John Hopwood specialises in research to understand the molecular genetics of lysosomal storage disease in humans. His research goal is to enable early diagnosis and effective therapy for all lysosomal storage disorder patients. He was the first to clone the genes that code for the mucopolysaccharidosis group of human lysosomal enzymes. He has developed a novel program to enable newborn screening for lysosomal storage disorders, now believed to have an incidence of one in 1,000 births. The diagnostic service group John established provides cutting edge pre and postnatal lysosomal disease diagnostics. His research has been licensed to commercialise recombinant proteins that have recently gained US Food and Drug Administration approval for the treatment of Hunter and Maroteaux-Lamy syndrome patients where therapies were previously unavailable.

The body as an effective recycler
by Professor John Hopwood

John’s research has focused on the diagnosis and treatment of a group of inherited disorders known as lysosomal storage disorders. Lysosomes are the cells 'recycling centre': they break down complex material to simple products for reuse, to build new complex material needed for life. Storage within the lysosome occurs when the recycling process fails. Parents of a child born with a lysosomal storage disorder can expect to see a healthy baby at birth, but as they grow older they will begin to notice problems such as developmental delay, bone deformities, heart and breathing difficulties, and in two-thirds of patients, behavioural problems or a loss of learned skills such as walking and talking. Severely affected children die by their early- to mid-teens, after years of progressively worsening symptoms.

Lysosomal storage disorders and disorders of lysosomal dysfunction represent a significant health and community issue. More than 50 lysosomal storage disorders – each inherited and resulting from a specific gene defect – have been characterised. In addition, lysosomal dysfunction has been reported for cancers, neurodegenerative disorders such as Alzheimer’s, Parkinson’s and Huntington’s, heart disease and atherosclerosis.

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