Colony whole genome sequencing of hematopoietic stem and progenitor cell-derived colonies from 2 dual SF3B1-mutant MDS-RS patients
This dataset consists of whole genome sequencing data from single cell-derived colonies obtained through colony-forming assays and culture of FACS-purified hematopoietic stem cells (HSC), multipotent progenitors (MPP), megakaryocyte-erythroid progenitors (MEP) and granulocyte-monocyte progenitors (GMP) from 2 MDS-RS patients, each with 2 competing SF3B1-mutant clones. The objective of this data collection was to assess the clonal hierarchy and history of the SF3B1 mutations. The dataset is approximately 1.2 GB and has filetypes zip, txt, phy and ojb.
Pedro Luis Moura, Yasuhito Nannya, Affaf Aliouat, Isabel Juliana Hofman, Teresa Mortera Blanco, Tetsuichi Yoshizato, Ryunosuke Saiki, Masahiro M Nakagawa, Maria Creignou, Ann-Charlotte Björklund, Gunilla Walldin, Indira Barbosa, Monika Jansson, Francesca Grasso, Edda M Elvarsdottir, Petter S Woll, Sten Eirik W Jacobsen, Seishi Ogawa, Eva Hellström-Lindberg, Competition of dual SF3B1mt clones in MDS-RS is associated with distinct RNA mis-splicing in hematopoietic stem cells, Blood Neoplasia, 2024,100011, ISSN 2950-3280, https://doi.org/10.1016/j.bneo.2024.100011.
Department of Medicine, Huddinge/ Center for Hematology and Regenerative Medicine (HERM)
Department of Medicine, Huddinge / Center for Hematology and Regenerative Medicine (HERM)
Disease mechanisms and targeted treatment in myelodysplastic syndromes
This translational research program aims at improving outcome for patients with myelodysplastic syndromes (MDS) by unravelling cellular and molecular mechanisms underlying disease features and response to treatment. Using a world-unique database of clinically annotated MDS patients who have undergone targeted DNA sequencing and RNA sequencing of CD34+ BM cells and has been complemented with comprehensive information regarding transfusion patterns and response to treatment we aim to develop novel predictive models for estimation of age-related survival loss, risk for progression, and optimal management and treatment. By using advanced culture models for human hemopoietic stem cell (HSC) biology and erythroid maturation in combination with single cell sequencing we will explore SF3B1 mutated MDS with ring sideroblasts with the aim to understand the clonal advantage of mutated over normal HSC and explore new molecular routes to prevent ineffective erythropoiesis and chronic transfusion dependency. Finally, we aim to implement and further improve recently developed methods for personalized minimal residual disease monitoring in a prospective clinical trial and thereby improve the cure rate after allogeneic stem cell transplantation in high-risk MDS. The long-term goal is to implement precision medicine in MDS in order to be able to predict and implement optimal management for each patient.
Bioinformatics and Computational Biology