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SUMMARY:Gaucher disease (with a skeletal perspective) - Prof Timothy Cox (
 University of Cambridge)
DTSTART;VALUE=DATE-TIME:20151214T120000Z
DTEND;VALUE=DATE-TIME:20151214T130000Z
UID:https://talks.ox.ac.uk/talks/id/c05ec63e-7b97-4c63-85b4-f99cf10c5b8a/
DESCRIPTION:\nGaucher disease is a rare inborn lysosomal disorder affectin
 g the metabolism of sphingolipids\; it has been the focus of intense – a
 nd productive - therapeutic research. With the introduction of macrophage-
 targeted enzyme therapy much has been learnt about this highly diverse dis
 order\, which occurs all over the world. \n\nType 1 Gaucher disease\, whic
 h occurs in 90-95% of recorded cases\, is widely regarded as Gaucher disea
 se with no neurological features -although this restriction does not apply
  for newly recognized late Parkinsonian complications. Hitherto the most f
 amiliar presentation is related to disease principally in the macrophage s
 ystem:  there is hepatosplenomegaly\, accompanied by growth retardation\, 
 hypersplenism and marrow failure with cytopenias. \n\nSkeletal features ar
 e frequent\, with osteopenia\, osteoporosis\, episodes of osteonecrosis 
 – as well as osteolytic lesions\, and\, occasionally\, multiple myeloma.
  Before specific therapy was available\, many patients required splenectom
 y to improve their haematological condition\; but while splenectomy induce
 s a risk of infection and can be obviated\, many patients with a history o
 f this intervention have severe and crippling skeletal disease which requi
 res intensive multi-disciplinary care.\n\n Chronic neuronopathic disease (
 type 3) is part of the severe spectrum of the condition: while neurologica
 l features declare themselves early in this sub-variant\, the manifestatio
 ns in the skeleton are prominent causes of pain and disability – and tog
 ether with coincident visceral and haematological disease respond to judic
 ious treatment in the early phases before irreversible injury is establish
 ed.\n\nThe clinical features of Gaucher disease are diverse and pathologic
 al expression is equally varied. However\, even today\, as a multisystem d
 isorder involving complex biochemical and immunological changes\, much of 
 its pathogenesis remains elusive. As with other rare disorders due to chan
 ges at single genetic loci with large effects\, Gaucher disease holds cont
 inued promise for better understanding of human physiology and several oth
 er disorders of universal medical importance.\n\nHere I will review the di
 versity of Gaucher disease and the fascinating evolution of its therapy.\n
 \nSpeakers:\nProf Timothy Cox (University of Cambridge)
LOCATION:Kennedy Institute of Rheumatology (Bernard Sunley Lecture Theatre
 )\, Headington OX3 7FY
TZID:Europe/London
URL:https://talks.ox.ac.uk/talks/id/c05ec63e-7b97-4c63-85b4-f99cf10c5b8a/
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DESCRIPTION:Talk:Gaucher disease (with a skeletal perspective) - Prof Timo
 thy Cox (University of Cambridge)
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