Professor of Paediatric Haematology
Chair in Molecular Erythropoiesis
Pathophysiology of sickle cell disease
Sickle cell disease (SCD) is a genetic recessive inherited disease and one of the most common severe monogenic disorders worldwide. The disease is due to a single mutation in the β-globin chain (βS) of human hemoglobin (HbS), which results in HbS polymerization and red blood cell (RBC) sickling. The main clinical features of SCD are painful vaso-occlusive crises (VOC) and hemolytic anemia leading to acute and chronic organ damage. We are investigating two aspects of the pathophysiology of SCD, namely, erythrocyte cation transport and ineffective erythropoiesis, with the aim of developing novel therapeutics.
- Prof David Rees, Prof John Strouboulis
Genetics of red blood cell traits and sickle cell disease severity
Common genetic variants are shaping a large proportion of human genetic diversity. We seek to map genes and gene variants influencing the expression of fetal haemoglobin and other red-blood cell traits and to determine how they change the biological activities of erythrocytes. Clinical colleagues at the South London hospitals allied to King's College London, who are our close collaborators, look after a large number of patients with sickle cell disease. Together, we have identified red-blood cell influencing gene variants that also lead to milder forms of the disease and are therefore of therapeutic and diagnostic interest. This work is ongoing.
- Dr Stephan Menzel
Molecular erythropoiesis
We have a major research interest in GATA1, the master transcription factor of erythropoiesis. We are employing genomic, proteomic and functional assays in elucidating the molecular basis of GATA1 functions in physiological erythropoiesis and in ineffective erythropoiesis associated with hematological disease. We are also focusing on the GATA1short (GATA1s) isoform, as mutations giving rise to GATA1s expression at the expense of full length GATA1, are associated with defective erythropoiesis in hematological disorders such as Diamond-Blackfan anemia.
- Prof John Strouboulis
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Linzer, N., Trumbull, A., Nar, R., Gibbons, M. D., Yu, D. T., Strouboulis, J. & Bungert, J., 13 May 2021, In: Frontiers in Molecular Biosciences. 8, 681550. Research output: Contribution to journal › Review article › peer-review. DOIs: https://doi.org/10.3389/fmolb.2021.681550
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Saenz de Villaverde Cortabarria, A., Makhoul, L., Lombardi, G., Strouboulis, J., Oteng-Ntim, E. & Shangaris, P., 22 Jan 2021, In: Frontiers in Cell and Developmental Biology. 8, p. 1 13 p., 624477. Research output: Contribution to journal › Review article › peer-review. DOIs: https://doi.org/10.3389/fcell.2020.624477
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Mussolino, C. & Strouboulis, J., 2021, In: Frontiers in Genome Editing. 3, p. 618111 Research output: Contribution to journal › Review article › peer-review. DOIs: https://doi.org/10.3389/fgeed.2021.618111
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Strouboulis, J., 6 Aug 2020, In: Blood. 136, 6, p. 648-649 2 p. Research output: Contribution to journal › Review article › peer-review. DOIs: https://doi.org/10.1182/blood.2020006107
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Gutiérrez, L., Caballero, N., Fernández-Calleja, L., Karkoulia, E. & Strouboulis, J., 1 Jan 2020, In: IUBMB LIFE. 72, 1, p. 89-105 17 p. Research output: Contribution to journal › Review article › peer-review. DOIs: https://doi.org/10.1002/iub.2192
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Vatikioti, A., Karkoulia, E., Ioannou, M. & Strouboulis, J., 1 Jul 2019, In: Experimental Hematology. 75, p. 11-20 10 p. Research output: Contribution to journal › Review article › peer-review. DOIs: https://doi.org/10.1016/j.exphem.2019.05.004
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Barbarani, G., Fugazza, C., Strouboulis, J. & Ronchi, A. E., 12 Feb 2019, In: Frontiers in Physiology. 10, 91. Research output: Contribution to journal › Review article › peer-review. DOIs: https://doi.org/10.3389/fphys.2019.00091
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Blobel, G. A., Bodine, D., Brand, M., Crispino, J., de Bruijn, M. F. T. R., Nathan, D., Papayannopoulou, T., Porcher, C., Strouboulis, J., Zon, L., Higgs, D. R., Stamatoyannopoulos, G. & Engel, J. D., Oct 2015, In: Experimental Hematology. 43, 10, p. 821-37 17 p. Research output: Contribution to journal › Review article. DOIs: https://doi.org/10.1016/j.exphem.2015.06.008
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Anantharaman, A., Lin, I-J., Barrow, J., Liang, S. Y., Masannat, J., Strouboulis, J., Huang, S. & Bungert, J., Apr 2011, In: Molecular and Cellular Biology. 31, 7, p. 1332-43 12 p. Research output: Contribution to journal › Review article › peer-review. DOIs: https://doi.org/10.1128/MCB.01186-10
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Tsiftsoglou, A. S., Vizirianakis, I. S. & Strouboulis, J., Aug 2009, In: IUBMB LIFE. 61, 8, p. 800-30 31 p. Research output: Contribution to journal › Review article › peer-review. DOIs: https://doi.org/10.1002/iub.226
Marie-Sklodowska Curie Actions, European Training Network ARCH: Age-related changes in Hematopoiesis, 2019-2023
MRC Research Grant, Identification of novel mechanisms of fetal-hemoglobin induction by common genetic variation in patients with sickle cell disease, 2020-2023 (Co-PI with Dr Stephan Menzel)
Action Medical Research Project Grant, Investigating the role of transcription factor GATA1 in Diamond-Blackfan Anaemia pathogenesis and diagnosis, 2021-2023
Marie-Sklodowska Curie Actions Individual Fellowship-European, The molecular basis of ineffective erythropoiesis in Sickle Cell Disease, 2022-2024 (MSCA Fellow: Dr Sara El Hoss).