UNDERSTANDING THE MECHANISM OF CGD AFFECTED CELLS
Professor Cees Otto
University of Twente, Holland
£59,000 over 1 year. Ended in 2006.
This project developed a new technique to measure the precise activity of the oxidase enzyme in single cells. The advantage of this method is that it can measure the activity of the oxidase enzyme without the need for other labelling techniques. This can be done very quickly at about 1 sec per cell so allowing rapid screening of large numbers of cells. This is a good step forward as current methods are based on fluorometric measurements and will only give an average reading of oxidase activity in a large number of cells. This single cell detection method could be of great benefit to assessing the efficacy of gene therapy.
'FINDING OUT HOW THE ENZYME AFFECTED IN CGD WORKS
Dr Miriam Hirshberg,
University of Cambridge and Professor Edgar Pick, Sackler School of Medicine in Tel Aviv, Israel
One year award - £38,754, ended in 2005
Finding out how the enzyme affected in CGD works
This research project studied in great detail the key enzyme that is faulty in CGD and that results in CGD patients being unable to fight certain infections. The most sophisticated and up to date methods were used to help understand how mutations affect the enzyme’s proper way of working. This study helped pinpoint and map important functional parts of the enzyme so that therapeutic drugs can be better designed
UNDERSTANDING THE MECHANISM OF CGD AFFECTED CELLS
Professor Dirk Roos and Dr Cees Otto.
Central Laboratory for the Netherlands Blood Transfusion Service, Holland
3 Year Project Grant: £124,300, ended in 2004
This project improved the understanding of how the mutations that cause CGD affect the working of the enzyme that helps kill some bacteria and fungi. This group in Holland, which has close ties with their UK counterparts, has analysed the functional defects in CGD by confocal microscopy. Confocal microscopy makes it possible to focus on a 3-dimensional CT scan of a single cell, to study the response of single molecules within a cell. By imaging the different parts of the enzyme affected in CGD the research team has found out more about how the enzyme is assembled and activated in normal white blood cells and how these processes are affected in CGD cells. The information gained will have long-term benefit and add to increased knowledge of the CGD enzyme defect so that new drugs can be developed.
IMPROVED DIAGNOSTIC TESTING FOR VARIANT CGD
Professor Anthony Segal.
University College, London
2-Year Project Grant: £75,472, ended in 2004
The purpose of this project is to improve diagnostic testing for variant CGD as this form of CGD can sometimes be miss-diagnosed. In this form of CGD the proteins responsible for fighting infection may be able to function partially but not at a level sufficient to fight off infection. Correct diagnosis is important for counselling and support of the patient and their family and for deciding what therapies would be of long-term benefit. A combination of functional and genetic analyses will be used and this work will lead to better detection of variant CGD so that early and appropriate preventive antibiotic treatment can be started. A world expert leads the project and it is hoped by investigating the genetic mutations present in variant CGD and how these mutations affect the ability of cells to kill microbes that drugs to fight infection can be better designed.
| gp91phox | p67phox | p47phox | p40phox | p22phox | |
| CGD Patient |  |  |  |  |  |
| Healthy Control |  |  |  |  |  |
| This figure shows the results of a diagnostic test of a patient lacking the gp91phox and p22phox components of NADPH oxidase. | |||||
IMPORTANT NOTE :
The information contained on this website is intended only as a guideline, not as a substitute for medical advice. Always consult your doctor if you or your child has any CGD symptoms or concerns.
© 2001-2007 The Chronic Granulomatous Disorder (CGD) Research Trust
Registered Charity No. 1003425 email:cgd@cgdrt.co.uk
The CGD Research Trust is a member of the Association of Medical Research Charities (AMRC), the Genetic Interest Group (GiG) and an associate member of the International Patient Organisation of Primary Immunodeficiencies (IPOPI)
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