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10.11.2008 |
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LOTTERY TO FUND RESEARCH INTO RARE DISEASE |
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9.11.2008 |
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Rare Disease UK |
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4.8.2008 |
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Exchange student researches AKU |
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24.7.2008 |
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Major AKU fundraising achievements by our top cyclist volunteers! |
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23.6.2008 |
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New Support section launched on AKU website |
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20.5.2008 |
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Update on Robert Gregory, Manager of the Alkaptonuria Society |
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1.5.2008 |
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AKU at Rheumatology Conference |
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20.3.2008 |
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Introducing the Alkaptonuria Information Centre |
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LOTTERY TO FUND RESEARCH INTO RARE DISEASE
The Big Lottery Fund has awarded almost £500,000 to the Alkaptonuria Society to work with scientists at the University of Liverpool to develop a treatment for the rare, genetic disease Alkaptonuria (AKU for short), and to educate doctors, policy makers and health professionals about the illness.
Patients with the disorder do not have enough of the enzyme homogentisic acid oxidase, which leads to acid build-up in the body. Some of this acid is eliminated in the urine, but the remainder is deposited in body tissue where it is toxic. The result is ochronosis; the formation of a black pigment which binds to bone, cartilage, and skin.
There is no known cure for the disease, which affects one in 200,000 people worldwide and can leave sufferers with crippling osteoarthritis in their spine and large joints, heart disease and in need of joint replacement surgery. The research at Liverpool will use models of ochronosis and will analyse tissue samples donated by AKU patients undergoing joint replacement surgery.
Head of Human Anatomy and Cell Biology and AKU Society Advisor Professor Jim Gallagher said: 'The black pigment that leaks into the bloodstream and attaches itself to joint cartilage is the main cause of illness in AKU. What is interesting is that the pigment only attaches itself to certain areas of cartilage, while other sections remain pigment-free. If we can find out why it does this we could prevent the pigment from binding altogether. This would dramatically reduce the risk of arthritis in the joints of AKU sufferers. Only by understanding the basic mechanisms of the development of ochronosis will we be able to develop strategies to prevent it.'
Scientists will use their ochronosis models to provide a fundamental understanding of the development of the condition and to develop potential therapies. The AKU Society will then use this information to educate doctors and health professionals about how to treat people with the disease. It will also approach policy-makers to encourage them to take more notice of AKU and other rare diseases.
AKU Society Chairman Dr Nicolas Sireau said: 'This award from the Big Lottery Fund is ground-breaking as it will allow us to research a treatment for a rare disease that could lead to major breakthroughs for other illnesses and raise awareness about the condition. Once again, the Big Lottery Fund has shown vision and commitment in its approach to its grant-making.'
The AKU Society is a patient-led charity, and patients will be closely involved in this research project, including on the steering group.
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