Institute for Child and Maternal Health, Department of Paediatric Stomatology, IRCCS Burlo Garofolo– IRCCS, Trieste, Italy
He is currently working as Consultant Dental Surgeon and Clinical Research Fellow (Dental Anomalies and Rare Disorders) at IRCCS Burlo Garofolo, Institute for Child and Maternal Health, Trieste, Italy (since 2008). His clinical focus is on Ectodermal Dysplasias (EDs) and has worked extensively in the treatment and management of these groups of inherited disorders. He has focused since 5 years his attention on natural history and in oro-facial features of the most common between the 7000 rare diseases to date classified. He received his degree in Dentistry with the highest mark in 2001 at the University of Brescia (Italy). He fulfilled a Master and a Specialization in Pediatric Dentistry and Special Dental Care in 2007 at the Catholic University of Leuven (Belgium). He finished the third year of his PhD in Molecular Genetics and Biotechnology –about to defend the Thesis- focusing on clinical studies, research on the molecular basis of tooth agenesis and syndromes aspects of rare diseases with dental anomalies. He has been publishing articles in several International Journals (approximately 42 articles to date) as well conducing the activity of reviewer for some of the most prestigious Scientific Journals including the International Journal of Pediatric Otorhinolaryngology, the American Journal of Medical Genetics, BMJ Case Reports, Ophthalmic Genetics, the Annals of Oral and Maxillofacial Surgery, the Journal of International Dental and Medical Research, the Journal of the European Academy of Dermatology and Venereology, the Journal of Clinical Genetics, Minerva Pediatrica, International Dental Research, Ophtalmic Genetics, the American Journal of Hematology, Oral Health and Dental Managment, Journal of Dental and as well Referee an invited reviewer for the following journals: PLOS ONE, BMC Research Notes, Gerodontology, Journal of Craniofacial Diseases, BMJ Case Reports, International Journal of Pediatric Othrynolaringology, BMC Oral Health, Dentistry, Oral Health and Dental Managment, European Journal of Pediatric Dentistry, European Journal of General Dentistry, Gerodontology, IJDMR, European Journal of Prosthodontics.
Lecture title: Oral manifestation in Rare Diseases, from diagnosis to treatment plan
In the last decades tha attention of several disciplines of medicine have been focused on rare diseases; rare diseases are estimated to be 6000, and as time goes by the number increases; the 85% of rare diseases are of genetic offspring, hence the appropriate and most indìcated place to make a correct diagnosis is a Paediatric Hospital since the first signs and symptoms are detectable after birth, in perinatal period, in infancy through adolescence; in all of them a dentist plays a role; in some of them the dentist plays a key role; knowledge about rare diseases is considered a neglected field (i.e Ectodermal Dysplasias syndrome, Osteogenesis Imperfecta) hence the focus of the main dental featureas in rare diseases enlight the scientific community rising the most striking oro-dental features of the rare diseases to date observed and described allowing an establishment of guidelines for treatment plan strategies