RARE DISEASE AND ORPHAN DRUG REGISTRIES International Workshop October 8-9, 2012 Italian National Institute of Health – Viale Regina Elena, 299 – Rome (Italy)

The International Workshop “Rare Disease and Orphan Drug Registries” is organized in the framework of the EPIRARE project (“European Platform for Rare Disease Registries”, co-funded by EU Commission, DG SANCO). It is open to scientists, clinicians, patients’ and parents’ Associations, policy makers and enterprises. The main aims of the workshop are: (i) to share different …

RARE DISEASE AND ORPHAN DRUG REGISTRIES International Workshop October 8-9, 2012 Italian National Institute of Health – Viale Regina Elena, 299 – Rome (Italy) Weiterlesen »


Please contact: Domenica Taruscio Italian National Centre for Rare Diseases Italian National Institute of Health Viale Regina Elena, 299 00161 Rome – Italy Phone +39 06 4990 4016 Fax +39 06 4990 4370


Rome, 21 October 2013 Aims of the International Workshop Domenica Taruscio   European Union action in the field of Rare Diseases Antoni Montserrat Moliner   Toward a European Platform for Rare Diseases Registries Simona Martin   The EPIRARE proposal for a EU platform Luciano Vittozzi   E-Rare Daria Julkowska   EU Research Infrastructures Filippo Belardelli …

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2013 October RARE DISEASE AND ORPHAN DRUG REGISTRIES Second edition of the International Workshop Date:October 21-22, 2013 Venue: Italian National Institute of Health – V.le Regina Elena, 299 – Rome (Italy) September RARE DISEASE AND ORPHAN DRUG REGISTRIES The International Summer School Date:September 16-20, 2013 Venue: Italian National Institute of Health – Rome (Italy) details …

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Collaborating Partners

BELGIUM Samantha Parker Joint EBE-EuropaBio Task Force on Rare Diseases and Orphan Drugs FRANCE Jamie Levey European Huntington’s Disease Network (Euro-HD Network) Agnès Bloch-Zupan University of Strasbourg Guillaume Bassez DM scope registry (Myotonic dystrophy survey and communication platform); Hopital Henri Mondor Vanessa Ferreira Lysogene Ha Trang French Center of reference for Central Hypoventilation syndrome François-Noel …

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Rare Disease Registries Classification and Characterization: A Data Mining Approach Santoro M., Coi A., Lipucci Di Paola M., Bianucci A.M., Gainotti S., Mollo E., Taruscio D., Vittozzi L., Bianchi F. Public Health Genomics 2015;18:113-122 (DOI:10.1159/000369993) Characterization and classification of Rare Disease Registries by using exploratory data analyses Alessio Coi, Michele Santoro, Michele Lipucci, Anna Maria …

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Specific objectives

1. Define the needs of the EU registries and databases on rare diseases To define the state of the art of existing registries with reference to their legal basis; organizational and IT measures used; type of data collected; compliance with the rules on personal data protection; quality assurance; operational and financial support. 2. Identify key …

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The Epirare project

EPIRARE (European Platform for Rare Disease Registries) is a three-year project co-funded by the European Commission within the EU Program of Community Action in the field of Public Health. EPIRARE started officially on April 15, 2011.


Following the concerns raised by the report introducing the Parliamentary discussion on the General Data Protection Regulation, we have published a petition („Don’t Stop Research on Rare Diseases!“) to the European Parliament and to the EU Council. Read more on the reasons for this petition in your preferred language here: NEZASTAVUJTE VÝZKUM V OBLASTI VZÁCNÝCH …

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Associated Partners

Domenica Taruscio, Luciano Vittozzi, Sabina Gainotti, Yllka Kodra, Emanuela Mollo, Martina Greco Coordinating Team – National Centre for Rare Diseases, Istituto Superiore di Sanità (Italy) Rumen Stefanov, Tzonka Miteva Information Centre for Rare Diseases and Orphan Drugs-BAPES (Bulgaria) Franco Cavallo University of Turin (Italy) Manuel Posada de la Paz, Manuel Hens, Ana Villaverde, Ignacio Abaitua …

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The EPIRARE Meetings

Project achievements including internal meetings. See the datails of EPIRARE meetings: Rome, 11-12 July 2011 Brussels, 23 May 2012 Rome, 8-9 October 2012 Rome, 21-22 October 2013 Rome, 4-5 March 2014 Rome, 24-25 November 2014

Final EPIRARE Deliverables

DELIVERABLE 1.1 The current situation, the challenges and the expectations on Patient registries and Databases. I – The current context DELIVERABLE 1.2 The Current Situation, the Challenges and the Expectations on Patient Registries and Databases. II – Results of the Patient Survey DELIVERABLE 1.3 The current situation, the challenges and the expectations on Patient registries …

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The Epirare Survey

The EPIRARE survey intends to explore the functioning, resources, problems, needs and expectations of existing registers in European Member States and in other Countries. The final aim is to develop tools and services in support of existing registers and to favour the creation of new ones where needed. The survey is directed to both active …

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