IntroductionCLINICAL AND EXPERIMENTAL HEMATOLOGY AND IMMUNOPATHOLOGY (CEHIP)* research group is a multidisciplinary research group dedicated to clinical investigation and educational programs in hematopathology and immunopathology. It integrates health professionals from clinical and laboratory areas, offering a unique opportunity for a successful translation. The principal aim is to combine clinical studies with experimental research, to develop diagnostic and treatment strategies for patients with hematological and immunological disorders. The research programs are devoted to the study of the blood cells and hematopoietic and lymphopoietic organs, as well as the immune system, from a normal and a pathological perspective. * Formerly “BLOOD, LYMPHOPOIETIC AND HEMATOPOIETIC DISORDERS (BLHD)” (2006-2013) RESEARCH AREAS The research programs rely mainly in the domains of the hematopathology and immunopathology, covering different areas.
- Hematological malignancies, focusing on lymphoproliferative diseases, mainly those arising from T cells and NK cells, as well as on mastocytosis.
- Hemostasis, concentrating on hereditary hemorrhagic diseases due to coagulation factors defects (e.g. hemophilia) and congenital platelet disorders (e.g. defects of platelet glycoproteins, storage pool diseases), as well as on the role of endothelial cells in thrombosis.
- Bone marrow failure syndromes, converging on Fanconi Anemia and Paroxysmal Nocturnal Hemoglobinuria.
- Red blood cell disorders, mainly congenital anemia due to membrane red blood cell defects, such as Hereditary Spherocytosis.
- Immunodeficiencies, both primary and secondary.
- Autoimmune diseases.
- Infectious diseases.
FACILITIES Clinical areas (in-patients; out-patients)
- Hematology consultation (leukemia & lymphoma; bone marrow failure syndromes; red blood cell disorders).
- Multidisciplinary consultation for cutaneous lymphomas and mastocytosis.
- Hemostasis consultation (hemophilia, von Willebrand disease & other congenital hemorrhagic disorders; thrombophilia; platelet disorders).
- Immunodeficiency, autoimmune diseases, infectious diseases and allergy.
Laboratory areasLaboratory areas include, among others: cytology and cytochemistry; flow cytometry and cell immunophenotyping; genetics, hemostasis and immunology. These laboratories have all the equipment needed for contemporary cellular, biochemical and genetic research in the fields of hematology and immunopathology. Facilities comprise automatic cell counters, optical, fluorescence and inverted lens microscopes, benchtop flow cytometers, magnetic cell sorters, laminar flow cabinets, 37°C CO2 humidified incubators, equipment for DNA extraction, PCR and Real time PCR assays and DNA sequencing, radioimmunoassay (RIA) and enzymatic immunoassay (ELISA) and equipment for platelet function and platelet aggregation assays. In addition, there is all the general laboratory equipment such as benchtop centrifuges and microcentrifuges, refrigerators, -70°C and -20°C freezers, water baths, spectrophotometers, ice makers, pH readers, automatic pipettes and dispensers, heater and stirring heater plates and analytical balances.
AimsThe specific research goals are:
- To investigate the molecular pathways involved in the genesis of the lymphoid malignancies originating from T cells and NK cells, to characterize their clinical and biological spectrum, and understand the associated conditions (e.g. cytopenias and autoimmune diseases in patients with large granular lymphocyte leukemia, pruritus in patients with cutaneous T cell lymphomas). To improve the laboratorial procedures for the diagnosis, monitoring and therapeutic management of these conditions.
- To comprehend the diversity of clinical manifestations observed in patients with mastocytosis (e.g. neuropsychiatric disorders, bone disease, etc.), and to investigate the role of the mast cell mediators.
- To improve the laboratorial tests for the diagnosis of systemic mastocytosis, monitoring and therapeutic management of patients.
- To characterize the hematological and genetic abnormalities observed in patients with bone marrow failure syndromes, namely Paroxysmal Nocturnal Hemoglobinuria and Fanconi Anemia; and to understand their predisposition to develop myeloid malignancies (e.g. myelodysplastic syndromes, acute myeloblastic leukemia).
- To develop, improve and implement in the routine clinical practice, biochemical, molecular genetics and flow-cytometry based tests for the diagnosis of the hereditary blood coagulation factor defects and platelet disorders; and to clarify the molecular mechanisms involved.
- To study the clinical spectrum and molecular mechanisms involved in immunodeficiencies and autoimmune diseases.
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