Many rare neuromuscular diseases (NMDs) are genetic in origin, the direct result of a mistake in the DNA. One major focus of the research team is to identify the causative DNA changes underlying the NMD in patients both from the North of England, but also worldwide. The first step in this process is to get a detailed family history from the patients themselves and collect a blood sample. We then extract DNA from the blood and use cutting-edge molecular genetic techniques which enable us to get all of the sequences that code for genes very rapidly. High-powered computers convert this data into a human-addressable form and our team of scientists sift through the background variability seen in all human genomes to look for the single causative change.
Once identified, the genetic change in patients enables them to get access to more accurate prognostic and diagnostic information. They may also become eligible for clinical trials which normally require a diagnosis at the DNA level.