The 4th International Meeting on Laminopathies, held in Madrid from 9 to 12 May 2023, brought together researchers and physicians interested in these rare diseases, representatives of the pharmaceutical industry, as well as laminopathy patients and patient organisations from around the world.
The meeting welcomed 166 participants from 24 countries. By providing a forum for the exchange of knowledge and ideas, the primary objective of the meeting was to improve the understanding of the mechanisms leading to laminopathies and to identify avenues for the development of new therapies. The programme included sessions on mechanistic and clinical aspects, the development of new experimental models, biomarker discovery and innovative pharmacological and biotherapeutic therapies.
In addition, patient participation in two of the sessions promoted patient engagement and enhanced the experience of the research community, while providing a platform for patients to voice their concerns and describe the features of the disease that most require interventions to improve their quality of life.
The programme also included brainstorming sessions around old and new hypotheses and ideas as well as unresolved research questions on the mechanistic and clinical aspects of laminopathies.
Researchers from the Institute of Myology were present in significant numbers at this meeting to present their work.
Oral presentations by invited speakers from the Institute:
- Anne Bertrand (team 1, MCR) – Challenges in gene therapy for striated muscle laminopathy
- Gisèle Bonne (team 1, MCR) – Recent insights in the pathophysiological mechanisms of striated muscle laminopathies
- Antoine Muchir (team 9, MCR) – Alteration of cytoskeleton in cardiolaminopathy
- Karim Wahbi (team Registries and Databases) – Future clinical challenges in adult-onset cardiolaminopathies
Oral communications selected on the basis of abstracts:
- Louise Benarroch (team 1, MCR) – Identification of potential genetic modifiers underlying phenotypic variability in a French family with striated muscle laminopathies
- Bruno Cadot (team 2, MCR) – A 3D myotube chip to study muscular diseases
- Valérie Decostre (Neuromuscular Physiology and Evaluation Laboratory, NIC) – Quantification of skeletal muscle strength in laminopathies
- Marine Leconte (team 1, MCR) – DNA damage repair in LMNA-related congenital muscular dystrophy)
- Giusy Pietrafesa (team 9, MCR) – The microtubules plus-end tracking proteins CLIP-170 mediates nuclear shape in Emery-Dreifuss muscular dystrophy
- Mariko Obuko (team 1, MCR) – Gene therapy for striated muscle laminopathy (In vivo study)
- Louise Benarroch (team 1, MCR) – Validation of Myo-converted fibroblasts as a relevant model to study chromatin organization defects in striated muscle laminopathies
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