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Dr Derralynn Hughes
Department Haematology, Royal Free Hospital
Pond St.
London
NW3 2QG
Tel: 02077940500
Appointment
  • Senior Lecturer
  • Research Department of Haematology
  • Cancer Institute
  • Faculty of Medical Sciences
Research Summary
Our major research interests concern the pathophysiology of the lysosomal storage disorders Gaucher's and Fabry Disease. We work closely with the clinical unit managing the patients with these conditions.
In most lysosomal storage disorders an inherited deficiency of a specific lysosomal enzyme results in the accumulation of undegraded substrates within the lysosome. In others, accumulation of storage product results from the deficiency or malfunction of activator proteins, transport proteins or enzymes responsible for the processing of other lysosomal macromolecules. Storage product within the lysosomes causes disruption of cellular organization and disturbance of normal function. Different lysosomal storage diseases have characteristic organ distribution patterns of the abnormal metabolites and therefore recognizable pathological manifestations.
The glycolipid storage disorders such as Gaucher's disease, Anderson-Fabry disease and Tay-sachs disease are caused by deficiencies of specific lysosomal acid hydrolases leading to progressive accumulation of glycosphingolipid in a variety of cell types. Specifically, Gaucher's disease is an autosomal recessive condition caused by a deficiency of glucocerebrosidase resulting in the accumulation of glucosyl ceramide within tissue macrophages. Anderson Fabry disease is an X-linked defect of alpha galactosidase A and the storage product globotriacylceramide is found in most body cells. Both disorders have multisytem manifestations and understanding of their natural history has recently improved but whilst treatment with replacement enzymes is now available little is known of the underlying pathophysiology resulting in the disease phenotype. This is of particular importance in those aspects of the pathology which respond poorly to treatment with recombinant enzyme.

Our study aims to improve our knowledge and understanding of the way in which glycosphingolipid accumulation affects cellular physiology.

Current Projects:

1. Cellular mechanisms of pathology in Gaucher and Fabry Disease with specific interests in the mechanisms underlying the incidence of haematological malignancy in Gaucher Disease and pathology of the female carrier in Fabry Disease.
2. The role of leucocyte endothelial interactions in the pathophysiology of Fabry Disease.
3. Mechanisms of anaemia in Gaucher and Fabry Disease
4. The mechanisms underlying bone pathology in Gaucher Disease.
Teaching Summary
Trust speciality training director for haematology; supervision of graduate students
Academic Background
2005 MRCPath Member of the Royal College of Pathologists – Haematology Royal College of Pathologists, UK
2000 MRCP Member of the Royal College of Physicians – Medicine Royal College of Physicians
1997 BM BChir Bachelor of Medicine/ Bachelor of Surgery – Medicine University of Oxford
1994 DPhil Doctor of Philosophy – Pathology University of Oxford
1990 BA Bachelor of Arts – Physiological Science University of Oxford
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