Research

Research

The research of the Department of Biology is focused on selected non-malignant and malignant blood disorders, particularly congenital defects of erythropoiesis and myeloproliferative disorders. We work in a close cooperation with the Departments of Hemato-Oncology and Pediatrics, University Hospital and Faculty of Medicine and Dentistry Palacky University Olomouc. Our departments are part of the National Centre for Anemia which provides specialized diagnostic and medical care for adult and pediatric patients with rare congenital and acquired defects of hematopoiesis in the Czech Republic. We are also a member of the European Network for Rare and Congenital Anaemias (ENERCA).

The main aim of our research projects is to elucidate new molecular mechanisms responsible for erythroenzymopathies, hemoglobinopathies, thalassemias, inborn defects of iron metabolism and hereditary polycythemias. The characterization of molecular mechanisms involves – besides experiments on patients´ samples – also analyses of corresponding model systems, including mouse models (e.g. knock-in model of primary familial congenital polycythemia – PFCP, model of severe anemia due to deficiency of iron transporter DMT1), patient-derived induced pluripotent stem cells (iPSCs) and various overexpression and knock-down cell lines.

A specific part of our research focuses on inherited bone marrow failure syndromes, primarily Diamond-Blackfan anemia (DBA). We study molecular etiopathogenesis, including identification of new underlying molecular lesions. DBA cellular and mouse models are used to better characterize molecular pathophysiology of the disease and to test the potential of newly developed treatment strategies such as biological therapy.

We also study myeloproliferative neoplasms (MPNs), previously called myeloproliferative disorders (MPDs). MPNs are characterized by clonal proliferation of one or more of the myeloid lineages with increased risk of progression to leukemia. We analyze the genetic nature of biological processes involved in this malignant transformation and more recently also the predisposition to MPNs.