CORDIS Project
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This research investigates myelodysplastic syndromes, focusing on the impact of specific gene mutations on blood cell development. It aims to uncover mechanisms driving these malignancies and identify potential new treatments through advanced genetic analysis.
The myelodysplastic syndromes (MDS) are a heterogeneous group of malignancies of the haematopoietic stem cell (HSC) with a tendency for leukaemic transformation.
Despite some new therapies, the MDS are lethal to most sufferers and in need of new effective treatments.
Splicing factor gene mutations are the commonest class of somatic alterations in MDS and primarily affect the genes SF3B1, SRSF2, U2AF1 and ZRSR2.
The mutations are associated with altered mRNA splicing, but each affects different t…
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