The aim of this project is to develop a one-experiment method for measuring all potential biomarkers from one sample. This method is intended to address the current shortage of validated biomarkers for genetic diseases such as neuromuscular disorders.
For this purpose, the project team uses blood samples from patients at various stages of neuromuscular diseases, as well as medically treated patients, to identify and validate biomarkers. Subsequently, a reliable quantification of different dystrophin isoforms is to be enabled in order to document the diagnostic potential of the method and at the same time to collect information on the curative effect of different therapies on Duchenne muscular dystrophy (DMD). Overall, the project partners aim to develop a new, targeted method that reliably quantifies proteins and lipids from human body fluids. In particular, dried bloodspots are to be established as samples, since they offer the unique possibility of following the course of a disease and the success of a therapy by employing a minimally invasive technique. The readout assay, which is to be developed during the course of the project, could be a major step towards a personalised treatment strategy for neuromuscular diseases.