Leukaemia and L...
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Oxford scientists investigate the genetics of blood cancer

Leukaemia and L...
Posted by
22 Mar 2012

Scientists from the University of Oxford are to examine how a genetic mutation within blood cells can lead to cancer, offering hope that new drugs could be designed to target the disease. 

The researchers, led by Dr Jacqueline Boultwood, have been awarded £170,000 for the three-year study by the blood cancer charity Leukaemia & Lymphoma Research.

The team have identified a key gene known as SF3B1, which if mutated in blood cells, can cause a group of blood cancers called myelodysplastic syndromes (MDS). Patients with MDS often have anaemia, are vulnerable to infection and can go on to develop leukaemia.

Mutations of the SF3B1 gene occur in around 30 percent of MDS patients and it is particularly common in specific subtypes of this disease.  By studying the precise role of this gene and how damage to it causes cancer, Dr Boultwood’s team aim to be able to design new drugs to target MDS.

Dr Boultwood said: “MDS diagnosis and accurate classification remain challenging. SF3B1 mutations can be detected in blood samples taken from patients and thus it may be possible to give a definitive diagnosis from a single blood sample. Our identification of frequent mutation of SF3B1 in MDS is critical to developing our understanding of this blood cancer. Testing for this genetic mutation may be a valuable tool for doctors in guiding treatment.”

Dr David Grant, Scientific Director at Leukaemia & Lymphoma Research, said: “Greater understanding of the genetics behind MDS will enable doctors to tailor treatment specifically for individual patients. Dr Boultwood and her team will investigate some important questions around MDS which will hopefully lead to better treatments that are more effective at beating the disease.”

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