A total of £174,976 will be awarded to fund three important projects for 2010. The chosen projects will help develop greatly needed new model systems for studying human CGD, further advance gene therapy for CGD and will help more fully understand the structural interplay between two important parts of the oxidase enzyme affected in CGD. This funding was made possible through the proceeds of the Jeans for Genes campaign in 2009.
Using Induced Pluripotent Stem Cell Technology to Model Human CGD Disease.
Lyle Armstrong, William James, Reinhard Seger and Majlinda Lako. Institute of Human Genetics and The North East England Stem Cell Institute, Newcastle University; Sir William Dunn School of Pathology, University of Oxford and University Children’s Hospital, Zurich. £99,976 over two years.
This project, at the cutting edge of scientific advances, will generate new models for studying human CGD. Skin cells from people with CGD will be reprogrammed in the laboratory to become more primitive cells that are capable of generating many different cell types. Powerful methods will be used to instruct these cells to turn into bone marrow stem cells and other cells of the immune system. The cell lines generated, carrying different CGD defects, will be invaluable for screening tools for drugs and testing gene therapy strategies. Once generated. the cell lines will be made available for all researchers to use.
‘The development of human CGD stem cell lines will provide great potential for groups worldwide to take CGD research forward’. Dr Roy Evison, CGDRT Trustee.
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Developing Novel Gene Therapy of X-CGD by Targeted Correction in Patient-specific Induced Pluripotent Stem Cells.
Linzhao Cheng, Harry Malech and Jizhong Zou. Johns Hopkins University- School of Medicine, Baltimore and Laboratory of Host Defences, National Institute of Allergy and Infectious Diseases, National Institutes of Health, USA. £50,000 over one year.
The project will explore an exciting new approach to gene therapy. Special DNA-scissor proteins, called zinc finger nucleases (ZFNs), will be used to cut specific DNA sequences, that carry the mutations that cause CGD. This process stimulates the cells’ own DNA repair machinery to correct the genetic mutation using a normal copy of DNA delivered into the cells by different types of ZFNs. The technology will be tested using induced pluripotent stem cell models of CGD.
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Xminus Chronic Granulomatous Disease Variants, Powerful Models to Study the Cytochrome b558 Synthesis Process in Neutrophils.
Marie-José Stasia and Marie-Claire Dagher. UMR CNRS 5525, Université Joseph Fourier, Grenoble, France. £25,000 over one year.
This basic research project will study mutations in a rare form of CGD, collectively known as Xminus CGD variants. These patients have defects in gp91phox synthesis that leads to them having only partial or no oxidase activity. They provide a valuable insight into how the oxidase enzyme that is affected in CGD and essential for fighting infections, works. The project will identify and study important structure-function interactions required for making a fully functional and healthy oxidase enzyme.
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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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