Professor, Regional Coordinating Center for Rare Diseases, Udine University Hospital (IT)

Maurizio Scarpa, MD PhD, paediatrician, is the Director of the Regional Coordinating Centre for Rare Diseases at the University Hospital of Udine, Italy. He is a Professor of Paediatrics 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 Prof. David Begley, Kings College of London, London, UK. Prof. Scarpa earned his medical degree, doctorate and residency in Paediatrics at the University of Padova in Italy. He completed a postdoctoral fellowship in molecular biology and gene expression at the European Molecular Biology Laboratory (EMBL) in Heidelberg, Germany, and in genetics and gene therapy at the Howard Hughes Medical Institute, Institute for Molecular Genetics, at Baylor College of Medicine in Houston, Texas, USA. He has been the Director of the PhD Course on Genetics and Biochemistry at the Dept. for the Woman and Child Health at the University of Padova, Italy. He served as Vice-Dean for the International Affairs at the University of Padova and Director of the International Affairs Office at the Faculty of Medicine of the University of Padova, Italy. 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 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´s teaching and educational interests aim, among other things, is for the development of an MD/PhD European Programme on Inherited Metabolic Diseases. Prof. Scarpa is the Coordinator of the European Reference Network for Hereditary Metabolic Diseases, MetabERN, formed by 103 healthcare providers in 27 EU countries and treating about 60,000 patients with metabolic diseases and he is the Past-Chair of the ERN Coordinators Working Group. Prof. Scarpa is an author of approximately 170 international peer-reviewed clinical and scientific papers, book chapters and reviews on basic and applied research on metabolic diseases.


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