Maurizio Scarpa, MD, PhD
Director, Rare Diseases Program, IRCCS San Gerardo dei Tintori Research Hospital in Monza, Italy
Coordinator, European Reference Network for Rare Inherited Metabolic Diseases, MetabERN
Presentation Title:
Knowledge Generation in Rare Diseases: the Experience of the European Reference Networks
Maurizio Scarpa, MD, PhD, pediatrician, is the Director of the Rare Disease Program at the Regional IRCCS San Gerardo dei Tintori Research Hospital in Monza, Italy. He is Professor of Pediatrics at the Dept. for the Woman and Child Health, University of Padova, Italy, and the Co-Founder of the Brains For Brain Foundation, together with the late Prof. David Begley, King’s College London, London, UK. Prof. Scarpa has extensive expertise as a basic scientist in genetics and biotechnology, as well as a clinician in the diagnosis and treatment of paediatric rare disorders; neurometabolic diseases in particular. Together with dr. Christina Lampe he founded the Center for Rare Diseases at the Helios Dr. Horst Schmidt Kliniken in Wiesbaden, Germany. He is especially interested in developing innovative health approaches for the diagnosis and the treatment of metabolic inherited diseases; to this aim he is also collaborating with major biotech companies as an external independent expert. Prof. Scarpa is the Coordinator of the European Reference Network for Hereditary Metabolic Diseases, MetabERN, formed by 101 healthcare providers in 27 EU countries (www.metab.ern-net.eu ) to facilitate patient-centered holistic activities to implement knowledge, diagnosis, management and treatment for inherited metabolic diseases.