Chronic granulomatous disorder (CGD) is a rare and life-threatening genetic disorder.
It leaves children unable to fight bacterial and fungal infections.
The Chronic Granulomatous Disorder Research Trust receives funding from from Jeans for Genes to provide support services and to invest in research to better understand the condition and to develop treatments.
Gene therapy
A bone marrow transplant can be an effective treatment for some people with CGD. But it's not suitable for everyone.
The CGD Research Trust have so far invested more than £1.7m in research into an alternative treatment, gene therapy. It has potential for children and adults with the most common type of CGD.
Collboration between scientists at the UCL Institute of Child Health in London and the Georg-Speyer-Haus Institute in Frankfurt, Germany has already resulted in clinical trials that have helped save and extend the life of a number of people with CGD.
Work is now focused on changing the design of the 'delivery vehicles' known as vectors that transfer a fully functional copy of the defective gene into patients’ cells.
Worldwide research
Funding from Jeans for Genes Day is helping the CGD Research Trust to contribute to a number of projects around the world.
- University College London is exploring the link between inflammatory disease in CGD and that of Crohn’s disease
- Work is ongoing at Roswell Park Cancer Institute, Buffalo, USA to develop a vaccine to help people with CGD fight off serious infections caused by fungi - work that has wide reaching implications for many people who have faulty immune systems
- Researchers at the University of Perugia, Italy are looking into the role the enzyme affected in CGD plays in inflammation. They want to understand how it's involved in the formation and build up of infected tissue known as granulomas that can cause painful blockages in the stomach and urinary tract. They can then test new ways to deal with the inflammation
- Case Western Reserve School of Medicine in Cleveland, USA is investigating new ways to increase the effectiveness of antibiotics in treating painful abscesses
Photos: © James Robertson