CORDIS Project
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This project aims to understand the molecular mechanisms behind facioscapulohumeral muscular dystrophy (FSHD) to develop potential therapies. It focuses on the epigenetic factors affecting gene expression related to the disease and explores alternative splicing as a therapeutic target.
Our goal is to characterize the molecular pathogenesis of facioscapulohumeral muscular dystrophy (FSHD) in order to develop possible therapeutic approaches. FSHD is the third most important myopathy.
Currently, no therapeutic treatment is available for FSHD.
Unlike the majority of genetic diseases, FSHD is not caused by mutation in a protein-coding gene.
Instead, FSHD is the result of a complex epigenetic cascade activated by deletion of a 3.3 kb subtelomeric non-coding repeat (D4Z4) located on…
OSPEDALE SAN RAFFAELE SRL
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