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Promoting awareness, pioneering research and providing support and information for those affected by Gaucher disease.

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Email: ga@gaucher.org.uk

Completed Research Projects

Report of Research into Transport of Zavesca into the brain

In the July 2009 edition of Gauchers News, we reported on a grant to Dr David Begley from Kings College, London to support work being undertaken to study how Zavesca gets into the brain.  Dr Begley reports on the outcome of this study and offers some observations:

Severity Scoring Tool for nGD

Elin Haf Davies became involved in the Gaucher world when she was recruited to co-ordinate the Zavesca clinical trial for Type III at Great Ormond Street Hospital, London. She identified a need and looked to fill it. During her work on the trial she noticed how hard it was to have an assessment measure that children could comply with, but which gave meaningful data.
It was from this experience, and through gaining knowledge about clinical research while studying for her Masters degree that she decided to develop a new means of assessment that was specific for Type III Gaucher patients. This led to her current PhD studies where she is exploring the use of a Severity Scoring Tool (which she has developed in collaboration with European experts), gait analysis and brain MRI data. Her research is almost complete and will be written up for publication before the end of the year. Elin provides a brief report on her research

Collaborative Bone Study - £163,000

The aim of the study is to document as fully as possible the extent of bone involvement in as many as possible UK Gaucher disease patients. This involves a clinical history and physical examination of the patients with emphasis on mobility, quality of life and pain. The patients’ clinical experience will then be compared with findings on X-Ray, MRI and bone mineral density investigations. More

Results of a Three year study on understanding the molecular mechanism underlying cell death in nGD - £30,000

In 2007, the Association awarded Prof Mia Horowitz of the Department for Cell Research and Immunology at Tel Aviv University a three-year grant to understand the molecular mechanism underlying brain cell death in neuronopathic Gaucher disease. The funds to support this research had been raised by the family of Ellie Carter who died in 2004 aged seven months; Ellie had Type 2 Gaucher disease. This research project completed in August, Professor
Mia Horowitz outlines her research findings and possible ideas for further study"