ERC Consolidator Grant · 2018
Pathogenesis and treatment of splicing factor mutant myelodysplastic syndromes
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 transcripts and it is unclear how they drive MDS. It has been hypothesised that different mutations share pathogenetic mechanisms, distinct from their effects on alternative splicing. Recently,…
From the public funding record at EU CORDIS. Describes the funded project, not the reviews below.