Dr. Stefano Rivella

Kwame Ohene-Frempong Chair on Sickle Cell Anemia and Professor of Pediatrics

Dr. Stefano Rivella completed his studies at the University of Pavia, in Italy, and did his postdoctoral work at Memorial Sloan Kettering Cancer Center, in New York City. After his training, he opened his laboratory at Weill Cornell Medical College in New York City, where he was Director of the Stanley Jaffe Gene Therapy Lab. He is now a Professor of Pediatrics with tenure at the Children’s Hospital of Philadelphia and University of Pennsylvania and holds the Kwame Ohene-Frempong Chair on Sickle Cell Anemia.

Dr. Rivella is an expert in the pathophysiology of erythroid and iron disorders and in the generation of lentiviral vectors for the cure of hemoglobinopathies. Even though hemoglobinopathies such as beta-thalassemia and sickle cell anemia affect a very large number of children worldwide, these disorders are generally neglected. When possible, patients receive chronic blood transfusion and iron chelation for survival. The only definitive cure has been bone marrow transplant, but this approach is limited by finding a compatible bone marrow donor and potential complications associated with the transplant.

Dr. Rivella generated the first adult mouse model of ß-thalassemia major and contributed to the creation of the first lentiviral vector that corrected the hemoglobin synthesis in mice affected by beta-thalassemia. This led the way to the present gene therapy clinical trials. He is also generating new lentiviral vectors for the treatment of ß-thalassemia and sickle cell anemia. He showed correction of the hemoglobin synthesis defect in mice as well as in patient cells in vitro, as a preclinical test for potential gene therapy trials.

Dr. Rivella works on additional disorders such as anemia of inflammation, which is a form of anemia associated with many inflammatory disorders, and hemochromatosis, which is associated with abnormal iron absorption from the diet. Anemia of inflammation is a type of anemia that commonly occurs with chronic, or long term, illnesses or infections. Cancer and inflammatory disorders, in which abnormal activation of the immune system occurs, can also cause anemia of inflammation. Patients affected by hemochromatosis show an excessive amount of iron in their organs, leading to complications such as heart failure and cirrhosis.

Dr. Rivella also studies polycythemia vera, which is associated with an excessive production of red cells, and anemia of inflammation, which shows aberrant production of inflammatory cytokines, disturbed iron metabolism and reduced production of red cells.

Dr. Rivella characterized the role of seminal factors contributing to the morbidity and mortality in these disorders, such as hepcidin and ferroportin, which are the molecules that control iron absorption and organ iron distribution; the phosphokinase JAK2, which is one of the key molecules responsible for controlling red cell production; and macrophages, which play an important role in iron recycling, inflammation as well as erythroid proliferation and maturation. Dr. Rivella also investigated a number of the physiological mechanisms associated with the inappropriate amount of iron observed in the organs of patients with beta-thalassemia, and reduced red cell production in anemia of inflammation. Based on these studies, he contributed to the development of novel therapeutics, presently in clinical and preclinical trials.

Dr. Rivella was awarded Italy's Best University Thesis by the Italian Genetics Institute (AGI), the First Prize of the New Investigator Award (T. Ray Bradley Award) at the International Society of Experimental Hematology, the International Thalassemia Award in Innovative Medical Research sponsored by the Sultan bin Khalifa, and travel and fellowship awards from numerous international scientific societies.

He has received grants from the Cooley’s Anemia Foundation, European Community, Roche Foundation for Anemia Research (RoFAR)-Roche, Medgenics, Merganser Biotech, Ionis Pharmaceuticals, Bayer Healthcare and the National Institutes of Health (NIH) as a PI or Investigator. He also received the Daedalus Fund for his project “A universal approach for the cure of hemoglobinopathies”. The Daedalus Fund for Innovation is a program designed to advance early stage applied and translational research projects that have commercial potential.

Dr. Rivella has been providing expertise on mouse models important for red blood cell and macrophage biology as well as inflammation and iron metabolism to many US laboratories and pharmaceuticals interested in learning these subjects and/or testing new drugs. As such he has collaborated or provided consultation to many companies, biotechs and pharmaceuticals, such as Rana Therapeutics, Keryx Pharmaceuticals, Nektar Therapeutics, Novartis Pharmaceutical, Ionis Pharmaceutical, Merganser Biotech, Bayer Pharmaceutical, Megenics LLC, Biomarin Pharmaceutical, and Alexion Pharmaceutical. He is presently a member of the Scientific Advisory Board (SAB) of Merganser Biotech and Ionis Pharmaceutical.

Dr. Rivella has been a member of the Scientific Committee on Red Cell Biology and Chairman of the Scientific Committee on Iron and Heme of the American Society of Hematology (ASH) and Director of the International BioIron Society (IBIS). He is or has been a member of the American Society of Hematology (ASH), BioIron Society (IBIS), Società Italiana Talassemie ed Emoglobinopatie (SITE), European Medicines Agency (EMA), American Society of Gene & Cell Therapy (ASGCT), International Society of Experimental Hematology (ISEH), the New York Academy of Sciences (NYAS), American Society of Gene and Cell Therapy (ASGCT) and International Society for Stem Cell Research (ISSCR) and reviewer on several National Institutes of Health (NIH) study sessions.

He is one of the lead authors of the paper “The European Hematology Association Roadmap For European Hematology Research: A Consensus Document”. In the last decade, he has been teaching the subjects of normal and aberrant erythropoiesis, iron metabolism and gene therapy to PhD, MD and MD/PhD students (in US and foreign countries), explaining the use of transgenic animals, gene transfer vectors, the pathophysiology of many human diseases and the emerging of new therapies.