Professor Eduardo Tizzano, MD. PhD. was born in La Plata (Argentina) and is specialist in Pediatrics and Medical Genetics. He is actually Director of the Department of Clinical and Molecular Genetics and Rare Diseases of the Hospital Valle Hebron, one of the largest University Hospitals in Spain and Europe
He graduated and doctorate from the University of La Plata (Argentina) and received medical training and medical practice in the two largest Pediatric Hospitals in South America: Ricardo Gutierrez and Juan P Garrahan (both located in Buenos Aires, Argentina). He was Postdoctoral fellow in the Hospital for Sick Children in Toronto, Canada (1990-1993) and Researcher and Consultant Faculty member in Pediatrics at the Hospital Sant Pau, Barcelona (1994-2013). His main areas of research include the characterization of SMA during human development, genotype-phenotype correlations, identification of modifier genes and validation of biological markers publishing extensively in these areas as well as in other genetic disorders. He is very active in academic and research activities at national and international levels collaborating with different neuromuscular and genetic centers and participates as PI and collaborator in clinical trials. Prof. Tizzano has close liaisons to regional, national and international patient support groups (ASEM, FUNDAME, FEDER, SMA Europe, AFM, UILDM, EURORDIS) as well as scientific groups and societies (CIBERER, AEGH, SEGCD,ESHG). He was recipient of several prizes in the field of rare diseases and neuromuscular disorders including the Queen Sophia Prize for his cumulative clinical, research and social work in SMA. He is also curator of the Spanish SMA Registry (FUNDAME), member of the TGODC (Treat-NMD), and coordinates SMA sample biobank and clinical research collaborations in Spain with the purpose to define therapeutic targets for the disease and support clinical trial readiness