Towards treatments and diagnostics for neuromuscular diseases
We are a group of researchers working to understand neuromuscular diseases at Ulster University
Our goal is to find better ways to treat and diagnose these diseases
The group's research interests extend across a range of neurological, neuromuscular, and musculoskeletal disorders, with a focus on Amyotrophic Lateral Sclerosis, the most common form of Motor Neurone Disease.
Starting from patient biopsies, we use methodologies that include in vitro cell culture and microscopy, along with antibody-based molecular assays, high-throughput omics technologies, and computational analytical approaches.
ALS has an average age of onset at 55-70 years old, and current treatments are only minimally effective, with a life expectancy of 2-5 years from the time of diagnosis. Diagnosis is difficult and time consuming, requiring numerous clinical assessments and taking up to 15 months to confirm. The cause of motor neuron cell death in ALS is unclear, and may arise from pathological changes in the motor neurons themselves, or in processes that go wrong in other types of cell or tissue.
Research by the Duguez lab has found that the release of tiny bubble-like structures called vesicles is abnormal in the muscles of ALS patients: vesicles from ALS patient muscle cells are toxic to motor neuron cells in the lab. Since these vesicles enter the bloodstream, these findings could ultimately enable clinicians to diagnose ALS from a simple blood draw. Furthermore, since the vesicles carry neurotoxic contents, it is possible to target them with drugs, thus offering a novel therapeutic approach to slow down or stop the disease.
Muscle vesicles may prove useful as biomarkers and drug targets for a range of health conditions. Cross-talk between muscle and different types of cells is understudied, has general relevance to many hallmarks of both ageing and neuromuscular disorders, and may have important roles beyond – so the group's broader outlook is to address the understudied role of muscle as a secretory tissue, with relevance to a wide range of diseases and healthy ageing.
We are deeply grateful for the support of these organizations