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Dr. Paula Faustino


Instituto Nacional de Saúde Dr. Ricardo Jorge, Departamento de Genética
Avenida Padre Cruz 1649-016 Lisboa • Portugal

Molecular biology of hemoglobin disorders - hemoglobinopathies, including sickle cell disease. Studies comprise expression studies of novel hemoglobin mutations, investigation of genetic modifiers of clinical manifestations as well as functional genomica. Concerning iron metabolism related disorders, the researcher is interesting in studying the different types of hereditary hemochromatosis. Studies comprise the post-transcriptional mechanisms of HFE gene expression regulation as well as the functional link between erythropoiesis and iron metabolism.

Scientific publications

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Co-funded by the Health Programme of the European Union.