[Laminopathies: rare diseases, major challenges. Highlights from the 5th International Meeting on Laminopathies]
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Published on: July 29, 2007
1Sorbonne Université, Inserm, Institut de Myologie, Centre de recherche en myologie, Paris, France.
Abstract:
The 5th International Meeting on Laminopathies was held from May 21 to 23, 2025, at the historic Cordeliers Campus of Sorbonne University in Paris, France. This highly anticipated event brought together a vibrant and interdisciplinary community including clinicians, geneticists, researchers, industry representatives, and patient advocates from across Europe and beyond. The conference served as a dynamic platform for sharing the latest discoveries and clinical advances in the study of laminopathies, a heterogeneous group of rare, inherited diseases caused by mutations in genes encoding nuclear envelope proteins, most notably LMNA. Given their multisystemic nature and rarity, laminopathies pose significant challenges for both diagnosis and management, underscoring the importance of multidisciplinary approaches and international collaborations. Over the course of three days, the meeting featured a comprehensive scientific program promoting the exchange of knowledge between stakeholders in basic research, clinical practice, and translational medicine. This report provides a summary of the most impactful scientific insights, emerging therapeutic strategies, and highlights the increasing integration of the patient perspective, a key theme that ran throughout the meeting and reflects a broader movement toward patient-centered rare disease research and care.
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