cholesterol deficiency in Charcot-Marie-tooth disease type 1A (abstract in pdf, 220 kb)
- 9:39 PL1-04: Barbara Tedesco (Università degli Studi di Milano, Italy)
Unveiling novel players in HSPB8 pathology caused by frameshift mutations (abstract in pdf, 220 kb)
- 9:52 PL1-05: Stijn in ‘t Groen (University of Antwerp, Belgium)
Bioengineering the neuromuscular junction to investigate CMT2-pathophysiology using hiPSC-derived cell models (abstract in pdf, 214 kb)
- 10:05 PL1-06: Ilaria Quartesan (UCL Queen Square Institute of Neurology, UK)
Long-read sequencing reveals SORD/SORD2P inversions as a common cause of SORD- CMT missed by short-read sequencing (abstract in pdf, 247 kb)
Objectives:
• Setting the stage – Understand better CMT with its many subtypes as one of the most frequent iNMDs and give an overview on new
therapeutic approaches.
• Raise awareness, encourage commitment among the medical profession and the patients to partner.
• prepare material for integrating iNMDs and, in particular, CMT in medical training programs, and for specialized online seminars
Tasks and deliverables:
• Present and explain recent achievements and new challenges in iNMD research – and the role of the patients in the research process
• Discuss symptoms and methods of diagnosis, natural history, and socio-economic impact of various iNMDs
• Prepare recommendations for integrating iNMDs into medical training programs and develop an outline for a new online training program / seminar on iNMDs