Ausgabe Sonderheft 1/2014
7th European Conference on Rare Diseases and Orphan Products (ERCD 2014)
Inhalt (48 Artikel)
The Epidermolysis bullosa Center Freiburg – patient care, diagnostics and research
Leena Bruckner-Tuderman, Daniela Kirstein
Perspective having a Centre of Expertise that covers more than one rare disease
John R Ostergaard
Quality monitoring in the English National Health Service
Edmund Jessop
FindZebra - the search engine for difficult medical cases
Ole Winther, Dan Svenstrup, Philip P Henningsen, Róbert Kristiásson, Henrik L Jørgensen
Towards a European platform for Rare Diseases Registries
Ciarán Nicholl
The French national registry for rare diseases: an integrated model from care to epidemiology and research
Rémy Choquet, Paul Landais
OSSE – open source registry software solution
Marita Muscholl, Martin Lablans, Thomas OF Wagner, Frank Ückert
German approach of coding rare diseases with ICD-10-GM and Orpha numbers in routine settings
Stefanie Weber, Magdalena Dávila
European Network of Rare Disease Help Lines (ENRDHLs) – caller profile analysis 2013
Georgi Iskrov, François Houÿez
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 Alonso Ferreira, M Hens-Pérez, FJ Manzanares
Reimbursement of orphan drugs: the Pompe and Fabry case in the Netherlands
Rinke van den Brink
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 Haffner
Health care cost-containment measures in the context of the economic crisis: impact analysis
François Houÿez, Ludovic Tessier, Dimitrios Synodinos
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 Pani
A company experience of the first MoCA pilot project
Wills Hughes-Wilson
Identifying specific social challenges of rare diseases: current challenges and issues
Dorica Dan, Raquel Castro
Specific social challenges for rare diseases: the French experience, 2005-2014
Christel Nourissier
Patient innovation under rare diseases and chronic needs
Pedro Oliveira, Leid Zejnilovic, Helena Canhão, Eric von Hippel
Can people living with a rare disease be independent? Inspiring personal stories
Gabor Pogany
Setting up strategies: patient inclusion in biobank and genomics research in Europe
Pauline McCormack, Anna Kole
Preserving the owner’s autonomy in networks of patient registries and biobanks
Martin Lablans, Dennis Kadioglu, Marita Muscholl, Frank Ückert
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 Lochmüller
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 Ekins
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 Hermes
Integration of Rare Diseases into Social Services
Raquel Castro, Dorica Dan
National Rare Disease Registries: overview from Spain
M Posada 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 García Ribes, C Navarro, M Errezola, ME Ardanaz, A Almansa, P Garcia-Primo, MJ Carroquino, I Abaitua
How to code rare diseases with international terminologies?
Ana Rath, Bertrand Bellet, Annie Olry, Catherine Gonthier, Ségolène Aymé
The importance of helplines in National Plans
Monica Mazzucato, François Houyez, Paola Facchin
Emergency guidelines and emergency cards
Véronique Faucounneau, Ana Rath
OrphanAnesthesia – anesthesia recommendations for patients suffering from rare diseases
Tino Münster
Use of animal models for exome prioritization of rare disease genes
Damian Smedley, Sebastian Kohler, William Bone, Anika Oellrich, Jules Jacobsen, Kai Wang, Chris Mungall, Nicole Washington, Sebastian Bauer, Dominic Seelow, Peter Krawitz, Cornelius Boerkel, Christian Gilissen, Melissa Haendel, Suzanna E Lewis, Peter N Robinson
The experience of a charity in translating the results of basic research to therapies for patients
Lucia Monaco
Findacure – the Fundamental Diseases Partnership
Anthony K Hall, Nicolas T Sireau
Early access to medicinal products: potential and limits
Pauline J Evers
Managed entry agreements
Luisa AA Muscolo, Claudia Bernardini, Paolo D Siviero, Simona Montilla, Luca Pani
Differential pricing: solidarity at times of financial crisis
Flaminia Macchia
Rare diseases and disabilities: improving the information available with three Orphanet projects
Myriam de Chalendar, Marie Daniel, Annie Olry, Ana Rath
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 Ueckert
Characterization and classification of Rare Disease Registries by using exploratory data analyses
Alessio Coi, Michele Santoro, Michele Lipucci, Anna Maria Bianucci, Sabina Gainotti, Emanuela Mollo, Luciano Vittozzi, Domenica Taruscio, Fabrizio Bianchi
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 Posada de la Paz
The RE(ACT) Initiative and the use of an online community to enhance research on rare diseases
Olivier Menzel
New e-health services for the European Network for Rare and Congenital Anaemias (e-ENERCA)
J L Vives Corrons, M Mañú Pereira, L Olaya
Evolution of national and European policies in the field of rare diseases and their impact over the past five years
Charlotte Rodwell, Ségolène Aymé