CORDIS Project
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This research focuses on understanding the molecular mechanisms of Facioscapulohumeral muscular dystrophy (FSHD) caused by the mis-expression of the DUX4 gene. The goal is to identify therapeutic strategies to inhibit DUX4 and prevent muscle degeneration.
Facioscapulohumeral muscular dystrophy (FSHD) is the most prevalent muscle disease that indiscriminately afflicts children and adults of all ages and both sexes.
Despite several clinical trials, there continues to be no cure or therapeutic option available to FSHD patients.FSHD is caused by aberrant myogenic expression of the transcription factor double homeobox 4 (DUX4).
In healthy subjects, DUX4 expression is restricted to stem cells and early stages of embryogenesis while being silenced in mo…
OSPEDALE SAN RAFFAELE SRL
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