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Programmazione Conference 12.35-13.00 Discussion Erica Daina, IRCCS - Mario Negri Institute for Pharmacological 13.00-13.45 Lunch Research Clinical Research Center for Rare Diseases “Aldo e Cele UNDIAGNOSED RARE DISEASES: Daccò”, Ranica, Italy A JOINT ITALY-USA PROJECT SESSION 2:Further Italian experiences on Undiagnosed Bruno Dallapiccola, Bambino Gesù Children's Hospital, IRCCS, ISTITUTO SUPERIORE DI SANITA’ Diseases Rome, Italy. National Centre for Rare Diseases Chair: Giuseppe Remuzzi and Domenica Taruscio Maria Chiara de Stefano, National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy Maya Di Rocco, Clinical group, Scientific Committee for 13.45-14.05 Undiagnosed Diseases: the experience of the Regional Coordination of rare diseases A.Li.Sa. – Azienda 8.30-9.00 Registration Ospedale Pediatrico Bambino Gesù Sanitaria Liguria Region, Genoa, Italy 9.00-9.10 Welcome address M. Tartaglia, B. Dallapiccola Alessandra Ferlini, University-Hospital of Ferrara, Italy W. Ricciardi 14.05-14.25 Telethon Network for Undiagnosed Diseases Giovanna Floridia, Bioethics Unit, Istituto Superiore di Sanità, SESSION 1: The International and the ISS Undiagnosed V. Nigro, G. Casari Rome, Italy Diseases Network - UDN- 14.25-16.00 Round Table “From National Network for Lucia Guidotti, Direzione Generale della Programmazione Chair: Giuseppe Novelli Rare diseases, to European Reference Sanitaria- Ministero della Salute Networks and International initiatives: Paraskevas Iatropoulos, IRCCS - Mario Negri Institute for 9.10-9.40 The USA Undiagnosed Diseases Pharmacological Research Clinical Research Center for Rare strengths, weaknesses and opportunities” Network (UDN) Diseases “Aldo e Cele Daccò”, Ranica, Italy D. Roccatello, E. Daina, B. Bembi, M. Di D. Adams Alessia Massaccesi, Comitato " I Malati Invisibili Onlus", Genoa, Rocco, D. Coviello, D. Taruscio, L. 9.40-9.55 The Wilhem Foundation Italy Guidotti, O. Horst Riess, M. Scarpa, M. Elisa Menegatti, Center of Research of Immunopathology and H. Cederroth Mosca, L. Sangiorgi, C. Ales Rare Diseases - Coordinating Center of the Network for Rare 9.55-10.15 Undiagnosed Diseases: International 16.00-16.20 The experiences of Patient Associations Diseases of Piedmont and Aosta Valley, University of Turin, Network and the ISS Italy-USA Project A. Massaccesi, S. Collatina Turin, Italy D. Taruscio 16.20-17.00 General discussion Marta Mosca, ERN ReCONNECT, University-Hospital Pisana, Pisa, Italy 10.15-10.30 Data sharing in ISS UDN Network: using 17.00 End of Conference PhenoTips and PhenomeCentral tools Marcella Neri, University-Hospital of Ferrara, Italy M. C. De Stefano, M. Salvatore, F. Censi Vincenzo Nigro, Telethon Institute of Genetics and Medicine G.Floridia (TIGEM), Pozzuoli, Italy Speakers and Chairs Giuseppe Novelli, Tor Vergata University, Rome, Italy 10.30-10.45 ISS UDN: next steps David Adams, NIH Undiagnosed Diseases Program, National Giuseppe Remuzzi, IRCCS - Mario Negri Institute for M. Salvatore Human Genome Research Institute, National Institutes of Pharmacological Research Clinical Research Center for Rare 10.45-11.00 Discussion Health, United States Diseases “Aldo e Cele Daccò”, Ranica, Italy 11.00-11.20 Coffe Break Claudio Ales, European Patient Advocay Group representative, Walter Ricciardi, President of Istituto Superiore di Sanità, Results of the Centres involved in the USA-Italy Palermo, Italy Rome, Italy Olaf Horst Riess, Institute of Human Genetics and Applied Project: Simone Baldovino, Center of Research of Immunopathology and Rare Diseases - Coordinating Center of the Network for Genomics, University of Tübingen, Germany 11.20-11.35 Tor Vergata University, L’Aquila University Rare Diseases of Piedmont and Aosta Valley, University of Turin, Dario Roccatello, Center of Research of Immunopathology and F. Brancati, G. Novelli Turin, Italy Rare Diseases - Coordinating Center of the Network for Rare 11.35-11.50 Ferrara University Bruno Bembi, Regional Coordinator Center for Rare Diseases, Diseases of Piedmont and Aosta Valley University of Turin, Turin, A. Ferlini, M. Neri Academic Hospital of Udine, Udine, Italy. Italy 11.50-12.05 IRCCS - Mario Negri Institute for Francesco Brancati, L’Aquila University, L’Aquila, Italy Marco Salvatore, National Centre for Rare Diseases, Istituto Pharmacological Research Clinical Research Deborah Capanna, Comitato “I Malati Invisibili”, Genoa, Italy Superiore di Sanità, Rome, Italy Giorgio Casari, Telethon Institute of Genetics and Medicine Luca Sangiorgi, ERN BOND, Istituto Ortopedico Rizzoli, Center for Rare Diseases “Aldo e Cele (TIGEM), Pozzuoli, Italy Bologna, Italy Daccò”, Ranica Helene Cederroth, Wilhelm Foundation, Sweden Maurizio Scarpa, Coordinator of ERN Coordinators, Helios Dr E. Daina, P. Iatropoulos, G. Remuzzi Federica Censi, National Centre for Rare Diseases, Istituto Horst Schmidt Kliniken, Germany 12.05-12.20 Piedmont and Aosta Valley Inter-Regional Superiore di Sanità, Rome, Italy Marco Tartaglia, Bambino Gesù Children's Hospital, IRCCS, Network Coordinating Centre for Rare Stefano Collatina Consiglio di Amministrazione della Rome, Italy. Diseases, Turin University Fondazione Hopen Onlus, Rome, Italy Domenica Taruscio, National Centre for Rare Diseases, Istituto D. Roccatello, S. Baldovino, E. Menegatti Domenico Coviello, Diagnostic group, Scientific Committee for Superiore di Sanità, Rome, Italy 12.20-12.35 Udine Rare Diseases Centre Regional Coordination of rare diseases, A.Li.Sa. – Azienda B. Bembi Sanitaria Liguria Region, Genoa, Italy SCIENTIFIC DIRECTOR E SECRETARIAT GENERAL INFORMATION Target audience Scientific Director scientists, clinicians, patients and policy makers Domenica Taruscio National Centre for Rare Diseases ECM ACCREDITATIONS: NO Istituto Superiore di Sanità Viale Regina Elena , 299- 00161 Roma Participation is free of charge. The organizers will Tel. 0649904018 provide refreshments and lunch but will not pay for E-mail: [email protected] travel and accommodation expenses of attendees. Conference registration Secretariat Scientific The application form, available at F. Censi, M.C. De Stefano, Salvatore, https://it.surveymonkey.com/r/Conf_Nov20- 2017 National Centre for Rare Diseases must be duly completed and sent via web by 13/11/2017 Istituto Superiore di Sanità The application is properly sent only when the system Viale Regina Elena , 299- 00161 Roma displays the final ”thank you” page. Submissions will be Tel. 0649902805-0649904363 automatically accepted in chronological order of E-mail: [email protected] registration, until reaching the maximum meeting room capacity. Technical Secretariat Conference L. Agresta, G. Bernardo, P. Crialese, S. Certificate of attendance Diemoz, A. Vittozzi Participants will receive a certificate of attendance at the UNDIAGNOSED RARE DISEASES: National Centre for Rare Diseases end of Conference. Istituto Superiore di Sanità A JOINT ITALY-USA PROJECT Viale Regina Elena , 299- 00161 Roma November 20, 2017 Tel. +39 064990 4418-4017 Fax +39 064990 4370 For every relevant information related to the event, e-mail: [email protected] please contact the Scientific Secretariat . e-mail: [email protected] Aula Pocchiari Istituto Superiore di Sanità Viale Regina Elena 299, Roma .
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