DUX4 and a subset of its target genes are detected in foetal human FSHD muscle (Broucqsault et al, 2013; Ferreboeuf et al, 2014) and DUX4 is expressed in iPSCs FSHD models of early myogenic specification and myogenesis (Haynes et al, 2017). The gene discussed is DUX4; the disease is facioscapulohumeral muscular dystrophy.