What causes MDS to develop into AML, and what can we do to stop it?

Lead researcher - Professor Jacqueline Boultwood, University of Oxford
An investigation of the molecular pathogenesis and pathophysiology of MDS, including the 5q- syndrome: identification of new therapeutic targets
Amount awarded: £1,835,316
Award start date: 01 Apr 2014
Award duration: 5 years (64 months)

The myelodysplastic syndromes (MDS) are a group of blood cancers, which have a high chance of developing into acute myeloid leukaemia. There are very few effective treatments for people with an MDS, and the outlook for people with an advanced MDS is poor.

Research has revealed that many genetic changes (mutations) in MDS happen in a group of genes that make proteins which form a structure called a ‘spliceosome’. This structure helps the cell make proteins from genes. Professor Boultwood and her team at the University of Oxford want to understand how the changes to the spliceosome genes cause MDS, and hope this will help them discover new drugs for this group of diseases.

The researchers have also started experimenting with already available drugs called ‘spliceosome inhibitors’, which could help people whose MDS has spliceosome gene changes. They are also using a powerful technique called next-generation sequencing, to see what gene changes cause people with this type of MDS go on to develop acute myeloid leukaemia.

These studies will give Professor Boultwood and her team a better understanding of the causes of MDS and how it progresses, which could reveal new treatment targets for the disease.