Research Projects

Myelodysplastic Syndromes (MDS) are clonal haematopoietic stem cell disorders affecting the elderly, characterized by ineffective and maturational arrest of haematopoiesis, peripheral blood cytopenias, and risk of leukemic transformation. Genetic factors, including chromosomal aberrations and gene mutations, are associated with MDS diagnosis and prognosis. Low-risk patients have a higher frequency of mutations than high-risk patients, but genomic changes present equal proportions. Gene mutations and dysplasia are predictors for MDS development, but their role is not fully understood. Somatic mutations have been identified in 70% of MDS patients, but a significant proportion of patients have no genomic lesions, leading to disease progression. Long non-coding RNAs (lncRNAs) play pivotal roles in hematopoiesis, but their transcriptional expression, clinical relevance, and function in MDS remain largely unknown. The present study of large series of lncRNAs using advanced technology at the transcriptome level will help understand the spectrum of lncRNA expressions in bone marrow and their association with overall survival in MDS. Further functional studies, such as cell survival and clonogenic assays, will help understand their role in clonal proliferations and differentiations.