Rossella Parini

Dr. Rossella Parini is 1) Consultant of the Rare Metabolic Diseases Unit "Foundation Mariani", in the Department of Paediatrics at the San Gerardo Hospital of the University of Milan-Bicocca in Monza, Italy and 2) Consultant of the San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), IRCCS San Raffaele Scientific Institute, Milan, Italy. In 1977, she obtained the degree in Medicine and Surgery ‘cum laude’ at the University of Milan, Italy. She specialised in Paediatrics, Neonatology and in Genetics at the University of Milan. With regard to neonatology, during her residency in Paediatrics, from 1978 to1981, she obtained a research fellowship to study the pharmacokinetics of methylxantines and aminoglycosides in the newborn (it was possible because at those times, there was no salary for the residents in Paediatrics). Thereafter, she received post-graduate trainings in the Neonatal Intensive Care Unit of the Cornell University in New York, NY, USA. Coming back to Italy she had a permanent hospital position in the Paediatric Clinic of the University of Milan, and in 1983 she received post-graduate training in Clinique de Génétique Médicale, Hôpital Necker-Enfants Malades in Paris, France. Since 1983 her main interest became metabolic disorders and she started gathering and following new patients with rare metabolic diseases at the Paediatric Clinic of the University of Milan, located in the Hospital ‘Istituti Clinici di Perfezionamento’ where the first laboratory in Italy for amino acids and organic acids had been developed in the seventies by Prof. Dr. Lucia Piceni Sereni. In 2003 she moved to the Paediatric Department in San Gerardo Hospital, University Milan-Bicocca, where a new Unit for metabolic disorders was established with the financial support of the Mariani Foundation. At present Dr Parini and her collaborators, follow more than 300 patients with rare metabolic diseases like urea cycle, organic acidosis, beta-oxidation, glycogen storage diseases and lysosomal storage disorders, mainly mucopolysaccharidoses. Her Center at San Gerardo Hospital participated in the phase III clinical trial for enzymatic replacement therapy in mucopolysaccharidosis IV sponsored by Biomarin. The Center has participated in two recently concluded studies sponsored by AIFA (Agenzia Italiana Farmaco) , one was on “Evaluation of enzyme replacement therapy with Naglazyme on joint disease in MPS VI patients” with Catania (prof Sorge) as leader group, the other one was on “Evaluation of efficacy of enzymatic replacement therapy in pediatric patients affected by mucopolysaccharidosis type II (Hunter syndrome)”, with Padova as leader group. Dr. Parini is a member of several Italian scientific societies, including those of Paediatrics (SIP), Clinical Genetics (SIMGEPED), Human Genetics (SIGU) and Hereditary Metabolic Diseases (SIMMESN). She is also a member of the European Society for Paediatric Research (ESPR), of the Society for the Study of Inborn Errors of Metabolism (SSIEM), and of the American Society of Human Genetics (ASHG). As board member, she is active in patients’ associations and disease registries; she is e.g. member of the Italian Mucopolysaccharidosis (AIMPS) Society, and the Fabry Outcome Survey (FOS), Hunter Outcome Survey (HOS) and MPS I European Boards. Her publication list contains many articles, of which the vast majority has been published in English-language, peer-reviewed journals. She is (co-)author of about 40 publications in the last 4 years. She has authored several Italian book chapters and reviews on metabolic disorders.