Professor Christina Mitchell and her team received funding to study the role of FHL1, calcineurin and NFAT in reducing muscle wasting in FSHD. Work from this grant lead to a better understanding of the role of FHL1 in myoblast fusion.
Sydney IVF awarded funding to generate the first embryonic stem cell line with the FSHD mutations. These cells advanced research into FSHD around the world.
Baziel van Engelen and his team received funding to investigate biomarkers for FSHD to help with diagnosis and research into FSHD by providing researchers with markers that will measure treatment effect.
This work was able to characterise muscle features of FSHD that can be measured by MRI. This was part of a larger study that was looking at the effect of exercise and cognitive behavioural therapy for people with FSHD and chronic fatigue.