个人简介

Professor Platt obtained a BSc in Zoology at Imperial College University of London and a PhD from University of Bath, in Animal Physiology. She was a post-doctoral fellow at Washington University Medical School in St Louis, USA. Since returning to the UK in 1989 (to the Biochemistry Department, University of Oxford) she has focused on how the abnormal accumulation of glycosphingolipids results in pathology in the lysosomal storage diseases.

研究领域

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• Lysosomal storage disorders, pathogenesis and therapy • The effects of lysosomal storage on the immune system • Development of biomarkers for monitoring storage disease patients • Lysosomal dysfunction in more common diseases

The majority of these diseases lack specific disease modifying therapies. We have been studying a subgroup of these disorders for many years, the glycosphingolipid storage disorders, that includes Gaucher, Fabry, Tay-Sachs, Sandhoff and GM1 gangliosidosis. In addition, we have a major interest in Niemann-Pick type C disease, which involves the secondary storage of glycosphingolipids. The underlying disease mechanisms remain incompletely understood and new therapies are urgently needed.