Maria Domenica Cappellini

Maria Domenica Cappellini is Professor of Internal Medicine at the University of Milan and Chief of the Rare Diseases Centre at the Fondazione IRCCS Policlinico Hospital, Milan until 31 October 2019.
She qualified as an MD in 1974 at the University of Milan, Italy and has been active in the fields of thalassaemia, haemoglobinopathies, the heme biosynthetic pathway for over 40 years. and lysosomal diseases (mainly Gaucher and Fabry) for over 20 years. She has focused on the phenotypic expression of thalassaemia intermedia and identified the mechanisms underlying the thrombotic risks associated with the disease. She is involved in clinical trials of new iron chelators and erythroid stimulators. She has focused recent studies on iron dysregulation in Gaucher disease. Dr. Cappellini has published a large number of peer-reviewed original articles in these areas and is a regular contributor and invited speaker at national and international meetings. She contributed to the characterization of the molecular defects of Thalassaemia globin genes in Italy; of note, she defined the genotypes of Italian patients with thalassaemia intermedia that became nationally important for prenatal diagnosis. In addition, she developed an erythroid liquid culture system from peripheral erythroid progenitors in order to study molecules with the potential capability of reversing hemoglobin switching, or inducing fetal hemoglobin production in view of therapeutic application.
Dr. Cappellini is a member of a number of societies, including the European Hematology Association (EHA), the American Society of Hematology (ASH), the Italian Society of Hematology (SIE) and the Italian Society of Internal Medicine (SIMI).
She is scientific advisor to the Thalassaemia International Federation (TIF)
and contributes to establish guidelines for the clinical management of thalassaemia.
Professor Cappellini is Past-President of the European Federation of Internal Medicine (EFIM).