Articles

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Patient involvement and empowerment through the NPRD (Eastern Europe)

Authors: Dorica Dan

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O32

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Cross-border health care represents a key issue in the field of rare diseases

Authors: Paola Facchin

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O31

Content type: Oral presentation Published on: 19 October 2010

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The present situation of Rare Diseases in Central/Eastern Europe? The role of patient organisations

Authors: Gabor Pogany

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O30

Content type: Oral presentation Published on: 19 October 2010

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Cross-border healthcare? The Polish experience

Authors: Jolanta Sykut-Cegielska

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O29

Content type: Oral presentation Published on: 19 October 2010

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The European Union Committee of Experts on Rare Diseases (EUCERD): a new committee to help the European Commission advance in the field of rare disease policy

Authors: Antoni Montserrat Moliner and Ségolène Aymé

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O28

Content type: Oral presentation Published on: 19 October 2010

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Issues of management of Epidermolysis bullosa in Georgia

Authors: Oleg Kvlividze, Tamar Chigladze, George Tvaliashvili and George Galdava

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P28

Content type: Poster presentation Published on: 19 October 2010

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The Swedish rare disease information database and the Swedish information centre for rare diseases

Authors: Christina Greek-Winald, Birgitta Gustafsson and Lisbeth Högvik

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O27

Content type: Oral presentation Published on: 19 October 2010

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APTIC: a social network to improve the quality of life of members of patients' associations

Authors: Manuel Armayones, Eulàlia Hernández-Encuentra, Beni Gómez-Zúñiga, Noemí Guillamon, Gerardo Ontiveros, Ana Bosque and Begonya Nafría

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P27

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Medical education: the role of patients

Authors: Christel Nourissier

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O26

Content type: Oral presentation Published on: 19 October 2010

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Evaluation of population newborn screening practices for rare disorders in member states of the European Union

Authors: Luciano Vittozzi, Georg F Hoffmann, Martina Cornel and Gerard Loeber

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P26

Content type: Poster presentation Published on: 19 October 2010

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Contribution of rare disease patient organisations to medical education

Authors: Rainald von Gizycki

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O25

Content type: Oral presentation Published on: 19 October 2010

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New functionalities in Orphanet for orphan drugs, R&D and marketing authorisations to better serve the rare diseases community

Authors: Virginie Hivert, Natalia Martin, Marc Hanauer and Ségolène Aymé

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P25

Content type: Poster presentation Published on: 19 October 2010

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EMP's first steps in the field of clinical trials

Authors: Greetje Goossens

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O24

Content type: Oral presentation Published on: 19 October 2010

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The patients’ organisations of children with primary immunodeficiency in Poland

Authors: Ewa Bernatowska, Malgorzata Pac and Dorota Marynowicz

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P24

Content type: Poster presentation Published on: 19 October 2010

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Ageing in rare, chronic diseases

Authors: Cees Smit

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O23

Content type: Oral presentation Published on: 19 October 2010

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Psychological aspects of living with rare disease: development of psychological skills of rare disease patients. How to improve patients’ quality of life by developing psychological skills necessary to cope with the disease

Authors: Yolanta Wierzba, Joanna Jaglowska and Emilia G Suszka

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P23

Content type: Poster presentation Published on: 19 October 2010

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Scope and management of Patient Registries for orphan rare disease (ORD) meeting the demands of all involved stakeholders

Authors: Elizabeth Hernberg-Ståhl

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O22

Content type: Oral presentation Published on: 19 October 2010

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International registry: genetic and phenotypic characteristics of a heterogenous group of disorders

Authors: Cornelia Zeidler, Gusal Pracht, Manuela Germeshausen and Karl Welte

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P22

Content type: Poster presentation Published on: 19 October 2010

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Classification of rare diseases: a worldwide effort to contribute to the International Classification of Diseases

Authors: Ana Rath, Ségolène Aymé and Bertrand Bellet

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O21

Content type: Oral presentation Published on: 19 October 2010

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Comparative demographics of the European Cystic Fibrosis population: does EU membership confer an advantage?

Authors: Anil Mehta, Jonathan McCormick and Milan Macek Jr

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O20

Content type: Oral presentation Published on: 19 October 2010

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DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes

Authors: Pam Griffiths, Kate Strong, Sara Gardner, Ruth Day, Caroline Harrison, Kerr Bronwyn, Kay Metcalfe, Han Brunner, Dian Donnai, Bruno Dallapiccola, Koenraad Devriendt, Malgorzata Krajewska-Walasek, Nicole Philip and Jill Clayton-Smith

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P20

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Cross-border genetic testing

Authors: David Barton

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O19

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Predictors of orphan drug approval

Authors: Harald Heemstra

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O18

Content type: Oral presentation Published on: 19 October 2010

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Evidence-based information guides to rare chromosome disorders for families and professionals

Authors: Beverly Searle, Prisca Middlemiss, Sarah Wynn and Maj Hulten

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P18

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Health technology assessment: oncology drugs with orphan designation as an example

Authors: Claudia Wild

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O17

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Determinants for research on rare diseases

Authors: Francesc Palau

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O16

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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European Porphyria Network (EPNET) for information, epidemiological data, quality and equity of service

Authors: Jean-Charles Deybach, Samantha Parker, Mike Badmiton and Sverre Sandberg

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P16

Content type: Poster presentation Published on: 19 October 2010

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The European research area network – E-Rare

Authors: Sophie Koutouzov

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O15

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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DYSCERNE: a European Network of Centres of Expertise for Dysmorphology

Authors: Krystyna Chrzanowska, Jill Clayton-Smith, Ruth Day and Pamela Griffiths

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O14

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Social profiles - a dialogue tool

Authors: Lene Jensen and Birthe Byskov Holm

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P14

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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The Epidermolysis bullosa house in Salzburg

Authors: Gabriela Pohla-Gubo

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O12

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Registry of Outcome Measures (ROM); tools supporting review and selection of outcome measures (OMs) for studies and trials

Authors: Joanne Auld, Michael Rose and Reza Seyedsadjadi

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P12

Content type: Poster presentation Published on: 19 October 2010

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A "Family Project" to fight Usher, a rare disease leading to deaf-blindness

Authors: Steffen Suchert

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O10

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Primary Immunodeficiencies (PID): driving diagnosis for optimal care in Europe

Authors: Marta Czerniawska and Fred Modell

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P10

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Living with Progeria

Authors: Marjet Stamsnijder

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O9

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Cell therapies for Duchenne muscular dystrophy: some ethical issues for personalised medicines

Authors: Pauline McCormack

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P8

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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The impact of a small parental network: how 11q improved research, knowledge, contacts and support

Authors: Annet van Betuw

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O8

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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French experience with rare diseases plans

Authors: Guillaume Le Henanff and Gil Tchernia

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O7

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Cystic Fibrosis in Europe - remote measurement of outcome

Authors: Anil Mehta, Gita Mehta and Milan Macek

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P6

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Building centres of expertise according to the Dutch model?

Authors: Fons JM Gabreëls and Jolanda S Huizer

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O6

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Rare diseases research in Europe: an overview based on data from the Orphanet database

Authors: Natalia Martin, Nicolas Doulet, Virginie Hivert and Ségolène Aymé

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P5

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Individual plans and coordinated services: an empowering process

Authors: Stein Are Aksnes

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O5

Content type: Oral presentation Published on: 19 October 2010

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Genetic testing in Europe: transborder testing is a necessity

Authors: Mariana Jovanovic, Els Dequeker, Lieve Desmet, Michael Morris, Jean-Jacques Cassiman and Ségolène Aymé

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P4

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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The added value of centres of expertise for rare disease patients in Europe

Authors: Anna A Kole and Yann le Cam

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O4

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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EURORDIS Summer School for patient advocates in clinical trials and drug development

Authors: Maria Mavris and Fabrizia Bignami

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P3

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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Recommendations for the development of national plans for rare diseases

Authors: Albert Van der Zeijden and Jolanda Huizer

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O3

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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European Project for Rare Diseases National Plans Development (EUROPLAN)

Authors: Domenica Taruscio and Luciano Vittozzi

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P2

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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State of the art of services in Europe: where are the problems?

Authors: Ségolène Aymé

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O2

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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WHO International Classification of Diseases (ICD) Revision Process: incorporating rare diseases into the classification scheme: state of art

Authors: Ségolène Aymé, Ana Rath and Bertrand Bellet

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P1

Content type: Poster presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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The German plan for rare diseases: a development in progress

Authors: Johann Mathias Graf von der Schulenburg

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O1

Content type: Oral presentation Published on: 19 October 2010

This article is part of a Supplement: Volume 5 Supplement 1
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