2013 – Mutations in SMCHD1 are shown to also modify FSHD symptoms in people with FSHD1

FSHD Global provides Davide Gabellini with funds to investigate a new genetic switch for the D4Z4 region called DBE-T. Davide’s group are looking at how DBE-T interacts with the D4Z4 region and whether medicines can be developed that increase the ability of DBE-T to switch off the D4Z4 regions, and therefore reduce the effect of FSHD.

FSHD Global funds Professor Christine Mitchell to investigate medicines that may increase the levels of certain proteins in muscle to help slow decline in FSHD.

FSHD Global funds Professor Silvere van der Maarel and Dr Marnie Blewett (Victoria) to investigate whether increasing the level of SMCHD1 would be an appropriate treatment strategy for FSHD.