Research
The Association actively promotes research into Gaucher disease. The invitation to apply for a research grant (scientific or clinical) in the field of Gaucher disease appears in Gaucher News and the website. All applications are externally refereed and peer reviewed. All peer reviewed applications are presented to the board of Directors and Executive Commitee members for final approval.
Current and previous research projects
Zavesca uptake into the brain - £11, 300 (awarded January 2009)
Funds raised by two families with children with neuronopathic Gaucher disease have been awarded to support work being undertaken at Kings College to complete a study on Zavesca uptake into the brain more
Gene therapy research in Type 2 Gaucher disease - £4,000 (awarded May 2009)
The Gauchers Association has awarded a grant from funds raised by the Eleanor Lily Foundation to The Royal Free Hospital in London to purchase a batch of viral vectors for use in their gene therapy research in Type II Gaucher disease. Simon Waddington, a Senior Research Fellow in the Department of Haematology at the Royal Free Hospital in London describes the work being carried out more
Collaborative Bone Study - £163,000 (awarded 2003) based and co-ordinated at Addenbrooke's Hospital, Cambridge by Professor Timothy Cox and Dr Patrick Deegan - 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 more .
Neuronopathic Gaucher disease - £30,000 (awarded August 2007)
A three year grant has been awarded to Prof. Mia Horowitz of the Department for Cell Research and Immunology, Tel Aviv University, Israel. The project will contribute towards the understanding of the molecular mechanism underlying brain cell death in neuronopathic Gaucher disease more .
Type 2 Gaucher disease - £2000 (awarded July 2007)
The Gauchers Association has awarded Prof Tony Futerman of the Weizmann Institute, Israel a grant in memory of Emily Downes to further his research program into understanding the pathological mechanisms at work in the brains of type 2 patients, and in particular, in nerve cells more
External funded research projects into Gaucher disease
Neuronopathic Gaucher disease: does LIMP-2 play a role? (2009) - Dr Nicholas Smith is an Australian physician specialising in paediatric neurology. Dr Smith has recently joined the University of Cambridge Lysosomal Storage Disease Research Group led by Prof.Timothy Cox where he plans to study the neuropathology of a variety of lysosomal storage disorders including Gaucher Disease. Dr Smith hopes that a greater understanding of the neurological pathogenesis in these conditions will contribute to the development of improved therapeutic interventions for patients with neurological disease. As part of his work at Addenbrooke’s Dr Smith plans to undertake a collaborative study into the role LIMP – 2: more
Possible links between Gaucher and other blood disorders (2007) - Researchers from the Lysosomal Storage Disorders Unit at the Royal Free Hospital are undertaking a new project which explores the possible links between Gaucher Disease and another blood conditions including Multiple Myeloma. Dr Atul Mehta, Consultant Haematologist at the Royal Free explains the aims of the study
To view all current clinical trials into Gaucher Disease you can visit ClinicalTrials.Gov website
Health Technology Assessment Longitudinal Study into Enzyme Replacement Therapy for Lysosomal Storage Disorders - A three year study funded by the HTA (research arm of the Department of Health) which aims to determine natural history and estimate effcetiveness and cost effectiveness of of current and potential treatment strategies - click here for further information.
Proceedings of the 8th European Working Group on Gaucher Disease - to dowload the PDF click here
PubMed - to find current research papers into Gaucher disease, click here and type in Gaucher Disease in the search box