Posters | ECRD 2014 : The European Conference on Rare Diseases & Orphan ProductsPosters

Posters | ECRD 2014 : The European Conference on Rare Diseases & Orphan ProductsPosters

CONFERENCIA EUROPEA SOBRE ENFERMEDADES RARAS Y PRODUCTOS HUÉRFANOS

Un evento imprescindible para el colectivo de enfermedades raras ¡Echa un vistazo a los carteles expuestos en la ECRD 2014 Berlín! Disponibles en línea y en la aplicación para móviles gratuita ECRD Posters Patient organisations, academics, health care professionals and all other interested parties who have conducted research or studies on rare diseases or public health projects were invited to submit a poster abstract to the ECRD 2014. The top 200 abstracts were selected by the Poster Committee to be presented at ECRD 2014. Posters are also available on our ECRD mobile application. See here for more details on how to download.  Theme 1: Improving Healthcare Services Haemoglobinopathies in Europe: Health & Migration Policy Perspectives – Patricia Aguilar Martinez, Michael Angastiniotis, Androulla Eleftheriou, Beatrice Gulbis, Maria del Mar Mañú Pereira, Roumyana Petrova-Benedict, Joan-Lluis Vives Corrons se-atlas: Cartographic Representation of Experts on Rare Diseases – Holger Storf, Tobias Hartz, Wulf Pfeiffer, Kathrin Rommel, Mareike Derks, Elisabeth Nyoungui, Jörg Schmidtke, Holm Graessner, Mirjam Knoell, Thomas Wagner, Frank Ückert EB House Austria and EB-CLINET: A Centre of Expertise (CE) and a model for establishing a European Reference Network (ERN) for Genodermatoses – Gabriela Pohla-Gubo, Elisabeth Mühringer, Rainer Riedl, Johann W. Bauer, Helmut Hintner A correct and timely diagnosis for patients with a suspected rare disease is most important for an adequate disease management. In many patients a correct diagnosis is delayed despite multiple visits at different medical specialists. Information about the diagnostic pathway is still scarce. To better understand and improve the diagnostic pathway sufficient data is required – S. Mende, C. Scholz, T. Rebe, M. Stuhrmann, M. Engel , C. Zeidler The impact of rare diseases on the health care system: linking the Veneto Region Rare Diseases Registry with health current statistics – Laura Visonà Dalla Pozza, Michela Biasio, Ema Toto, Paola Facchin The First Year of Activity of Students’ Scientific Circle on Rare Diseases in Pomeranian Medical University in Szczecin, Poland – Michał Skoczylas, Jacek Rudnicki, Marcin Sawicki, Anna Walecka From Life Stories to the Healthcare System: Narrative Medicine and Rare Diseases– Amalia Egle Gentile, Marta De Santis, Carlo Donati, Emanuela Mollo, Agata Polizzi, Domenica Taruscio A Standard of Care in Huntington’s Disease – D Rae, A Hamilton, Z Miedzybrodzka on behalf of the EHDN Standards of Care Working Group A Survey on the Centres of Expertise for Rare Diseases in Italy – R. Mingarelli, S. Ciampa, R. Ruotolo, M. Di Giacinto, S. Festa, E. Cocchiara, B. Dallapiccola The Projects 12 months 12 Therapeutic Groups and Everyone adds in the Community of Madrid – Isabel Fernandez, Isabel Motero y Alba Ancochea Only the strong survive – Birthe Byskov Holm, Lene Jensen Rare Disease Centre at Hannover Medical School: experiences of two years work – C. Scholz, S. Mende, T. Rebe, J. Schmidtke, C. Zeidler, M. Stuhrmann Health care transition in rare diseases patients: results from a population-based Registry – Monica Mazzucato, Cinzia Minichiello, Martina Bua, Paola Facchin Assessing the potential of a European Reference Network for Neuromuscular Diseases: outcomes of an ENMC workshop – Teresinha Evangelista, Baziel van Engelen, Kate Bushby Treatment of patients with rare diseases: individual treatments or protocols? - M. Volta, M. Vizioli, E. Calzolari, E. Rozzi, E. Di Rusci Clinical Utility Gene Cards and the next-generation sequencing (NGS) database – Anna Dierking, Jörg Schmidtke Impact of pulmonary arterial hypertension (PAH) on the lives of patients and carers - Pisana Ferrari, Iain Armstrong, Rino Aldrighetti, Luke Howard, Henrik Ryftenius, Aryeh Fischer, Sandra Lombardi, Sean Studer, Loïc Guillevin Comparative assessement of family’s experience of patients with Dravet Syndrome on the use of rectal diazepam and buccal midazolam – Nathalie Coqué, Nicole Chemaly, Rima Nabbout The European Huntington’s Disease Network – Young Adults Working Group – Michael Orth, Jamie Levey, David Drain, Michaela Grein EUCERD Joint Action (EJA). WP7: “Quality of care / Centres of Expertise” – Africa Villanueva, Richard Woolley, Virginia Corrochano, Beatriz Gómez, Jordi Molas, José David Barberá, Francesc Palau A Clinical advisory board for a Rare disease (Prader-Willi Syndrome) - Susanne Blichfeldt, Stense Farholt Survey of people affected by rare diseases in Quebec, Canada: their experience from diagnosis to treatment and with their entourage – Gail Ouellette, Brigitte Bélanger Improving healthcare in adult patients with rare diseases in Poland – Joanna Sulicka, Joanna Pera, Magdalena Strach, Jarosław Królczyk, Izabella Kierzkowska, Agnieszka Słowik, Tomasz Grodzicki Newborn Screening For Inherited Metabolic Diseases: the Network Of Emilia-Romagna Region – M. Volta, E. Rozzi, A. Cassio, G. Biasucci, F. Righetti, M.O. Bal, F. Baronio, I. Bettocchi, E. Di Ruscio  Understanding the cost of hereditary angioedema in England – M. Helbert, T. Holbrook, A. MacCulloch, A. Mannan Quality analysis of health care network through patients’ and families’ judgment – Silvia Manea, Sara Barbieri, Miriam De Lorenzi, Paola Facchin Road to a cure for Dravet syndrome - Ana Mingorance-Le Meur, Marisol Montolio, Julian Isla, Luis Miguel Aras Gene Panel Diagnostics for Disorders with Abnormal Bone Mass – Uwe Kornak, Björn Fischer, Ralf Oheim, Peter Krawitz, Tomasz Zemojtel, Michael Amling, Stefan Mundlos, Peter N. Robinson Establishment of narcolepsy-centres in Germany – Ulf Kallweit, Geert Mayer, Norbert Dahmen, Volker Westdickenberg, Christine Pitzen, Claudia Schitto An appropriate way of organizing services for rare disorders - Lena Lande Wekr, Lena Haugen, Kjersti Vardeberg Assessing health care utilization and health care needs in HD patients in South East health region, Norway – M.R. v Walsem, E. Howe, J.C. Frich, N. Andelic Genodermatoses Network – Towards a Rare And Severe Skin Diseases European Reference Network sharing experience and knowledge with Mediterranean and Middle-Eastern experts and centres – Christine Bodemer, Johann Bauer Understanding the healthcare experiences and needs of people living with Huntington’s Disease (HD): an exploratory study - D Rae, S McCann, Z Miedzybrodzka on behalf of the EHDN Standards of Care Working Group Rare professionals for rare diseases – Piergiorgio Miottello, Giulia Mariani Multidisciplinary clinic for patients with Gorlin syndrome in Norway – Charlotte von der Lippe, Lajla Schulz Boys with sex chromosome aneuploidies (SCA) compared to a clinical sample – K. Fjermestad, S. Stokke Improving health care and social services for patients with Neuro-muscular diseases in the Southeast healthcare region in Sweden – Rebecka Pestoff, Charlotte Lilja, Olof Danielsson, Cecilia Gunnarsson Interdisciplinary care for patients with Usher Syndrome, a rare genetic disorder without cure – How patients help making a difference – Barbara Hein, Hans-Jürgen Krug, Marcell Feldmann, Daniel J. Salchow, Manfred Gross Congenital Erythropoietic Porphyrias In Turkey – Ismail Kurt, Metin Uyanik, Erdim Sertoglu, Serkan Tapan Acute Porphyrias in Turkey – Ismail Kurt, Metin Uyanik, Erdim Sertoglu, Serkan Tapan The Role of a Patient Organisation in a Scientific Project - an example of collaboration between a patient organisation and a scientist – Ingunn Westerheim, Lena Lande Wekre European young investigators network for Usher syndrome – Kerstin Nagel-Womfrum, Sérgio da Silva, Eduardo José Duarte, Ieva Sliesoraityte, Christel Vaché, Erwin van Wijk Theme 2:Knowledge Generation & Dissemination Mapping the differences in care for 5000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe - Catherine L Bladen, The TREAT-NMD SMA registry group, Hanns Lochmuller Strategies for citizen control: patient involvement in biobank and genomics research in Europe - RD Connect with Neuromics and EURenOmics – Pauline McCormack, Anna Kole The Orphanet Rare Diseases Ontology (ORDO) : a reference tool integrating clinical and genetic data – A Rath, A . Olry, C.  Gonthier, L. Chanas, H. Parkinson, J. Malone, D. Vasant, M. Hanauer, B. Urbero, S. Aymé Compassionate use of orphan drugs – H.I. Hyry, T.M. Cox, J.C.P. Roos OSSE – Open Source Registry Software Solution - Martin Lablans, Marita Muscholl, Tobias Hartz, Holger Storf, Thomas Wagner, Frank Ückert Characterization and classification of Rare Disease Registries by using exploratory data analyses - A. Coi, M. Santoro, M. Lipucci Di Paola, A. M. Bianucci, S. Gainotti, E. Mollo, L. Vittozzi, D. Taruscio, F. Bianchi National RD registry in Spain: Pilot study of the Spanish Rare Diseases Registries Research Network (SpainRDR) - V. Alonso, I. Abaitua, O. Zurriaga, J. Astray, M. Errezola, J.M. Aldana-Espinal, M.J. Margolles, J. Jiménez, J.A. Palomar, M. Santana, E. Ramalle-Gomarra, J.M. Ramos, F.E. Arribas, R. Álamo, G. Gutiérrez-Ávila, A. Galmés, M. García Ribes, C. Navarro, M.E. Ardanaz, M. Posada de la Paz Implementation of and first experiences with the Central Registry for Rare Diseases in Belgium – Elfriede Swinnen, Annelies Mallezie, Montse Urbina Paz, Viviane Van Casteren UK 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 Pleticha The RE(ACT) Initiative and the use of online communities to enhance research on rare diseases – Olivier Menzel e- enerca: New e-Health Services for the European Reference Network on Rare Anaemias – María del Mar Mañú Pereira, Laura Olaya Costa, Juan Luis Vives Corrons The TREAT-NMD Duchenne muscular dystrophy registries: conception, design and utilisation by industry and academia – Catherine L Bladen, The TREAT-NMD DMD registry group, Hanns Lochmuller Rare Diseases are Common – Ela Malarowska Needs for Information on rare diseases: the most used Orphanet services and products as an indicator - S.Maiella, A.Rath, M.Hanauer, B.Urbero, J.Christ & S.Aymé A review of the data collection features of international and national platforms for the registration of rare disease patients - D. Taruscio, P. Landais, M. Posada, H. Van Oyen, R. Stefanov, C. Steinmueller, R. Choquet, E. Swinnen, C. Zeidler, L. Vittozzi Spanish National Rare Disease Biobank (BioNER) – A. Villaverde-Hueso, I. Abaitua, V. Alonso, J. Alonso, G. Gómez-Mariano, B. Baladrón, A. Almansa, M. Posada de la Paz ECFSTracker: new software for the CF patient registry – Jacqui van Rens, Edward McKone on behalf of the European Cystic Fibrosis Society Patient Registry  Empowerment of rare diseases patient organisations by a searchable, crosslinking website - Marianne G. Nijnuis, Mariette H.E. Driessens, Ildikó Vajda, Silvia van Breukelen and Cor Oosterwijk, VSOP (Dutch genetic alliance) OrphanAnesthesia – Anesthesia recommendations for patients suffering from rare diseases – Tino Münster, Nina Schnabel Telethon Infoline: supporting patients through updated and useful information on genetic diseases - Alessia Daturi, Vera Bianchi, Barbara Gentilin The TREAT-NMD Care and Trial Site Registry: A Powerful Tool for Clinical research on Neurodegenerative and Neuromuscular Diseases – Kirsten König, Kathrin Gramsch, Adrian Tassoni, Sunil Rodger, Cathy Turner, Brigitte Paap, Thomas Klockgether, Volker Straub, Kate Bushby, Hanns Lochmüller, Janbernd Kirschner Unmet needs in the Rare Disease Community – Dianne Petrie, Catherine Spinks, Bronwyn Burgess TOSCA – An International Disease Registry for Tuberous Sclerosis Complex – Carla Fladrowski, Martha Feucht, Paolo Bruzzi, Tom Carter, Paolo Curatolo, Petrus J. de Vries,  Christoph Hertzberg, Anna Jansen, Sergiusz Jozwiak, Rima Nabbout, Finbar O’Callaghan, Matthias Sauter, Renaud Touraine, Sotirios Youroukos, Bernard Zonnenberg, Guillaume Beaure d’Augères, Elena Belousova, Vincent Cottin, Maria Dahlin, José Carlos Ferreira, Benedick Perkovic, Alfons Macaya, Valentin Sander, Stefania Crippa, Ramon Castellana, Bulent Ulker, J Chris Kingswood Targeting GPs For Hemochromatosis Awareness – EFAPH’s Contribution – Françoise Courtois, Emerência Teixeira, Pierre Brissot, Graça Porto, Barbara Butzeck Development of a register to record orofacial manifestations in patients with rare diseases – M. Hanisch, M. Dietz, P. Dirsch, K. Benz, M. Kleine, M. Ursic, J. Jackowski RD-Connect WP5 database and analysis coordination centers – José M. Fernández, Miguel Vázquez, Colin Kingswood, Steve Laurie, Sergi Beltrán, Víctor de la Torre, Ivo Gut, Alfonso Valencia A patient-initiated registry for Rare Diseases: the experience of the Greek Alliance for Rare Diseases (PESPA) – Gerassimos Voutsinas, Jan Traeger-Synodinos, Konstantinos Stardelis, Demetris Synodinos, Sotiris Youroukos, Marianna Lambrou, Drakoulis Yannoukakos Patients Associations promoting a novel participatory agreement of biobanking – Sara Casati, Maria Marcheselli, Renza Barbon Cystic Kidney Diseases in the framework of the Spanish population-based rare diseases registry (Spain-RDR) – Ana Clara Zoni, M Felicitas Domínguez Berjón, Jenaro Astray Mochales, Clara Laguna Berna, Federico Arribas, Laura Pruneda González , Mario Margolles Martins, Mercedes Caffaro Rovira, Antònia Galmés Truyols, Andrés Alvarado, Luis Miguel Ruíz Ceballos, Miguel García Ribes, Jesús Díaz Sánchez , Rufino Álamo Sanz, Roser Francisco Bordas, Pilar Magrinyà, Gemma Rovira, Josep Jiménez Villa, Alberto Amador Iscla, Oscar Zurriaga Llorens, Carmen Antonaya Rojas, Julián Mauro Ramos Aceitero, Marta Segura Aroca, Ana Belén Moreno López, Joaquín Palomar Rodríguez, Esther Vicente, Eva Ardanaz, Manuel Errezola Saizar, Elena Ruiz, Enrique Ramalle-Gomara, Manuel Posada, Josefa María Aldana Espinal, María del Amor Bueno Delgado, Aurora Megías Fernández, Antonio González-Meneses López, Laura Lahera Robles, Celia Salamanca Rivera, Reyes Sanz Amores, Félix Pradas Arnal, Yolanda Castán Ruíz, Ana Isabel Regalado Iturri, Natalia Enríquez Martín, Francisco Javier López Pisón, José Ramón Ara Callizo, Mª Concepción García Jiménez, Pilar Giraldo Castellano, Eusebi Castaño Riera, Ione Aguiar, Patricia Carrillo, Milagrosa Santana, Gonzalo Gutiérrez, Ricardo Ortega, Tomás Vega Alonso, Carmen Barona Vilar, Clara Cavero Carbonell, Rosana Guaita Calatrava, Miguel Ángel Martínez Beneito, Enrique Galán, M.de los Ángeles García Bazaga, Carmen Navarro, Cristina Vázquez-Santos, Teresa García, Enrique Barceló, María D Esteban Vasallo, Ignacio Abaitua, Ángela Almansa, Verónica Alonso, María José Carroquino, Patricia García Primo, Manuel Hens-Pérez, Antonio Morales-Piga, Ana Villaverde, Ruth Martínez The international umbrella organization NBIA Alliance and its mutual empowerment with the EU-FP7-funded collaborative project TIRCON – Angelika Klucken, Heike Jaskolka, Patricia Wood, Naveed Ali, Antonio Lopez, Alie Nagel, Fabrizia Scalise, Natale Scalise, Maayke Van Schijndel, Jean-Loup Vasseur, Florence Gauzy-Krieger, Susan Hayflick, Thomas Klopstock E-IMD and Ehod guidelines - A Chakrapani, MR Baumgartner, H Blom, C Dionisi-Vici, D Dobbelaere, M Groenendijk, J Haeberle, S Hannigan, M Huemer, S Kölker, V Kožich, H Meutgeert, AA Morris, S Parker An International Web-based Registry for Dysferlinopathy Involving Participation of Patients and their Doctors – Gaëlle Blandin, Laura Rufibach, Brigitta von Rekowski, Nicolas Lévy, Christophe Béroud, Martin Krahn Storytelling for Health – Emma Rooney OPTIMISTIC: Observational Prolonged Trial In Myotonic dystrophy type 1 to Improve Quality of Life- Standards, a Target Identification Collaboration – Libby Wood, Guillaume Bassez, Jeffrey Glennon, Arend Heerschap, Hans Knoop, Hanns Lochmüller, Darren Monckton, Benedikt Schoser , Mike Trenell, Shaun Treweek, Michael Catt, Grainne Gorman, , Sacha Bouman, Stephan Wenninger, Angela Schüller, Alette Wilting, Tom Heskes, Fiona Hogarth, Jennifer Williamson, Peter Donnan, Petra Rauchhaus, Erna Wilkie, Ameli Schwalber , Perry Groot, Roberta Littleford, Baziel Van Engelen  Motor Neuron Disease prevalence study based on the data from Spanish Network of Rare Diseases Registries - Andrés Alvarado García, Rubén Amorós Salvador, Jesús Sánchez Díaz, Mercedes Caffaro Rovira, Antònia Galmés-Truyols, Ana Belén Moreno López, Marta Segura Aroca, Joaquín Palomar Rodríguez, Manuel Errezola Sainar, Elena Ruiz, Enrique Ramalle-Gomara, Clara Laguna Bern, Federico Eduardo Arribas Monzón, Laura Pruneda González, Roser Francisco Bordas, Gemma Rovira Chumillas, Josep Jiménez Villa, Esther Vicente, Eva Ardanaz, Ana Clara Zoni, Jenaro Astray Mochales, Carmen Antonaya, Manuel Posada de la Paz An exploration into the internet and social support-mechanisms for families of children with Opsoclonu -Myoclonus (OMS), a rare neurological condition – Joanne Brazier Current Situation of Patients with Fragile X Syndrome: preliminary data from the EXLAIN FXS registry – Michael Colla, David Pittrow, Franziska Gaese, Michael Huss, Christoph Kretschmar, Helmut Peters, Marc Brinkman, Samuel Elstner, Frank Hässler E-IMD: A web-based European registry and network for intoxication type metabolic diseases (URL: https://www.eimd-registry.com) – S Kölker, D Dobbelaere, A Chakrapani , S Parker, P Burgard, J Haeberle, MR Baumgartner The Videotale ’Con Gli Occhi Tuoi’ (Through Your Eyes): An Alternative Method of Communication in Rare Diseases – Mirella Taranto, Andrea Manto, Amalia Egle Gentile, Marta De Santis, Agata Polizzi, Francesca Scapinelli, Laura Novelli, Tilde Iadeluca, Gabriella Sabbadini, Vera Puoti, Renza Barbon Galluppi, Massimo Aquili, Michela Corsi, Maria Grazia Corradini, Domenica Taruscio German Center for People with Restricted Growth – BKMF e.V. Development of a Patient-reported Outcome Measure for a Rare Disease: the Multicentric Castleman’s Disease-Symptom Scale – Corey Casper, Frits van Rhee, Helgi van de Velde, Ming Qi, Margaret Rothman, Kai Fai Ho, Sarah Fleming, Jessica Vermeulen UK Myotonic Dystrophy Patient Registry – Libby Wood, Antonio Atalaia, Ros Quinlivan, Richard Orrell, Richard Petty, Mark Roberts, Mark Rogers, Michael Rose, Cheryl Longman, Margaret Phillips, Darren Monckton, David Hilton-Jones, Chris Turner, Hanns Lochmüller Rare-Best Practices: A European Project Addressing Demands of Patients and Health Care Providers - Domenica Taruscio, Cristina Morciano, Paola Laricchiuta, Pierpaolo Mincarone, Fabio Palazzo, Carlo G. Leo, Saverio Sabina, Roberto Guarino, Joanne Auld, Thomas Sejersen, Desirée Gavhed, Karen Ritchie, Michele Hilton-Boon, Jan Manson, Panos G. Kanavos, David Tordrup,Victoria Tzouma, Yann Le Cam, Juliette Senecat, Graziella Filippini, Silvia Minozzi, Cinzia Del Giovane, Holger Schünemann, Joerg J. Meerpohl, Barbara Prediger, Lisa Schell, Rumen Stefanov, Georgi Iskrov, Tsonka Miteva-Katrandzhieva, Pedro Serrano-Aguilar, Lilisbeth Perestelo-Perez, Maria M. Trujillo-Martín, Jeanette Pérez-Ramos, Amado Rivero-Santana, Angela Brand, Henk van Kranen, Kate Bushby, Antonio Atalaia, Josè Ramet, Liesbeth Siderius, Manuel Posada, Ignacio Abaitua-Borda, Veronica Alonso Ferreira, Manuel Hens-Pérez, Francisco Javier Manzanares The Value of the Fabry Outcome Survey in Supporting the Fabry Disease Community in Identifying Scientific Publication Gaps – Jolien Schraver, Amandine Perrin, Maria Alvarez, Sylvain Larroque, Patrick Lebrun ZIPSE – comprehensive information portal about rare diseases in Germany – Tobias Hartz, Holger Storf, Martin Frank, Verena Lührs, Leena Bruckner-Tuderman, Jörg Schmidtke, Lisa Biehl, Thomas Wagner, Frank Ückert Thesaurus of Registry Terminology and Types - Thomas O.F. Wagner, Martin Lablans, Tobias Hartz, Georg Ückert, Sophie Buchberger, Tim Hirche, Stephen Lynn, Kate Bushby The Registry Project: A European Huntington’s disease Network longitudinal study of Huntington’s disease – Jenny Townhill on behalf of the Registry Steering Committee  The GRDR-GUID: a model for global sharing of patients de-identified data – Yaffa R. Rubinstein; Matthew McAuliffe; Manuel Posada; Domenica Taruscio; Stephen C. Groft Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases – Mirella Filocamo, Chiara Baldo, Stefano Goldwurm, Alessandra Renieri, Corrado Angelini, Maurizio Moggio, Marina Mora, Giuseppe Merla, Luisa Politano, Barbara Garavaglia, Lorena Casareto, Francesca Dagna Bricarelli and Telethon Network of Genetic Biobanks Staff (Corsolini F, Galotto S, Mazzotti R, Stroppiana G, Castagnetta M, Mogni M, Viotti V, Bonetti A, Felici F, Natuzzi F, Amabile S, Frullanti E, Meloni I, Fanin M, Nascimbeni A, Pegoraro E, Peterle E, Napoli L, Ripolone M, Sciacco M, Violano R, Canioni E, Gibertini S, Saredi S, Zanotti S, Fusco C, Micale L, Pellico MT, Zelante L, D’Ambrosio P, Picillo E, Taglia A, Barzaghi C, Panteghini C, Valletta L) A mapping study of the biomedical ontologies in the RD-Connect project framework– Estrella López, Verónica Alonso, Domenica Taruscio, Yaffa R. Rubinstein, Manuel Posada Systemic sclerosis in Asturias (Spain) in 1996-2012 period – Laura Pruneda, Eva García, Sara Mérida, Pedro Margolles, Marcial Argüelles, Mario Margolles Genetic and Rare Diseases Information Center: Eleven Years of Improving Access to Hard-to-Find Genetic and Rare Diseases Information and Resources – J. Lewis, M. Snyder, H. Hyatt-Knorr, V. Bonham Exploring rare disease epidemiology: results from a study in a lymphoproliferative disorder, multicentric Castleman’s disease – Don Robinson Jr, Christin Prutz, Corey Casper, Angela Dispenzieri, Jessica Vermeulen, Helgi van de Velde, Dana Teltsch, Marie-Pierre Desrosiers, Philip Rotella, Richard Swain, Matthew Reynolds The Results of a Satisfaction Survey on Orphanews Italia – R. Mingarelli, R. Ruotolo, S. Ciampa, M. Di Giacinto, ML. Dentici, E. Cocchiara, S. Festa, B. Dallapiccola Evidence-based patient information elaborated in cooperation with rare disease patient organisations -Frank Brunsmann, Svenja Siegert, Lisa Biehl, Corinna Schaefer  Alstrom Syndrome UK ‘Our Journey’ – ASUK & ASEU Founder and Director, Kay Parkinson and ASUK Office Manager, Catherine Lewis Epidermolysis Bullosa (EB) Handbook – A. Diem, K. Ude-Schoder, B. Sailer Juvenile Idiopathic/Rheumatoid Arthritis in Georgia: our experience - Ana Bokolishvili German data collection of expert services for rare diseases in the Orphanet database: state of the art 2013 - Mareike Derks, Kathrin Rommel, Elisabeth Nyoungui, Jörg Schmidtke E-HOD: Orphan Europe collaboration with a web-based European registry for homocystinuria reduces the burden on participants and streamlines the running of a registry – H Blom, V Kožich, M Huemer, S Parker, E Brachet, M Groenendijk, H Meutgeert, C Dionisi-Vici, AA Morris, S Hannigan, MR Baumgartner, S Kölker Approaches to improving data completeness in a global registry in the short term: experience in the Hunter Outcome Survey (HOS) – Maria Paabøl Larsen, Marcella Lynch, Isabelle Morin Pegasus, a winged horse carries hopes for rare diseases - Stefania Razeto, Marta De Santis, Mirella Taranto, Francesca Scapinelli, Paola De Castro, Domenica Taruscio Cri du chat syndrome: care recommendations for children and adults – Maria Elena Liverani, Marianna Spunton, Paola Cerruti Mainardi, Franca Dagna Bricarelli, Cesare Danesino, Andrea Guala Easy access to reliable information about rare diseases - The Swedish Information Centre for Rare Diseases Genzyme Rare Disease Registries – Impact of Global Site Operations Model on Standardization, Data Quantity and Compliance – Christiane Denzel, Kathleen Faherty, Marcel van Kuijck Knowledge Generation and Dissemination within the Scope of Rare Diseases: RareConnect and its Online Collaborative Patient-Centered Research Approach – Inge Roeniger The Patient’s Perspective on Rare Diseases Registries: evidence of associations with disease characteristics – Michele Santoro, Anna Kole, Francois Faurisson, Monica Ensini, Alessio Coi, Michele Lipucci, Luciano Vittozzi, Domenica Taruscio, Fabrizio Bianchi See the Light – Monika König, Marion Pelz UK Consensus Document for 22q11 Deletion Syndrome – Hilary Joyce, Julie Wootton, Richard Herriot Theme 3: Research from Discovery to Patients Prenatal therapy in developmental disorders: drug targeting via intra-amniotic injection to treat X-linked hypohidrotic ectodermal dysplasia – Katharina Hermes,Pascal Schneider, Peter Krieg, AnhThu Dang, Kenneth Huttner, Holm Schneider Neuromics: -omics research for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases – an EU funded FP7 project – Volker Straub, Cathy Turner, Annemieke Aartsma-Rus, Alexis Brice, Kate Bushby, Elena Cattaneo, Bruno Corman, Alexandra Durr, Alessandra Ferlini, Holm Graessner, Birte Zurek, Mike Hanna, Henk-Jan Joosten, Jan Kirschner1, Thomas Klockgether, Nigel Laing, Nicolas Levy, Hanns Lochmüller, Olafur Magnusson, Francesco Muntoni, Fredrik Roos, David Rubinsztein, Ludger Schöls, Elena Schwartz, Hreinn Stefansson, Sarah Tabrizi, Vincent Timmerman, Brunhilde Wirth, Gert-Jan van Ommen, Olaf Riess Lack of Current Clinical Research in Areas Very Relevant to Patients and Clinicians in Dystrophic Epidermolysis Bullosa – Paula Dávila-Seijo, Ignacio García-Doval, Ángela Hernández Martín, Evanina Morcillo-Makow Orphanet services to the research community – V.Hivert, A.Rath, A Olry, C. Gonthier, N. Marpillat, M-P. Bécas-Garro, S. Peixoto, B. Belloir, C. Gueydan, M. Hanauer, B. Urbero, S. Aymé Diagnosing hereditary ataxias and paraplegias using a Next-Generation-Sequencing panel – Peter Bauer, Martin Schulze, Marc Sturm, Florian Harmuth, Matthis Synofzik, Olaf Riess, Ludger Schöls Congenital and Cyclic Neutropenia with ELANE Mutations: Genotype-Phenotype Correlation – Cornelia Zeidler, Ulrike Grote, Anna Nickel, Sabine Mellor-Heineke, Julia Skokowa, Karl Welte Biopontis Alliance Rare Disease Foundation (BARD): an innovative model for early stage rare disease therapy financing and development – Barbara Handelin, Richard Basile, Erik Tambuyzer, Marlene Haffner Research 4 Rare – Together toward Diagnosis and Treatment - Christoph Klein, Lydia Wiesböck, Katja Franke-Rupp Exome sequencing as diagnostic tool for rare diseases – Henk van Kranen, Angela Brand The TREAT-NMD advisory committee for therapeutics (TACT): facilitating development of treatments for rare neuromuscular diseases – Kate Bushby, Volker Straub, Louise Johnston and Agata Robertson and Dominic Wells, on behalf of TACT Effect of Alpha-Melantropin on peripheral blood mononuclear cells from Chronic Beryllium Disease patients and healthy control subjects – Dorian Bevec, Gerd Burmeister, Lisa Maier Orphan Drug for Acanthamoeba Keratitis (ODAK) - Christina Olsen, Ritchie Head, Vincenzo Papa, Cherry Radford, Paolo Rama, John Dart, Antonino Asero Searching for active molecules in rare diseases: the paradigm of ω-3 polyunsaturated fatty acids (ω-3 PUFAs) in Rett syndrome – Alessio Cortelazzo, Claudio De Felice, Cinzia Signorini, Roberto Guerranti, Silvia Leoncini, Alessandra Pecorelli, Thierry Durand, Jean-Marie Galano, Camille Oger, Gloria Zollo, Barbara Montomoli, Claudia Landi, Luca Bini, Giuseppe Valacchi, Lucia Ciccoli, Joussef Hayek Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): Results of a dose-response study of once daily nitisinone on 24-hour urinary homogentisic acid excretion in patients with alkaptonuria – Anthony K Hall, Lakshminarayan R Ranganath, Anna Milan, Andrew Hughes, Birgitta Olsson, Johan Szamosi, Eftychia P Psarelli, Trevor Cox, James A Gallagher, Jonathan C Jarvis, Christa van Kan, Nicolas Sireau, Andrea Zatkova, Kim-Hanh Le Quan Sang, Federica Genovese, Daniela Braconi, Annalisa Santucci, Richard Imrich, Jozef Rovensky, Hana Ayoob The French Foundation for rare diseases: a unique cooperative framework coordinating research resources and expertise in the rare diseases field – Roseline Favresse, Regional Coordinator, in charge of EU/international Affairs, the French Foundation for rare diseases RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research - Rachel Thompson, Ivo Gut, Kate Bushby, Emma Heslop, Louise Johnston, Domenica Taruscio, Lucia Monaco, Christophe Beroud, Mats Hansson and Hanns Lochmüller on behalf of RD-Connect Supporting the International Rare Diseases Research Consortium: achievements and challenges – P Lasko, B Cagniard, S Höhn, S Peixoto, V Hivert, S Aymé and the IRDiRC consortium  Analysis of how research funding is allocated to a wide variety of projects on rare diseases: a case study – Eszter Balczar, Akinsolu Folahanmi Tomiwa, Nora Kovacs, Orsolya Varga Beta-sarcoglycanopathy: any longer an “orphan” disease? - Beatrice Vola, Roberto Maggi, Massimiliano Cerletti Theme 4: State of the Art and Innovative Practices in Orphan Products IDEAL – Integrated Design and Analysis of Small Population Group Trials – Ralf-Dieter Hilgers, Holger Dette, Franz König, France Mentré, Stephen Senn, Mats Karlsson, Malgorzata Bogdan, Carl-Fredrik Burman, Geert Molenberghs, Christoph Male The Therapy Research Centre for Rare Diseases Tübingen – boosting therapeutic trials in rare diseases through a dedicated infrastructure - Christine Jägle, Joachim Riethmüller, Olaf Riess, Holm Graessner Findacure: a charity with the mission to build a movement to promote the search and development of treatments for fundamental diseases on behalf of patients and those who care for them – Nicolas T. Sireau, Flóra Raffai, Anthony K Hall Results from the First Randomised Study in Multicentric Castleman’s Disease, a Rare Lymphoproliferative Disorder: a Multicentre, Randomised, Double-Blind, Placebo-Controlled Study of Siltuximab, an Anti-Interleukin-6 Monoclonal Antibody– Frits van Rhee, Raymond S. Wong, Nikhil Munshi, Jean-Francois Rossi, Xiaoyan Ke, Alexander Fosså, David Simpson, Marcelo Capra, Ting Liu, Ruey Kuen Hsieh, Yeow Tee Goh, Jun Zhu, Seok-Goo Cho, Hanyun Ren, James Cavet, Rajesh Bandekar, Margaret Rothman, Thomas A. Puchalski, Manjula Reddy, Helgi van de Velde, Jessica Vermeulen, Corey Casper Evaluation of Highly Specialised Technologies for very rare diseases in England – Fiona Pearce and Josie Godfrey Adverse drug reactions of the orphan medicinal products from ATC class A16 intended for treatment of inborn metabolic lysosomal diseases - T. Foltánová, M. Korčeková, V. Kákošová, A. Mareková, K. Hlavatá, A. Hlavatá, L. Kovács Theme 5: Emerging Concepts & Future Policies for Rare Disease Therapies ADCETRIS as a model of Adaptive Licensing – Daniela Settesoldi, Luisa Anna Adele Muscolo, Luca Pani and Paolo D. Siviero Shining a light in the black box of orphan drug pricing – Eline Picavet, Thomas Morel, David Cassiman, Steven Simoens Building an orphan drug market database to empower decision making by patient organizations and pharma-biotech companies – Philippe Gorry Multi-criteria Decision Analysis (MCDA): Testing a proposed MCDA  framework for Orphan Drugs – Schey C, Connolly M. Graph theory enables drug repurposing – How a mathematical model can drive the discovery of hidden Mechanisms of Action – Dorian Bevec, Stefano Giorgetti, Massimo Barbiani, T. Di Matteo, Tomaso Aste, Ruggero Gramatica Assessing the relationship between individual attributes identified in review of multi-criteria decision analysis (MCDA) and annual treatment costs in rare endocrine disorders – Schey C, Irvin J, Teneishvili M, Krabbe P, Connolly M. Mexiletine : pharmaco – epidemiological study – G Santoni, F Capozzoli, F Paoli, P Torreri, C Borzacchiello, C Frank Patient-Reported Outcome (Pro) Claims in Products Indicated for the Treatment of Rare Diseases and Approved by the European Medicines Agency (EMA) - Benoit Arnould, Laure-Lou Perrier, Catherine Acquadro An assessment of orphan drug success rates in US and Europe – Adam Hutchings, Richard Dutton, Carina Schey Orphan medicines survey of sponsors – C.Paganin, S.Mariz, L.Fregonese, S.Aarum, J.llinares, B.Sepodes, S.Tsigkos Parallel Submissions for Orphan Designation with the FDA, EMA and MHLW/PMDA – Gayatri Rao, Motoko Honda, Harumasa Nakamura, L.Fregonese, S.Aarum, J.llinares, S.Tsigkos, B.Sepodes, S.Mariz Theme 6: Beyond Medical Care Integration of Rare Diseases into Social Services – R. Castro, D. Dan Social-Economic Burden and Health-Related Quality of LIfe with Patients with Rare Diseases in Europe(BURQOL-RD) - Renata Linertová, Julio López-Bastida, Pedro Serrano-Aguilar, Manuel Posada, Domenica Taruscio, Yllka Kodra, Arrigo Schieppati, Rumen Stefanov, Panos Kanavos, László Gulácsi, Claudia Delgado, Johann-Matthias Graf von der Schulenburg, Ulf Persson, Karine Chevreul, Giovanni Fattore Serious Fun Children’s Network volunteering programme & Orphan Europe Recordati Group partnership to support life-chagning experiences for children with serious medical conditions - Eszter Lencses, Terry Dignan  E-learning Course for Norwegian Caregivers – Gro Trae Strengthening education – Alba Ancochea The role of research in understanding the psychosocial needs of families affected by serious illness and innovative programme responses – Caroline Stott,Suzanne Guerin Romanian Prader Willi Association – a model for approaching rare diseases in Romania – Dorica Dan, Maria Puiu Wing Test Project – independent living camps for Williams Syndrome youth – Beáta Boncz, Krisztina Pogány,  Katalin Heiszer, Ágnes Várhelyiné Monostori, Zsuzsanna Pogányné Bojtor  New Trends in Psychological Support Service – Alba Ancochea, Isabel Motero, Mamen Almazan Need to Integrate Different Information Systems to Ameliorate Quality of Care in Persons with Rare Diseases – Agata Polizzi, Marta De Santis, Amalia Egle Gentile, Antonella Sanseverino, Manuela Latrofa, Flavia Villani, Carlo Donati, Rosa Giuseppa Frazzica, Domenica Taruscio School- starters with a rare disorder – a model for supplying information to school personnel in Norway – Susan Sødal, Synne Heivang Giving a Voice to Parents: Experience of Caring for Children, Adolescents and Young Adults with Mucopolysaccharidoses (MPS) – Suja Somanadhan The healing power of being together - Velia Maria Lapadula, Giulia Mariani DebRA Slovakia and its experience with Specialised Social Services in Epidermolysis bullosa – Ramljaková B., Foltánová T., Martinásková K., Péč J. Everyday consequences of rare diseases – AnnCatrin Röjvik, Gunilla Jaeger , Britta Berglund Chromosomal Disorders. Developing a design for a multidisciplinary study of Norwegian patients with Kleefstra syndrome and Wolf-Hirschhorn syndrome – Lise B. Hoxmark, Heidi E. Nag, David K. Bergsaker, Bente S. Hunn, Susanne Schmidt Change of Emotional Perspective in Prader-Willi Syndrome (PWS) – Norbert Hoedebeck-Stuntebeck Theme 7: Rare Disease Patient Groups Innovations A Survey of Member Patient Organisations’ Activities, Healthcare Environments and Concerns – Irena Žnidar, Tanya Collin-Histed, Pascal Niemeyer, Johanna Parkkinen, Anne-Grethe Lauridsen, Sandra Zariņa, Yossi Cohen, Jeremy Manuel Web-based learning to support patient advocacy in rare diseases: The European Patient Ambassador Programme – S. Masefield, N. Cassidy, P. Powell  Promote Therapeutic Patient Education for rare diseases in France – Marie-Pierre Bichet, Paul Gimenes Creating a European Chromosome 18 Clinical Research Network – Alistair McLauchlan, Bonnie McKerracher, Apostolis Ritsos, Jannine D. Cody A Project to Take Forward the Next Generation of Leaders Nationally and Internationally – Anne-Grethe Lauridsen, Joanne Cook, Radoslava Tomova, Johanna Parkkinen A Funding Program for the assistance, the autonomy and the social integration of the people affected by Alternating Hemiplegia of Childhood (AHC) in Italy, and for the empowerment of their families – Rosaria Vavassori, Nicolò Bona, Denise Previtali Integrating personalized medicine into patient organizations’ tasks: a workshop with moral deliberation – Stephanie S. Weinreich, Elisabeth Martens, Bert Molewijk Fibrodysplasia Ossificans Progressiva (FOP). The challenges of an extremly rare disease – Moira Liljesthröm, Chris Bedford Gay, Roger Zum Felde, Irene Snijder Diffusion as a Validation Process: Learning from Patient – Tomas Fidelis, Leid Zejnilovia, Pedro Oliveira Theme 8: National Plans Evolution of national and European policies in the field of rare diseases and their impact over the past four years – Charlotte Rodwell, Ségolène Aymé Selecting Core Indicators for National Plans According to the Delphi Technique – Marta De Santis, Amalia Egle Gentile, Rita Maria Ferrelli, Manuel Posada De La Paz, Luciano Vittozzi, Rosa Giuseppa Frazzica, Agata Polizzi, Domenica Taruscio Rare disease patient organisations’ opinions about the implementation of the national plan in Finland: a survey – The Finnish Network for Rare Diseases German National Plan of Action for People with Rare Diseases – Miriam Schlangen, Katharina Heuing Strengths and Weaknesses in Developing National Plans for Rare Diseases: Results of a Europlan Survey – Rita Maria Ferrelli, Marta De Santis, Giuseppa Rosa Frazzica, Amalia Egle Gentile, Domenica Taruscio The role of Patient Organisations in the creation of the Hungarian National Plan for Rare Diseases – Gábor Pogány, Helga Süli-Vargha, Judit Váradiné Csapó, Katalin Brunner National Conferences in the frame of the EUROPLAN project in post-Soviet countries – Oleg Kvlividze The Italian National Centre for Rare Disease: A Scientific, Innovative, Integrated and Human Approach to Rare Diseases – Domenica Taruscio, Rosa Giuseppa Frazzica and the National Centre for Rare Diseases Researchers Theme 9: Other/open topic  VEMSE-CF – A Prospective Controlled Care-Research Study Investigating the Effects of a Comprehensive Psycho-Social Intervention – Andreas Reimann, Lutz Goldbeck, Helge Hebestreit, Hans-Eberhard Heuer, Sibylle Junge, Brigitte Sens, Christina Smaczny, J.-Matthias v. d. Schulenburg, and the VEMSE-CF study team Genetic Analysis of Mucopolysaccharidoses in Russia – Dimitry A. Chistiakov, Kirill V. Savost’anov, Lyudmila M. Kuzenkova, Anait K. Gevorkyan, Alexander A. Pushkov, Alexey G. Nikitin, Nato D. Vashakmadze, Natalia V. Zhurkova, Tatiana V. Podkletnova, Leila S. Namazova-Baranova, Alexander A. Baranov Are there differences between people with Prader-Willi Syndrome (PWS) and healthy controls in heart rate variability parameters in response to eating-related pictures? – Hubert Soyer, Svetlana Labun, Arne Wittling, Elisabeth Schweiger The Porphyrias In Southern Italy: Clinical, Therapeutic and Social Care Aspects – Claudio C. Guida,  Maria Savino, Maria Garrubba, Annabella Di Giorgio, Maria Placentino, Adelaide Potenza, Lazzaro di Mauro, Filippo Aucella Intravenous Neridronate in Patients with Osteogenesis Imperfecta – Ombretta Viapiana, Davide Gatti, Maurizio Rossini, Elena Fracassi, Sonila Troplini, Ilaria Piazza, Giovanni Orsolini, Luca Idolazzi, Silvano Adami Preclinical studies: research discoveries to find a cure – Alba Di Pardo, Vittorio Maglione, Mariagrazia Favellato, Enrico Amico and Ferdinando Squitieri APMAR (Italian non-profit association of People with Rheumatic Diseases): supporting rheumatic diseases’ patients - APMAR volunteer Physical Activity and Walking Capacity in Persons with Down Syndrome, Williams syndrome and Prader-Willi syndrome – Marianne Nordstrøm, Bjørge Herman Hansen, Benedicte Paus, Svein Olav Kolset EUCERD Joint Action – Working for Rare Diseases: Goals and Achievements – Victoria Hedley, Stephen Lynn, Teresinha Evangelista, Antonio Atalaia, Kate Bushby STEPS-2, a 2-Year, Multicenter, Open-Label Clinical Trial: Safety and Efficacy of Long-Term Teduglutide 0.05-mg/kg/day Treatment of Adults With Intestinal Failure Associated With Short Bowel Syndrome (SBS–IF) – Simon M. Gabe, Palle B. Jeppesen, Ulrich-Frank Pape, Nader N. Youssef The unique difficulties of rare disease patients to access health and social care in Europe and the role of early diagnosis: the case of Prader-Willi Syndrome (PWS) – S.K Manolias, K. Politis, H. Frysira Cronic Fatigue and Multiple Chemical Sensitivity in Spain: discrimation and violation the human right to privacy – Daniel B. Entrena Ruiz Women with EDS experience low oral health-related quality of life – Britta Berglund, Erik Björck Hungarian Haemophilia Society – Gabor Varga Sirolimus treatment for renal angyomiolipomas and cysts in patients with Tuberous Sclerosis - Giacomo di Zazzo, Gianluca Bergami Hungarian Association of People with Retinoblastoma – Ivett Kovacs Nemes An isolated case report of Klippel-Feil syndrome: an acute pathology? – Rim Frikha, Nouha Bouayed Abdelmoula, Salima daoud and Tarek Rebai Recent Trends and Strategies for Rare Disease Management in India – Bejon Misra