20 novembre 2017 – Istituto Superiore di Sanità, Roma: “UNDIAGNOSED RARE DISEASES: UN PROGETTO ITALIA-USA CONGIUNTO”

Presentazione dei risultati finali del progetto e condivisione dei risultati e degli sviluppi futuri con le parti interessate nazionali e internazionali

Con la partecipazione di Alessia Massaccesi in rappresentanza del Comitato I Malati Invisibili Onlus per testimoniare l’attività che il Comitato in questi anni ha portato avanti a favore dei malati rari e non diagnosticati e l’apertura del primo centro clinico in Italia per Malati Orfani di Diagnosi.

SESSION 1: The International and the ISS Undiagnosed Diseases Network – UDN

Chair: Giuseppe Novelli

9.10-9.40 The USA Undiagnosed Diseases Network (UDN) – D. Adams

David Adams, NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, United States

9.40-9.55 The Wilhem Foundation – H. Cederroth

Helene Cederroth, Wilhelm Foundation, Sweden

Helene Cederroth, Wilhelm Foundation, Sweden

9.55-10.15 Undiagnosed Diseases: International Network and the ISS Italy-USA Project – D. Taruscio

Domenica Taruscio, National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy

10.15-10.30 Data sharing in ISS UDN Network: using

Saluto di Walter Ricciardi, President of Istituto Superiore di Sanità, Rome, Italy

Walter Ricciardi, President of Istituto Superiore di Sanità, Rome, Italy

PhenoTips and PhenomeCentral tools – M. C. De Stefano, M. Salvatore, F. Censi., G.Floridia

M. C. De Stefano, National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy

10.30-10.45 ISS UDN: next steps – M. Salvatore

10.45-11.00 Discussion

11.00-11.20 Coffe Break
Results of the Centres involved in the USA-Italy Project:

11.20-11.35 Tor Vergata University, L’Aquila University – F. Brancati, G. Novelli

Tor Vergata University, L’Aquila University – F. Brancati

11.35-11.50 Ferrara University – A. Ferlini, M. Neri

11.50-12.05 IRCCS – Mario Negri Institute for Pharmacological Research Clinical Research Center for Rare Diseases “Aldo e Cele Daccò”, Ranica – E. Daina, P. Iatropoulos, G. Remuzzi

12.05-12.20 Piedmont and Aosta Valley Inter-Regional Network Coordinating Centre for Rare
Diseases, Turin University – D. Roccatello, S. Baldovino, E. Menegatti

12.20-12.35 Udine Rare Diseases Centre – B. Bembi

12.35-13.00 Discussion
13.00-13.45 Lunch

SESSION 2:Further Italian experiences on Undiagnosed Diseases

Chair: Giuseppe Remuzzi and Domenica Taruscio
13.45-14.05 Undiagnosed Diseases: the experience of the Ospedale Pediatrico Bambino Gesù – M. Tartaglia, B. Dallapiccola

14.05-14.25 Telethon Network for Undiagnosed Diseases – V. Nigro, G. Casari

14.25-16.00 Round Table “From National Network for Rare diseases, to European Reference Networks and International initiatives: strengths, weaknesses and opportunities” – D. Roccatello, E. Daina, B. Bembi, M. Di
Rocco, D. Coviello, D. Taruscio, L. Guidotti, O. Horst Riess, M. Scarpa, M.
Mosca, L. Sangiorgi, C. Ales

Domenico Coviello, Diagnostic group, Scientific Committee for Regional Coordination of rare diseases, A.Li.Sa. – Azienda Sanitaria Liguria Region, Genoa, Italy

Maya Di Rocco, Clinical group, Scientific Committee for Regional Coordination of rare diseases A.Li.Sa. – Azienda Sanitaria Liguria Region, Genoa, Italy

Claudio Ales, European Patient Advocay Group representative, Palermo, Italy

16.00-16.20 The experiences of Patient Associations – A. Massaccesi, S. Collatina

Alessia Massaccesi, Comitato ” I Malati Invisibili Onlus”, Genoa, Italy

Comitato I Malati Invisibili Onlus, Genoa, Italy

Deborah Capanna, Presidente del Comitato I Malati Invisibili Onlus, Genoa, Italy

Stefano Collatina Consiglio di Amministrazione della Fondazione Hopen Onlus, Rome, Italy

16.20-17.00 General discussion

17.00 End of Conference

Speakers and Chairs

• David Adams, NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, United States
• Claudio Ales, European Patient Advocay Group representative, Palermo, Italy
• Simone Baldovino, Center of Research of Immunopathology and Rare Diseases – Coordinating Center of the Network for Rare Diseases of Piedmont and Aosta Valley, University of Turin, Turin, Italy
• Bruno Bembi, Regional Coordinator Center for Rare Diseases, Academic Hospital of Udine, Udine, Italy. Francesco Brancati, L’Aquila University, L’Aquila, Italy
• Alessia Massaccesi, Comitato “I Malati Invisibili”, Genoa, Italy
• Giorgio Casari, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy
• Helene Cederroth, Wilhelm Foundation, Sweden
• Federica Censi, National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
• Stefano Collatina Consiglio di Amministrazione della Fondazione Hopen Onlus, Rome, Italy
• Domenico Coviello, Diagnostic group, Scientific Committee for Regional Coordination of rare diseases, A.Li.Sa. – Azienda Sanitaria Liguria Region, Genoa, Italy
• Erica Daina, IRCCS – Mario Negri Institute for Pharmacological Research Clinical Research Center for Rare Diseases “Aldo e Cele Daccò”, Ranica, Italy
• Bruno Dallapiccola, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy.
• Maria Chiara de Stefano, National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
• Maya Di Rocco, Clinical group, Scientific Committee for Regional Coordination of rare diseases A.Li.Sa. – Azienda Sanitaria Liguria Region, Genoa, Italy
• Alessandra Ferlini, University-Hospital of Ferrara, Italy
• Giovanna Floridia, Bioethics Unit, Istituto Superiore di Sanità, Rome, Italy
• Lucia Guidotti, Direzione Generale della Programmazione Sanitaria- Ministero della Salute
• Paraskevas Iatropoulos, IRCCS – Mario Negri Institute for Pharmacological Research Clinical Research Center for Rare Diseases “Aldo e Cele Daccò”, Ranica, Italy
• Alessia Massaccesi, Comitato ” I Malati Invisibili Onlus”, Genoa, Italy
• Elisa Menegatti, Center of Research of Immunopathology and Rare Diseases – Coordinating Center of the Network for Rare Diseases of Piedmont and Aosta Valley, University of Turin, Turin, Italy
• Marta Mosca, ERN ReCONNECT, University-Hospital Pisana, Pisa, Italy
• Marcella Neri, University-Hospital of Ferrara, Italy
• Vincenzo Nigro, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy
• Giuseppe Novelli, Tor Vergata University, Rome, Italy
• Giuseppe Remuzzi, IRCCS – Mario Negri Institute for Pharmacological Research Clinical Research Center for Rare Diseases “Aldo e Cele Daccò”, Ranica, Italy
• Walter Ricciardi, President of Istituto Superiore di Sanità, Rome, Italy
• Olaf Horst Riess, Institute of Human Genetics and Applied Genomics, University of Tübingen, Germany
• Dario Roccatello, Center of Research of Immunopathology and Rare Diseases – Coordinating Center of the Network for Rare Diseases of Piedmont and Aosta Valley University of Turin, Turin, Italy
• Marco Salvatore, National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
• Luca Sangiorgi, ERN BOND, Istituto Ortopedico Rizzoli, Bologna, Italy
• Maurizio Scarpa, Coordinator of ERN Coordinators
• Helios Dr Horst Schmidt Kliniken, Germany
• Marco Tartaglia, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy
• Domenica Taruscio, National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.

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