Regional Coordinating Centre for Rare Diseases, Azienda Sanitaria Universitaria, Hospital "S.Maria della Misericordia, Udine, Italy
Giovanni Ciana is an Italian Medical Doctor specialized in Pediatrics. He has been working at the Regional Coordinator Centre for Rare Diseases, Director Dr Bruno Bembi, Hospital “S. Maria Della Misericordia”, Udine, Italy, since November 2008. From 1992 to 2008 he has been Assistant Pediatrician at the Department of Neonatology of IRCCS Children Hospital “Burlo Garofolo”, Trieste, Italy. Since 1994 he has turned his interests to metabolic diseases; in November of the same year, he took part in a one-month internship at the Centre of Neurometabolic Diseases of the National Institute of Health, Bethesda, USA.
Since then he has specialized in and dealt with lysosomal storage diseases (i.e. Gaucher disease, Glycogenosis type II, Niemann Pick Disease), studied at that time at the Centre of Congenital Metabolic Diseases and Gaucher Disease of the Children’s Hospital “Burlo Garofolo”, directed by Dr Bruno Bembi. From October 2004 to November 2008, in the same Hospital, he had the task appointed “Diagnosis and follow up of newborns with rare diseases”. In 2000 he became a member of SIP (Società Italiana di Pediatria) and SIMMESN (Società Italiana Malattie Metaboliche Ereditarie e Screening Neonatali). He attended many National and International congresses and has been a speaker in international meetings concerning metabolic disease including the VIII ICEM, Cambridge, UK, 2000. He attended almost all the European Workshop on Gaucher Disease that is held every 2 years. He has been involved as Co-investigator in several National and International clinical trials on Gaucher Diseases and Niemann Pick type B disease. He has been trained in GCP during several Investigator’s Meeting for clinical trials. He cooperated in writing chapters of books concerning General Pediatrics, Infantile Neuropsychiatry and Lysosomal disorders. In particular, he co-wrote with Dr.Bruno Bembi the chapter “Enzyme replacement therapy in Glycogenosis type 2 disease”, in the book “Lysosomal Storage Diseases –early diagnosis and new treatments”, Editions John Libbey Eurotext, 2010. He published 41 peer-reviewed papers in academic journals.