The Schotta Lab

Facioscapulohumeral muscular dystrophy (FSHD) is an inherited progressive neuromuscular disorder. The Gabellini lab could identify WDR5 as critical regulator for aberrant reactivation of DUX4 expression in FSHD, that triggers pathways toxic to skeletal muscle, including inhibition of myogenic differentiation and cell death. WDR5 can be inhibited with a small molecule compound and provides a potential therapheutic intervention for FSHD. We contributed the expression analysis of WDR5 inhibited muscle cells that show reduced activity of the DUX4 gene network.

Nice collaboration in the context of the European Joint Programme Rare Diseases in project EPI4FSHD.

Published now in Nucleic Acids Research