Lysosomal Storage Disorders.
Lysosomal Storage Disorders are rare inherited conditions resulting from the deficiency of a lysosomal enzyme and the subsequent accumulation of its substrate, or storage material. The clinical features of the condition depends on the nature of the accumulating substrate. The conditions are very diverse and there are many unanswered questions regarding their pathogenesis and the determinants of severity.
Our laboratory is interested in the role of inflammatory cell interactions in the pathophysiology of the lysosomal storage disorders including Gaucher and Fabry disease. Major laboratory projects are currently aimed at understanding the pathophysiology underlying Gaucher-related bone pathology, increased incidence of malignancy in Gaucher disease and phenotypic variation in Fabry disease.
Recent publications included the effects of enzyme replacement therapy on the cardiomyopathy of Fabry disease and females with Fabry Disease, the development of an age-adjusted and prognostic scoring systems for Anderson Fabry disease, the pathophysiology of bone complications in Gaucher disease, recommendations for the management of haematological complications of Gaucher disease, and the effect of delayed diagnosis in myeloma.
I am Senior Lecturer in Haematology at University College London, UK, and have clinical responsibilities in the area of haematology and lysosomal storage disorders at the Royal Free London NHS Foundation Trust where I am Clinical Director of haematology, oncology and palliative care.
I have a clinical research commitment and am actively involved in a number of trials examining the efficacy of enzyme replacement therapy and other new therapies in the treatment Gaucher, Fabry, Pompe and MPS disorders. A particular interest relates to the clinical and biological effects of Anderson-Fabry disease in women.
All patients attending the lysosomal storage disorders unit are offered the opportunity to participates in clinical trials or new agents where appropriate to them, or to basic science and registry studies which contribute to our understanding of the mechanisms and clinical features of these rare disorders.
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RPS Widget Placeholderhttps://research-reports.ucl.ac.uk/RPSDATA.SVC/pubs/DAHUG75