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, Poland

13-15 May 2010

Concatenated PDF 5S1

Page 1 of 3

Oral presentation

The German plan for rare diseases: a development in progress

Johann Mathias Graf von der Schulenburg

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

Published on: 19 October 2010
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Oral presentation

State of the art of services in Europe: where are the problems?

Ségolène Aymé

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

Published on: 19 October 2010
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Oral presentation

Recommendations for the development of national plans for rare diseases

Albert Van der Zeijden and Jolanda Huizer

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

Published on: 19 October 2010
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Oral presentation

The added value of centres of expertise for rare disease patients in Europe

Anna A Kole and Yann le Cam

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

Published on: 19 October 2010
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Oral presentation

Individual plans and coordinated services: an empowering process

Stein Are Aksnes

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

Published on: 19 October 2010
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Oral presentation

Building centres of expertise according to the Dutch model?

Fons JM Gabreëls and Jolanda S Huizer

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

Published on: 19 October 2010
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Oral presentation

French experience with rare diseases plans

Guillaume Le Henanff and Gil Tchernia

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

Published on: 19 October 2010
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Oral presentation

The impact of a small parental network: how 11q improved research, knowledge, contacts and support

Annet van Betuw

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

Published on: 19 October 2010
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Oral presentation

Living with Progeria

Marjet Stamsnijder

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

Published on: 19 October 2010
- Full Text
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Oral presentation

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

Steffen Suchert

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

Published on: 19 October 2010
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Oral presentation

Very rare disorders - organisation of care

Raoul CM Hennekam

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

Published on: 19 October 2010
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Oral presentation

The Epidermolysis bullosa house in Salzburg

Gabriela Pohla-Gubo

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

Published on: 19 October 2010
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Oral presentation

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

Kate Bushby

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

Published on: 19 October 2010
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Oral presentation

DYSCERNE: a European Network of Centres of Expertise for Dysmorphology

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

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

Published on: 19 October 2010
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Oral presentation

The European research area network – E-Rare

Sophie Koutouzov

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

Published on: 19 October 2010
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Oral presentation

Determinants for research on rare diseases

Francesc Palau

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

Published on: 19 October 2010
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Oral presentation

Health technology assessment: oncology drugs with orphan designation as an example

Claudia Wild

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

Published on: 19 October 2010
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Oral presentation

Predictors of orphan drug approval

Harald Heemstra

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

Published on: 19 October 2010
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Oral presentation

Cross-border genetic testing

David Barton

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

Published on: 19 October 2010
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Oral presentation

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

Anil Mehta, Jonathan McCormick and Milan Macek Jr

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

Published on: 19 October 2010
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ISSN: 1750-1172

Orphanet Journal of Rare Diseases

5th European Conference on Rare Diseases (ECRD 2010)

Meeting abstracts

The German plan for rare diseases: a development in progress

State of the art of services in Europe: where are the problems?

Recommendations for the development of national plans for rare diseases

The added value of centres of expertise for rare disease patients in Europe

Individual plans and coordinated services: an empowering process

Building centres of expertise according to the Dutch model?

French experience with rare diseases plans

The impact of a small parental network: how 11q improved research, knowledge, contacts and support

Living with Progeria

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

Very rare disorders - organisation of care

The Epidermolysis bullosa house in Salzburg

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

DYSCERNE: a European Network of Centres of Expertise for Dysmorphology

The European research area network – E-Rare

Determinants for research on rare diseases

Health technology assessment: oncology drugs with orphan designation as an example

Predictors of orphan drug approval

Cross-border genetic testing

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

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Orphanet Journal of Rare Diseases

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