An initiative of the International Rare Diseases Research Consortium-IRDiRC Spanish Rare Diseases Registries Research Network - SpainRDR Scientific Committee M Felicitas Domínguez Berjón Madrid, March 5th 2013 File: IR11/RDR-XX Years: Dec, 2011-Dec, 2013 ( )

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC Scientific Committee  Functions and objectives for 2013  Authorship policy  Possible scientific communication for 2013

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC Scientific Committee Functions To encourage scientific dissemination of SpainRDR by establishing priorities and opportunities for scientific communication (meetings and scientific publications) To promote the involvement of all human resources of the network following the authorship rules To act as advisory body of the Project Management Team (PMT) in case of conflict of interest between researchers of the SpainRDR group

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC Scientific Committee Objectives for 2013 To develop the proposal of standards for SpainRDR authorship To disseminate information about meetings and scientific publications which may be interesting for the scientific production of the SpainRDR (to all members of SpainRDR). To review the interests of the members of the Network for scientific dissemination in To participate in the preparation of the annual report of the scientific production of SpainRDR.

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC Authorship policy Authorship Acknowledgements / Funding Internal Communication Protocol for publications: using data from multiple nodes using data from a single node Internal Communication Protocol for Conferences and Scientific Meetings: using data from multiple nodes using data from a single node

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC Authorship policy SpainRDR follows the rules of authorship of the International Committee of the Medical Journal Editors (ICMJE). “ Authorship credit should be based on: 1) Substantial contributions to conception and design, or acquisition of data, or analysis and interpretation of data; 2) Drafting the article or revising it critically for important intellectual content; and 3) final approval of the version to be published. Authors should meet conditions 1, 2, and 3”.

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC Authorship policy The first author/s and author/s in the last position (where desired/ applicable) will be those who drafted the first draft of the manuscript based on the first analysis of the results. The rest of the authors will be included between the first author and the final author in order of importance in contributing to the work and if this was similar, it will appear in alphabetical order. When the journal only allows a limited number of authors, the alphabetical list will be replaced by: "and SpainRDR group“: If the paper has been developed under the consensus of the entire network. “and SpainRDR group“: If the article only requires the approval of the IPs "and xxx SpainRDR Working Group“: If it has been developed by a particular workgroup network

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC Authorship policy Node 1 Node 2 Node 3 Node 4 Yes No relevant PMT Nodes PMT

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC Possible scientific communication for 2013  General Protocol Data sources Coding Pilot Study Profitability of the data sources Audit on coding Rare Diseases (BMDS) y chronic renal diseases registry Profitability of other sources not included in the pilot study

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC Possible scientific communication for 2013  Specific Delphi study about patient registries Geographic analyses Implication of general practitioners in attention of RD Population-based registry of RD in one region (i.e. Andalucía) Screening of genetic metabolic diseases Specific diseases: congenital malformations, Cadasil syndrome, cystic fibrosis, porphyrias, pompe disease, Prader Willi, Down syndrome, ALS etc.

Mª Felicitas Domínguez Berjón Consejería de Sanidad. Madrid. Verónica Alonso Instituto de Salud Carlos III (ISCIII). Madrid. Anna María García Martínez Generalitat de Catalunya. Barcelona. Carmen Martos Centro Superior de Investigación en Salud Pública. Valencia. Carmen Navarro Instituto de Investigación Biomédica de Vigo. Pontevedra. Enrique Ramalle Dirección General de Salud Pública y Consumo, La Rioja. Logroño. SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC

Thank you very much! SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC