Head of the Unit of Medical Genetics, S.Gerardo Hospital, Monza. Full Professor of Genetics University of Milano-Bicocca; Director of the Centre for Rare Disorders (Disorders of Iron Metabolism, Hereditary anemia, Hereditary Metabolic disorders), San Gerardo Hospital, Monza, Italy and EDUCATION
SAN GERARDO HOSPITAL MONZA ITALY
1979: M.D. degree cum laude – University of Milano School of Medicine
1983: Specialization in Hematology – University of Milano.
2006: Specialization in Medical Genetics cum laude – University of Milano.
CLINICAL APPOINTMENTS
1983/1987: Resident in Internal Medicine, University of Milano, Policlinico Hospital, Milano1988: Consultant in Internal Medicine, San Gerardo Hospital, Monza.
1990: Chief of the Centre of Iron Metabolism, San Gerardo Hospital, Monza
2004: Director of the Consortium for Human Molecular Genetics, University of Milano-Bicocca, Monza, Italy
2011: Supervisor and coordinator for Human Rare Disorders, San Gerardo Hospital, Monza
2012: Assignment of Excellent specialization in Iron Metabolism and Hemochromatosis, San Gerardo Hospital, Monza
2014: Head of the Unit of Internal Medicine 2, ASST-Monza, S.Gerardo Hospital, Monza
2014: Director of the Centre for Adult Rare Disease (Disorders of Iron Metabolism; Hereditary anemias; Hereditary Metabolic Disorders) ASST-Monza, S.Gerardo Hospital, Monza.
2017: Head of the Unit of Medical Genetics, ASST-Monza, S.Gerardo Hospital, Monza
ACADEMIC APPOINTMENTS
1984/1988: Professor of Pathology, University of Milano, School of Hospital Nurses and Attendant.
1984/2006: Lecturer in Hematology, Gastroenterology, and in molecular biology for the Schools of Specialization of Gastroenterology, Internal Medicine, Cardiology and Endocrinology; University of Milano and Milano-Bicocca.
2006: Associate Professor of Internal Medicine, University of Milano-Bicocca.
2013: National (Minister of Instruction, University and Research) aptness for Full Professor in Internal Medicine and Clinical Genetics
2015-2017: Coordinator of the School of Specialization in Nutrition Sciences
2017: Full Professor of Genetics
PATENCY/INVENTION
2003: Methods and Probes for the genetic diagnosis of hemochromatosis
NATIONAL and INTERNATIONAL MEMBERSHIP
1996/2007: President of the Italian Association for the Study of Hemochromatosis and Iron Overload Disorders.
2008 to date: Honorary President of the Italian Association for the Study of Hemochromatosis and Iron Overload Disorders.
Member of the International Society of BIOIRON, Italian Society of Human Genetics (SIGE), Italian Society of Thalassemia and sickle cell disease (SITE). Peer reviewer for many medical journals in the haematological, hepatological, internal medicine, and genetic fields. Member of the Editorial Board of the World Journal of Gastroenterology
MAIN RESEARCH INTEREST
1. Physiopathology of iron metabolism: interactions between acquired and genetic factors in the development of iron deficiency and overload in hematological, hepatic and metabolic disorders.
2. Inherited and rare disorders: molecular genetics and pathogenesis of hemochromatosis and other hereditary and acquired iron disorders. Genotype/phenotype correlation in hemochromatosis. Inherited metabolic diseases.
MAJOR SCIENTIFIC ACHIEVEMENTS
Prevalence and distribution of iron overload in chronic viral hepatitis. Role of HFE mutations in the development of iron overload in chronic viral hepatitis and porphyria cutanea tarda. First evidence of the genetic heterogeneity of hemochromatosis. Identification of new mutations in several hereditary iron overload disorders. Hepcidin expression in hemochromatosis and other iron overload disorders. Iron and hypoxia link.
Number of publications on peer-reviewed journals: 134
Number citation: 5097
H-index: 39 (Web of Science) o 42 (Scopus)
Number of book chapters: 14