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Dr Roscoe Brady returned to England in February 2003 to lecture on 'The Past, the Present and the Future of Sphingolipid Storage Disorders' at the Oxford University Museum of Natural History, part of the Distinguished Lecture Series organised by the Dept of Biochemistry, Institute of Glycobiology. Dr Brady was introduced by Dr Fran Platt, both pictured below, and was warmly greeted by scientists, patients and families with Gaucher or Fabry disease, and medical students, writes Susan Noe.
Dr Brady pioneered research in Gaucher disease and other storage disorders discovering the enzyme defect and leading the team that tested enzyme replacement therapy at the National Institute of Health, Maryland, USA.
He spoke about the history of Gaucher disease, describing the ground-breaking research into the biochemistry of the disease, his develop-ment of the enzyme for clinical trials and the targeting of therapeutic enzymes to lipid storing cells.
These achievements led to the development of Ceredase and then Cerezyme as effective treatment for Type 1 Gaucher disease.
He stressed the positive effect that Cerezyme has had on the Gaucher population, citing examples of his own patients who have made wonderful progress and can now live normal healthy productive lives.
Dr Brady described the treatment of Type 3 Gaucher disease with Cerezyme highlighting the beneficial effects within the blood, liver, and spleen and mentioned primate research into delivering the enzyme into the brain to try to target the affected neurons.
Dr Brady then talked about the past and present of Fabry disease. He has been working on a similar pattern of enzyme replacement therapy with a different enzyme which is in its early stages of use but looking hopeful. Two companies manufacture this treatment
The future for lipid storage diseases is now the focus of Dr Bradys thoughts. He discussed substrate deprivation therapy and described an investigation by his group at the National Institutes of Health of OGT 918 (Zavesca) with patients who have Type 3 Gaucher disease.
He said: 'In the test tube OGT 918 can block lipid storage: the question is whether OGT 918 can reverse the damage that happens in the brain'.
Dr Brady talked about gene therapy which was believed to be a long term answer to these genetic conditions. However due to problems with vectors which carry the gene into the body, gene therapy is not progressing as quickly as many would wish.
However Dr Brady was extremely upbeat about the future for patients with sphingolipid storage disorders: 'So much has happened in the last 25 years,' he concluded. 'I look forward to spear-heading more research into the future wellbeing of patients.'
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Source: Gauchers News April 2003.
© Copyright Gauchers Association 2003.