Volume 5, supplement issue 1, October 2010

5th European Conference on Rare Diseases (ECRD 2010)

Issue editors

Joseph Torrent i Farnell
Torben Grønnebaek
François Houÿez

60 articles in this issue

The German plan for rare diseases: a development in progress

Authors
- Johann Mathias Graf von der Schulenburg
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O1
State of the art of services in Europe: where are the problems?

Authors
- Ségolène Aymé
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O2
Recommendations for the development of national plans for rare diseases

Authors
- Albert Van der Zeijden
- Jolanda Huizer
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O3
The added value of centres of expertise for rare disease patients in Europe

Authors
- Anna A Kole
- Yann le Cam
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O4
Individual plans and coordinated services: an empowering process

Authors
- Stein Are Aksnes
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O5
Building centres of expertise according to the Dutch model?

Authors
- Fons JM Gabreëls
- Jolanda S Huizer
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O6
French experience with rare diseases plans

Authors
- Guillaume Le Henanff
- Gil Tchernia
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O7
The impact of a small parental network: how 11q improved research, knowledge, contacts and support

Authors
- Annet van Betuw
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O8
Living with Progeria

Authors
- Marjet Stamsnijder
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O9
A "Family Project" to fight Usher, a rare disease leading to deaf-blindness

Authors
- Steffen Suchert
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O10
Very rare disorders - organisation of care

Authors
- Raoul CM Hennekam
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O11
The Epidermolysis bullosa house in Salzburg

Authors
- Gabriela Pohla-Gubo
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O12
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
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O13
DYSCERNE: a European Network of Centres of Expertise for Dysmorphology

Authors (first, second and last of 4)
- Krystyna Chrzanowska
- Jill Clayton-Smith
- Pamela Griffiths
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O14
The European research area network – E-Rare

Authors
- Sophie Koutouzov
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O15
Determinants for research on rare diseases

Authors
- Francesc Palau
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O16
Health technology assessment: oncology drugs with orphan designation as an example

Authors
- Claudia Wild
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O17
Predictors of orphan drug approval

Authors
- Harald Heemstra
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O18
Cross-border genetic testing

Authors
- David Barton
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O19
Comparative demographics of the European Cystic Fibrosis population: does EU membership confer an advantage?

Authors
- Anil Mehta
- Jonathan McCormick
- Milan Macek Jr
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O20
Classification of rare diseases: a worldwide effort to contribute to the International Classification of Diseases

Authors
- Ana Rath
- Ségolène Aymé
- Bertrand Bellet
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O21
Scope and management of Patient Registries for orphan rare disease (ORD) meeting the demands of all involved stakeholders

Authors
- Elizabeth Hernberg-Ståhl
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O22
Ageing in rare, chronic diseases

Authors
- Cees Smit
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O23
EMP's first steps in the field of clinical trials

Authors
- Greetje Goossens
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O24
Contribution of rare disease patient organisations to medical education

Authors
- Rainald von Gizycki
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O25
Medical education: the role of patients

Authors
- Christel Nourissier
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O26
The Swedish rare disease information database and the Swedish information centre for rare diseases

Authors
- Christina Greek-Winald
- Birgitta Gustafsson
- Lisbeth Högvik
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O27
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
- Ségolène Aymé
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O28
Cross-border healthcare? The Polish experience

Authors
- Jolanta Sykut-Cegielska
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O29
The present situation of Rare Diseases in Central/Eastern Europe? The role of patient organisations

Authors
- Gabor Pogany
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O30
Cross-border health care represents a key issue in the field of rare diseases

Authors
- Paola Facchin
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O31
Patient involvement and empowerment through the NPRD (Eastern Europe)

Authors
- Dorica Dan
- Content type: Oral presentation
- Open Access
- Published: 19 October 2010
- Article: O32
WHO International Classification of Diseases (ICD) Revision Process: incorporating rare diseases into the classification scheme: state of art

Authors
- Ségolène Aymé
- Ana Rath
- Bertrand Bellet
- Content type: Poster presentation
- Open Access
- Published: 19 October 2010
- Article: P1
European Project for Rare Diseases National Plans Development (EUROPLAN)

Authors
- Domenica Taruscio
- Luciano Vittozzi
- Content type: Poster presentation
- Open Access
- Published: 19 October 2010
- Article: P2
EURORDIS Summer School for patient advocates in clinical trials and drug development

Authors
- Maria Mavris
- Fabrizia Bignami
- Content type: Poster presentation
- Open Access
- Published: 19 October 2010
- Article: P3
Genetic testing in Europe: transborder testing is a necessity

Authors (first, second and last of 6)
- Mariana Jovanovic
- Els Dequeker
- Ségolène Aymé
- Content type: Poster presentation
- Open Access
- Published: 19 October 2010
- Article: P4
Rare diseases research in Europe: an overview based on data from the Orphanet database

Authors (first, second and last of 4)
- Natalia Martin
- Nicolas Doulet
- Ségolène Aymé
- Content type: Poster presentation
- Open Access
- Published: 19 October 2010
- Article: P5
Cystic Fibrosis in Europe - remote measurement of outcome

Authors
- Anil Mehta
- Gita Mehta
- Milan Macek
- Content type: Poster presentation
- Open Access
- Published: 19 October 2010
- Article: P6
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 (first, second and last of 5)
- Marcin Mikos
- Mikolaj Krzyzanowski
- Anna Sandurska
- Content type: Poster presentation
- Open Access
- Published: 19 October 2010
- Article: P7
Cell therapies for Duchenne muscular dystrophy: some ethical issues for personalised medicines

Authors
- Pauline McCormack
- Content type: Poster presentation
- Open Access
- Published: 19 October 2010
- Article: P8
Living with OI = Osteogenesis imperfecta = brittle bone disease

Authors
- Ute Wallentin
- Content type: Poster presentation
- Open Access
- Published: 19 October 2010
- Article: P9
Primary Immunodeficiencies (PID): driving diagnosis for optimal care in Europe

Authors
- Marta Czerniawska
- Fred Modell
- Content type: Poster presentation
- Open Access
- Published: 19 October 2010
- Article: P10
Orphandev, French Clinical Trials Network dedicated to Orphan drugs and therapeutics development for rare diseases

Authors
- Yolande Adjibi
- Joëlle Micallef
- Olivier Blin
- Content type: Poster presentation
- Open Access
- Published: 19 October 2010
- Article: P11
Registry of Outcome Measures (ROM); tools supporting review and selection of outcome measures (OMs) for studies and trials

Authors
- Joanne Auld
- Michael Rose
- Reza Seyedsadjadi
- Content type: Poster presentation
- Open Access
- Published: 19 October 2010
- Article: P12
E-learning for carers

Authors (first, second and last of 4)
- Olga Solberg
- Jeanette Ullmann Miller
- Mads Bjerke
- Content type: Poster presentation
- Open Access
- Published: 19 October 2010
- Article: P13
Social profiles - a dialogue tool

Authors
- Lene Jensen
- Birthe Byskov Holm
- Content type: Poster presentation
- Open Access
- Published: 19 October 2010
- Article: P14
Abilities of development support in children with genetic syndromes. Experiences from annual integrational meetings

Authors (first, second and last of 5)
- Alina T Midro
- Olga Haus
- Stanisław Zajączek
- Content type: Poster presentation
- Open Access
- Published: 19 October 2010
- Article: P15
European Porphyria Network (EPNET) for information, epidemiological data, quality and equity of service

Authors (first, second and last of 4)
- Jean-Charles Deybach
- Samantha Parker
- Sverre Sandberg
- Content type: Poster presentation
- Open Access
- Published: 19 October 2010
- Article: P16
Aging among persons with invisible disorders: the importance of patient organisations

Authors
- Vigdis Hegna Myrvang
- Kirsten Thorsen
- Content type: Poster presentation
- Open Access
- Published: 19 October 2010
- Article: P17
Evidence-based information guides to rare chromosome disorders for families and professionals

Authors (first, second and last of 4)
- Beverly Searle
- Prisca Middlemiss
- Maj Hulten
- Content type: Poster presentation
- Open Access
- Published: 19 October 2010
- Article: P18

Volume 5, supplement issue 1, October 2010

5th European Conference on Rare Diseases (ECRD 2010)

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