Facioscapulohumeral muscular dystrophy (FSHD) is a complex neuromuscular disorder characterized by progressive weakness and atrophy of specific groups of muscles. Despite significant advancements in research, elucidating the precise pathophysiological mechanisms underlying FSHD remains a challenging endeavor. To tackle this challenge, we developed an integrated and interdisciplinary approach starting from genotype identification to tissue bioengineering to unravel the intricacies of FSHD pathophysiology.
Leveraging advancements in genomic technologies, we uncovered novel genetic variants and modifiers implicated in FSHD, expanding our understanding beyond the canonical genetic defect.
To complement genotype-based studies, we recently developed tissue bioengineering approaches to recapitulate the FSHD phenotype in vitro.
By considering the diversity of patient’s genotype, this interdisciplinary approach offers a comprehensive framework for dissecting FSHD pathophysiology from a molecular to a cellular level for the identification of the molecular cascades driving disease progression toward the development of treatment strategies.

Frédérique Magdinier is invited by Pascal Maire.