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Salisbury scientists in key study that identifies gene linked to blood disorders 

Scientists at the Wessex Regional Genetics Laboratory at Salisbury District Hospital have identified a key gene, which, if mutated, can cause serious blood disorders.

The findings shed light on how these disorders develop and could lead to the design of new drugs for patients in the future that specifically target the genetic abnormality.

Using new genome scanning technology, the scientists, who work in conjunction with the University of Southampton, examined the DNA of people with two groups of blood disorders - myeloproliferative neoplasms (MPN) and myelodysplastic syndromes (MDS). They found that up to 12% of patients with the different blood disorders had tiny mutations in one important gene, called ‘EZH2’.

The particular region of DNA on which it was found (chromosome 7) was known to be prone to abnormalities in blood disorders, but this is the first time that a clear ‘target gene’ in this important region has been identified. The presence of mutations in the EZH2 gene also appeared to be a sign of poor prognosis for patients with these disorders. 

The study, which was funded by the blood cancer charity Leukaemia & Lymphoma Research, is published in the journal Nature Genetics on 4 July.

Professor Nick Cross, Director of the Wessex Regional Genetics Laboratory said: "The identification of this key genetic mutation and its connection with a significant percentage of cases provides a new and unexpected insight into the development of blood disorders. More work needs to be done, but it is certainly possible that in the future this information could be used to guide treatments and design new drugs to correct genetic mutations."

Dr David Grant, Scientific Director at Leukaemia & Lymphoma Research, said: "This is an exciting piece of research. Unfortunately there are still limited treatment options available for blood disorders, so identifying the key genes that play a role in their development is an important step forward in our understanding."



About Leukaemia & Lymphoma Research

Leukaemia & Lymphoma Research is the only UK charity solely dedicated to research into blood cancers, including leukaemia, lymphoma and myeloma. These cancers are diagnosed in around 28,500 children, teenagers and adults in the UK every year. Leukaemia & Lymphoma Research was previously known as Leukaemia Research and has changed its name to raise awareness of its longstanding commitment to research into all the blood cancers - not just leukaemia.

Leukaemia & Lymphoma Research celebrates its 50th anniversary in 2010. Its expertise and focus enables it to invest in only the best UK research into better diagnosis, treatments and cures. As it receives no government funding and relies entirely on voluntary support, it needs to raise £120 million in the next five years to continue this life-saving research. Further information, including patient information booklets, is available from or on 020 7405 0101.

For further information please contact:
Patrick Butler
Public Relations Manager
Salisbury NHS Foundation Trust.
Tel: 01722 42517

For further information about Leukaemia & Lymphoma Research please contact:
Henry Winter
Press Officer
Leukaemia & Lymphoma Research
Tel: 020 7269 9019





Page Last Updated: 08/05/2014 10:07 
Printed from Salisbury NHS Foundation Website