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Challenges in the management of HFE-related hemochromatosis

Challenges in the management of HFE-related hemochromatosis

19/03/2020 17:00

Speakers: Graça Porto

Target: Health professionals
Subnetworks: Hemochromatosis and other iron disorders
Disease Groups: HFE related hereditary hemochromatosis (Symptomatic form of hemochromatosis type 1 - OMIM 235201)

Graça Porto graduated in Medicine in 1979 at the University of Porto and specialized in Hematology/Transfusion Medicine at Santo António Hospital, Porto, where she holds a permanent clinical position, presently as Chief Consultant.  Her clinical work was mostly devoted to the study of disorders of iron metabolism, running the Hospital Outpatient Clinic for Hemochromatosis. In 1994 she earned her PhD at the University of Porto and joined the Abel Salazar Institute for Biomedical Sciences (ICBAS) faculty as invited full Professor. In 2003 she joined, as clinical researcher, the Institute for Molecular and Cellular Biology (IBMC), Porto, and there created in 2011 a translational research group devoted to the study of iron biology and its implications in iron related disorders. As a recognised clinical expert in the field she published, in 2016, the EMQN (European Molecular Quality Network) best practice guidelines for the molecular genetic diagnosis of HH, and in 2018 was appointed as a coordinator for the Disorders of Iron Metabolism in the EuroBloodNet, the European Reference Network for rare haematological diseases.