Metabolic Medicine


Professor Cox’s group studies the molecular pathogenesis of lysosomal diseases with particular emphasis on the development of effective treatments – he gave the inaugural lecture at the first Gordon Conference on Lysosomal diseases in 2011.  With Dr Deegan, Clinical Director of the National Centre for the treatment and diagnosis of Lysosomal diseases, several clinical trials of substrate reducing drugs, pharmacological chaperones and innovative enzyme therapies are underway, particularly for Gaucher’s disease and Fabry disease.  Dr Stein, in collaboration with Professor Read, has been analysing the 3-dimensional structure of mutant and therapeutic-lysosomal proteins to understand the consequences of the disease-related changes and their susceptibility to therapeutic molecular manipulation – pharmacological chaperones.  Dr Marchesan conducts studies of the molecular targeting and delivery of lysosomal proteins to their sites of action.  With Dr Pavlova, there are studies to investigate the predictive role of cytokine biomarkers for the development of the much-feared bone complications in Gaucher disease; in a cross-sectional collaborative in more than 100 patients with Gaucher disease, we have found that those with a history of sporadic infarction events have higher serum cytokine biomarkers, which respond to enzymatic therapy.

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