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Dr Bethan Psaila

Dr Bethan Psaila

‘Visualizing how gene activity is disrupted in megakaryocyte cells in Myelofibrosis, a severe bone marrow disorder’

Dr Bethan Psaila, University of Oxford

This study examines the role of megakaryocytes, blood cells found in the bone marrow, in a rare but fatal disease called Myelofibrosis. Myelofibrosis causes uncontrolled expansion of bone marrow cells and harmful scarring (“fibrosis”) destroying the bone marrow. Survival is <5 years and 20% of patients develop blood cancer. Current treatments help symptoms but do not reduce fibrosis or improve survival.

Myelofibrosis is triggered by a mutation in a gene called JAK2, leading to over-activation of bone marrow cells including megakaryocytes. As a result, other key genes are activated and megakaryocytes do not develop normally, massively overproducing factors that stimulate the fibrosis. In order to tackle this disease, we need to better understand how the JAK2 mutation disrupts the activity of other megakaryocyte genes.

Megakaryocytes are rare, fragile cells that are difficult to extract from the human body to study. This project will employ a new technique that allows us for the first time to see whether JAK2 and other key genes are switched on simultaneously in individual megakaryocytes in bone marrow samples. This will help identify the pathways in megakaryocytes causing fibrosis and aid in the design of new treatments to reduce the fibrosis and improve patients’ survival.

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