Genomics of inherited neuromuscular disorders and beyond: towards the development of novel biomarkers and therapies.

Neuromuscular disorders (NMD) form a large and diverse group of usually genetic diseases affecting spinal cord, peripheral nerve, neuromuscular junction and muscle. Most NMD are 'rare disorders' affecting less than 1 in 2000 individuals but the estimated total of 5000-7000 rare disorders affect 30 million Europeans. Most NMD are chronic, debilitating and often life-threatening resulting in tremendous disease burden for patients and society. The common challenges in NMD are: substantial delays in diagnosis due to lack of reliable diagnostic tools; lack of specialized centres and standards for optimal patient care; lack of fundamental understanding of the mechanisms of disease and the absence of effective therapies. In this project we will focus on inherited disorders of the peripheral nerve and skeletal muscle. First we will conduct large-scale genetic studies to improve patient diagnosis and to increase our understanding of the crucial mechanisms leading to the disease. Secondly we aim to study the striking variability in disease severity of NMD and confront this with the study of patient-derived tissues such as skin and muscle biopsies. This will help in the design of reliable 'disease biomarkers' that can be used to predict severity of disease and can also serve as a tool to follow the response to experimental therapies. Lastly we will use patient derived tissues to help identifying novel targets and strategies for future therapy of NMD.

Keywords:NEUROMUSCULAR DISEASES

Disciplines:Neurosciences, Biological and physiological psychology, Cognitive science and intelligent systems, Developmental psychology and ageing