The research undertaken in our labs is focused on disorders that affect the neuromuscular system. In particular, our work is aimed at improving our understanding of the mechanisms involved in motor neuron degeneration and dysfunction in motor neuron diseases such as Amyotrophic Lateral Sclerosis (ALS) and Spinal Bulbar Muscular Atrophy (SBMA). We are also examining the pathological mechanisms underlying forms of peripheral neuropathy such as Charcot Marie Tooth Disease (CMT)/distal Hereditary Motor Neuropathy (dHMN). A key a pathological feature of these disorders is aberrant protein aggregation, and our interest in this pathological mechanism has led us to establish an active research programme investigating Inclusion Body Myositis (IBM), the most common muscle disorder affecting adults over the age of 50. Interestingly, mutations in the gene valosin containing protein (VCP) gene are a cause of both familial ALS as well as a hereditary form of IBM known as Inclusion body myopathy associated with Paget's disease and frontotemporal dementia (IBMPFD), linking IBM with ALS and FTD

We use a multidisciplinary approach in our experiments, examining motor neurons and muscle cells in culture (both primary cells and embroyonic stem cell-derived) as well as in animal models of neuromuscular disease. We also use a wide range of techniques from cellular and molecular biology to whole animal, in vivo systems physiology. This combination of techniques allows us to examine the molecular and cellular changes that take place in cells in culture under highly controllable conditions, which can help us to identify pathological mechanisms which we can then target with a range of potential therapeutic agents or approaches, before moving on to test the validity of our findings in vivo using appropriate animal models. The overall aim of our research program is to help in the development of effective therapeutic strategies for use in the treatment of these debilitating and often fatal neurodegenerative and neuromuscular disorders.