Fascioscapulohumeral dystrophy (FSHD) is the third most common muscle disorder and causes progressive wasting and weakness particularly of the face (fascio), shoulder (scapulo) and arm (humeral).
The genetics of FSHD are complex, and up until now, obtaining a genetic diagnosis for this condition has been difficult, labour intensive and involved multiple laboratory tests. A new diagnostic method, Whole Genome Sequencing (WGS) is able to diagnose many genetic disorders, and may offer a new paradigm for diagnosing FSHD. This project seeks to develop a WGS-based method to diagnose all forms of FSHD and facilitate novel disease gene identification. To overcome the challenging genetics of FSHD pathogenesis, we will develop novel bioinformatic methods, and utilise the brand new Chromium platform from 10x genomics, to help resolve the “D4Z4 repeat” length in FSHD patients. This will also provide valuable insights into the genetic basis and disease mechanisms underlying this disorder. We are also looking at ways to monitor the natural history and disease progression including specialised MRI scans. This will in turn allow design of treatment trials in the future. This project brings together experts in FSHD genetics, diagnostic testing, with clinical WGS and bioinformatics to develop this new test.