2012 –Some (but not all) instances of FSHD2 are linked to mutations in a gene called SMCHD1.

Over expressing DUX4 in muscle cells is shown to lead to significant changes in the amount of expression of over 700 genes.

FSHD Global funds Professor Scott Harper to study ways of inhibiting DUX4 using RNA interference for the treatment of FSHD.

FSHD Global funds Professor Alexandra Belayew and Professor Steve Wilton (Western Australia) to look at the effect of antisense oligonucleotides to treat FSHD. Antisense oligonucleotides reduce the amount of a target protein, in this case DUX4.