Building on recent discoveries on the pathogenic mechanism of Huntinton's disease, the foundations of a gene therapy for this disease have been established : in vitro and in vivo base editing interrupting the CAG repeat region of the gene prevents the somatic amplification responsible for the pathology. Although much remains to be done, this opens the perspective of a gene therapy for this disease.
Michel Fardeau (1929-2024) was the undisputed pioneer of French myology, internationally recognized for his foundational work on congenital myopathies and muscular dystrophies. A leading specialist in neuromuscular diseases, he described several major forms, including desmin-overload cardiomyopathies and deficiencies in sarcoglycan, merosin, and calpain-3, making decisive contributions to the classification and pathophysiological understanding of these disorders. He also initiated the first clinical gene therapy trials for Duchenne muscular dystrophy, marking a milestone in targeted treatments. His scientific approach, combining morphological, biochemical, and clinical perspectives, revolutionized the diagnosis and management of neuromuscular diseases, and his work remains a global reference that continues to inspire researchers and clinicians worldwide.
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