The research team is investigating the different causes of myositis, particularly focusing on genetic pre-disposing factors, by looking at myositis patient DNA, and finding common genes. The research team was responsible for the first population-based controlled study of serum autoantibody profiles in IBM, which showed that some HLA-DRB alleles are protective, while other alleles are associated with increased risk. Similarly, the research team established that the very long poly-T repeat length in the rs10524523 polymorphism of the mitochondrial TOMM-40 gene is associated with a reduced risk of developing IBM and a later age of symptom onset. Studies on transgenic mice have shown that, although there is increased expression of the β-amyloid precursor protein in muscle, this does not lead to deposition of amyloid or other histological changes typical of IBM.
The research team focuses on finding the best diagnostic techniques to facilitate early diagnosis of IBM as well as exploring the complications of myositis, including respiratory complications.