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Our lab investigates the changes in the bone marrow cells that lead to the development of a group of rare blood disorders called myeloproliferative neoplasms. These disorders are categorised into three main types: myelofibrosis (the most severe); essential thrombocythaemia (ET); and polycythaemia vera (PV); and result in abnormal levels of myeloid blood cells, namely red blood cells, white blood cells or platelets. All patients with MPNs are at higher risk of developing leukaemia, especially in the case of myelofibrosis when this develops in >10% patients. Secondary acute myeloid leukaemia is a very severe condition with poor response to treatment.

We discovered that one of the causes of MPNs is a change in a key part of a pathway that transmits chemical signals from outside the cell to the cell nucleus. This signalling pathway allows the cell to alter the pattern of gene expression in response to these external signals. We are now working to understand more about the mechanism of how this altered signalling pathway promotes MPN development, in particular looking at how this affects the packaging of DNA inside the cell nucleus to regulate gene expression.