Facioscapulohumeral muscular dystrophy (FSHD) is an inherited muscular dystrophy (frequency 1 in 20 000) which is characterised by progressive weakness and wasting of muscles from the face, shoulders and upper-arms. Symptoms manifest in a majority of patients by 20 years of age. FSHD is caused by mutations or complex genetic rearrangements, which activate the expression of the DUX4 gene on chromosome 4.
Dr Alexander Drew is developing bioinformatic tools for the diagnosis of FSHD using whole genome sequencing. This has the potential to replace the current complex and labour intensive methods used for diagnosis of FSHD. This research forms part of a collaboration with Professor Garth Nicholson (Concord Hospital / ANZAC Research Institute), which aims to improve the diagnosis of FSHD, identify additional rare genetic causes of FSHD, and improve our understanding of gene regulation in this disease.