Orphanet Journal of Rare Diseases | Supplements | 7th European Conference on Rare Diseases and Orphan Products (ERCD 2014)

Orphanet Journal of Rare Diseases | Supplements | 7th European Conference on Rare Diseases and Orphan Products (ERCD 2014)

EUROPEAN CONFERENCE ON RARE DISEASES & ORPHAN PRODUCTS

A vital event for the rare disease community  Meeting abstracts from ECRD 2014 Berlin now freely available online in the Orphanet Journal of Rare Diseases! Orphanet Journal of Rare Diseases publishes selected collections of research articles, conference proceedings, reviews and reports as supplements, which are free to access online. All articles published in supplements are subject to peer review; meeting abstracts undergo review and selection by the conference. Find out more about publishing a supplement with BioMed Central. Volume 9 Supplement 1 7th European Conference on Rare Diseases and Orphan Products (ERCD 2014) Meeting abstracts 7th European Conference on Rare Diseases and Orphan Products (ECRD 2014) Berlin, Germany 8-10 May 2014 This publication has been funded with support from the European Union's Health Programme. This material only reflects the views of the author, and funders cannot be held responsible for any use which may be made of the information contained herein. Conference website Oral presentation    The Epidermolysis bullosa Center Freiburg – patient care, diagnostics and research Leena Bruckner-Tuderman, Daniela KirsteinOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O1 (11 November 2014) Full text | PDF Oral presentation    Perspective having a Centre of Expertise that covers more than one rare disease John R OstergaardOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O2 (11 November 2014) Full text | PDF Oral presentation    Quality monitoring in the English National Health Service Edmund JessopOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O3 (11 November 2014) Full text | PDF Oral presentation    Evaluation of Centres: the French experience since 2009 S SarnackiOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O4 (11 November 2014) Full text | PDF Oral presentation    FindZebra - the search engine for difficult medical cases Ole Winther, Dan Svenstrup, Philip P Henningsen, Róbert Kristiásson, Henrik L JørgensenOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O5 (11 November 2014) Full text | PDF Oral presentation    Towards a European platform for Rare Diseases Registries Ciarán NichollOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O6 (11 November 2014) Full text | PDF Oral presentation    The French national registry for rare diseases: an integrated model from care to epidemiology and research Rémy Choquet, Paul LandaisOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O7 (11 November 2014) Full text | PDF Oral presentation    National Rare Disease Registries: overview from Spain M de la Paz, V Alonso, O Zurriaga, J Astray, JM Aldana-Espinal, MJ Margolles, J Jiménez, JA Palomar, M Santana, E Ramalle-Gomarra, JM Ramos, FE Arribas, R Álamo, G Gutiérrez-Ávila, A Galmés, M Ribes, C Navarro, M Errezola, ME Ardanaz, A Almansa, P Garcia-Primo, MJ Carroquino, I AbaituaOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O8 (11 November 2014) Full text | PDF Oral presentation    OSSE – open source registry software solution Marita Muscholl, Martin Lablans, Thomas OF Wagner, Frank ÜckertOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O9 (11 November 2014) Full text | PDF Oral presentation    German approach of coding rare diseases with ICD-10-GM and Orpha numbers in routine settings Stefanie Weber, Magdalena DávilaOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O10 (11 November 2014) Full text | PDF Oral presentation    How to code rare diseases with international terminologies? Ana Rath, Bertrand Bellet, Annie Olry, Catherine Gonthier, Ségolène AyméOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O11 (11 November 2014) Full text | PDF Oral presentation    The importance of helplines in National Plans Monica Mazzucato, François Houyez, Paola FacchinOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O12 (11 November 2014) Full text | PDF Oral presentation    European Network of Rare Disease Help Lines (ENRDHLs) – caller profile analysis 2013 Georgi Iskrov, François HouÿezOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O13 (11 November 2014) Full text | PDF Oral presentation    RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases D Taruscio, C Morciano, P Laricchiuta, P Mincarone, F Palazzo, CG Leo, S Sabina, R Guarino, J Auld, T Sejersen, D Gavhed, K Ritchie, M Hilton-Boon, J Manson, PG Kanavos, D Tordrup, V Tzouma, Y Le Cam, J Senecat, G Filippini, S Minozzi, C Del Giovane, H Schünemann, JJ Meerpohl, B Prediger, L Schell, R Stefanov, G Iskrov, T Miteva-Katrandzhieva, P Serrano-Aguilar, L Perestelo-Perez, MM Trujillo-Martín, J Pérez-Ramos, A Rivero-Santana, A Brand, H van Kranen, K Bushby, A Atalaia, J Ramet, L Siderius, M Posada, I Abaitua-Borda, V Ferreira, M Hens-Pérez, FJ Manzanares et al.Orphanet Journal of Rare Diseases 2014, 9(Suppl 1):O14 (11 November 2014) Full text | PDF Oral presentation    Emergency guidelines and emergency cards Véronique Faucounneau, Ana RathOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O15 (11 November 2014) Full text | PDF Oral presentation    OrphanAnesthesia – anesthesia recommendations for patients suffering from rare diseases Tino MünsterOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O16 (11 November 2014) Full text | PDF Oral presentation    Reimbursement of orphan drugs: the Pompe and Fabry case in the Netherlands Rinke van den BrinkOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O17 (11 November 2014) Full text | PDF Oral presentation    The Biopontis Alliance Rare Disease Foundation (BARDF) – an innovative model for early stage rare disease therapy financing and development Erik T Tambuyzer, Barbara L Handelin, Richard A Basile, Marlene E HaffnerOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O18 (11 November 2014) Full text | PDF Oral presentation    Use of animal models for exome prioritization of rare disease genes Damian Smedley, Sebastian Kohler, William Bone, Anika Oellrich, Jules Jacobsen, Sanger Mouse Genetics Project, Kai Wang, Chris Mungall, Nicole Washington, Sebastian Bauer, Dominic Seelow, Peter Krawitz, Cornelius Boerkel, Christian Gilissen, Melissa Haendel, Suzanna E Lewis, Peter N RobinsonOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O19 (11 November 2014) Full text | PDF Oral presentation    The experience of a charity in translating the results of basic research to therapies for patients Lucia MonacoOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O20 (11 November 2014) Full text | PDF Oral presentation    Health care cost-containment measures in the context of the economic crisis: impact analysis François Houÿez, Ludovic Tessier, Dimitrios SynodinosOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O21 (11 November 2014) Full text | PDF Oral presentation    Understanding off-label use and the new challenges Marc DoomsOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O22 (11 November 2014) Full text | PDF Oral presentation    Findacure – the Fundamental Diseases Partnership Anthony K Hall, Nicolas T SireauOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O23 (11 November 2014) Full text | PDF Oral presentation    Early access to medicinal products: potential and limits Pauline J EversOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O24 (11 November 2014) Full text | PDF Oral presentation    Are we ready? What is missing and what is needed? A regulator’s perspective Claudia Bernardini, Luisa AA Muscolo, Paolo D Siviero, Simona Montilla, Luca PaniOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O25 (11 November 2014) Full text | PDF Oral presentation    A company experience of the first MoCA pilot project Wills Hughes-WilsonOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O26 (11 November 2014) Full text | PDF Oral presentation    Managed entry agreements Luisa AA Muscolo, Claudia Bernardini, Paolo D Siviero, Simona Montilla, Luca PaniOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O27 (11 November 2014) Full text | PDF Oral presentation    Differential pricing: solidarity at times of financial crisis Flaminia MacchiaOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O28 (11 November 2014) Full text | PDF Oral presentation    Identifying specific social challenges of rare diseases: current challenges and issues Dorica Dan, Raquel CastroOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O29 (11 November 2014) Full text | PDF Oral presentation    Specific social challenges for rare diseases: the French experience, 2005-2014 Christel NourissierOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O30 (11 November 2014) Full text | PDF Oral presentation    Rare diseases and disabilities: improving the information available with three Orphanet projects Myriam de Chalendar, Marie Daniel, Annie Olry, Ana RathOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O31 (11 November 2014) Full text | PDF Oral presentation    Social profiles project - only the strong survive Birthe HolmOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O32 (11 November 2014) Full text | PDF Oral presentation    Patient innovation under rare diseases and chronic needs Pedro Oliveira, Leid Zejnilovic, Helena Canhão, Eric von HippelOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O33 (11 November 2014) Full text | PDF Oral presentation    Can people living with a rare disease be independent? Inspiring personal stories Gabor PoganyOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O34 (11 November 2014) Full text | PDF Oral presentation    Empowerment Weekends for young adults Annette Lemli, Nicole SchwarzerOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):O35 (11 November 2014) Full text | PDF Poster presentation    Se-atlas-cartographic representation of experts for rare diseases Holger Storf, Tobias Hartz, Wulf Pfeiffer, Kathrin Rommel, Mareike Derks, Elisabeth Nyoungui, Joerg Schmidtke, Holm Graessner, Mirjam Knoell, Thomas Wagner, Frank UeckertOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):P1 (11 November 2014) Full text | PDF Poster presentation    Setting up strategies: patient inclusion in biobank and genomics research in Europe Pauline McCormack, Anna KoleOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):P2 (11 November 2014) Full text | PDF Poster presentation    Preserving the owner’s autonomy in networks of patient registries and biobanks Martin Lablans, Dennis Kadioglu, Marita Muscholl, Frank ÜckertOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):P3 (11 November 2014) Full text | PDF Poster presentation    Characterization and classification of Rare Disease Registries by using exploratory data analyses Alessio Coi, Michele Santoro, Michele Lipucci, Anna Bianucci, Sabina Gainotti, Emanuela Mollo, Luciano Vittozzi, Domenica Taruscio, Fabrizio BianchiOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):P4 (11 November 2014) Full text | PDF Poster presentation    National rare diseases registry in Spain: pilot study of the Spanish Rare Diseases Registries Research Network (SpainRDR) Verónica Alonso, Ignacio Abaitua, Óscar Zurriaga, Jenaro Astray, Manuel Errezola, Josefa M Aldana-Espinal, Mario J Margolles, Josep Jiménez, Joaquín A Palomar, Milagrosa Santana, Enrique Ramalle-Gomarra, Julián M Ramos, Federico E Arribas, Rufino Álamo, Gonzalo Gutiérrez-Ávila, Antònia Galmés, Miguel García-Ribes, Carmen Navarro, Eva Ardanaz, Manuel de la PazOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):P5 (11 November 2014) Full text | PDF Poster presentation    UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry Libby Wood, Teresinha Evangelista, Fiona Norwood, Richard Orrell, Marita Pohlschmidt, Mark Busby, Andrew Graham, David Hilton-Jones, Cheryl Longman, Peter Lunt, Mark Roberts, Stuart Watt, Suzanne Watt, Tracey Willis, Hanns LochmüllerOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):P6 (11 November 2014) Full text | PDF Poster presentation    Sanfilippo syndrome registry project and natural history studies: an example of patients, parents and researchers collaborating for a cure Jill Wood, Stuart Siedman, Jennifer Siedman, Paul Levy, Kyle Brown, Kim McBride, Kevin Flanigan, Raquel Marques, Arleta Feldman, Robert PleHcha, Sean EkinsOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):P7 (11 November 2014) Full text | PDF Poster presentation    The RE(ACT) Initiative and the use of an online community to enhance research on rare diseases Olivier MenzelOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):P8 (11 November 2014) Full text | PDF Poster presentation    New e-health services for the European Network for Rare and Congenital Anaemias (e-ENERCA) J L Vives Corrons, M Mañú Pereira, L OlayaOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):P9 (11 November 2014) Full text | PDF Poster presentation    Prenatal therapy in developmental disorders: drug targeting via intra-amniotic injection to treat X-linked hypohidrotic ectodermal dysplasia Holm Schneider, Pascal Schneider, Peter Krieg, AnhThu Dang, Kenneth Huttner, Katharina HermesOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):P10 (11 November 2014) Full text | PDF Poster presentation    Integration of Rare Diseases into Social Services Raquel Castro, Dorica DanOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):P11 (11 November 2014) Full text | PDF Poster presentation    E-learning course for Norwegian caregivers Gro TraeOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):P12 (11 November 2014) Full text | PDF Poster presentation    Evolution of national and European policies in the field of rare diseases and their impact over the past five years Charlotte Rodwell, Ségolène AyméOrphanet Journal of Rare Diseases 2014, 9(Suppl 1):P13 (11 November 2014) Full text | PDF