Volume 5 Supplement 1

5th European Conference on Rare Diseases (ECRD 2010)

Meeting abstracts

Edited by Joseph Torrent i Farnell, Torben Grønnebaek and François Houÿez

5th European Conference on Rare Diseases (ECRD 2010). Go to conference site.

Krakow, Poland13-15 May 2010

Concatenated PDF 5S1

Page 1 of 2

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
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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
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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
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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
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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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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
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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
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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
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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
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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
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Very rare disorders - organisation of care

Authors: Raoul CM Hennekam

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O11

Content type: Oral presentation

Published on: 19 October 2010
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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
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Advancing diagnosis, care and treatment for people with neuromuscular diseases around the world: a network of excellence to catalyse research infrastructure globally

Authors: Kate Bushby

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O13

Content type: Oral presentation

Published on: 19 October 2010
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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
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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
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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
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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
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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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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
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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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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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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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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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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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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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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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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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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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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 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 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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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
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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
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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
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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
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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
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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
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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
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How a motivation programme can affect complex treatment compliance in a rare disease? Results of a questionnaire-based, self-reported study to evaluate “Life Club CF”, a programme intended for patients with cystic fibrosis

Authors: Marcin Mikos, Mikolaj Krzyzanowski, Wojciech Cichy, Pawel Wojtowicz and Anna Sandurska

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P7

Content type: Poster presentation

Published on: 19 October 2010
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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
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Living with OI = Osteogenesis imperfecta = brittle bone disease

Authors: Ute Wallentin

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P9

Content type: Poster presentation

Published on: 19 October 2010
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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
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Orphandev, French Clinical Trials Network dedicated to Orphan drugs and therapeutics development for rare diseases

Authors: Yolande Adjibi, Joëlle Micallef and Olivier Blin

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P11

Content type: Poster presentation

Published on: 19 October 2010
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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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E-learning for carers

Authors: Olga Solberg, Jeanette Ullmann Miller, Synne Heivang and Mads Bjerke

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P13

Content type: Poster presentation

Published on: 19 October 2010
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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
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Abilities of development support in children with genetic syndromes. Experiences from annual integrational meetings

Authors: Alina T Midro, Olga Haus, Krystyna Kobel-Buys, Jolanta Wierzba and Stanisław Zajączek

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P15

Content type: Poster presentation

Published on: 19 October 2010
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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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Aging among persons with invisible disorders: the importance of patient organisations

Authors: Vigdis Hegna Myrvang and Kirsten Thorsen

Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P17

Content type: Poster 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
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5th European Conference on Rare Diseases (ECRD 2010)

Meeting abstracts

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