Volume 7, supplement issue 2, November 2012

6th European Conference on Rare Diseases and Orphan Products

Issue editors

Kasia Peala
Alice Elliott

41 articles in this issue

State of the art of rare disease activities in Europe: a EUCERD perspective

Authors
- Ségolène Aymé
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A1
State of the art of rare disease activities around the world: overview of the non-European landscape

Authors
- Durhane Wong-Rieger
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A2
National plans: case study Belgium

Authors
- Ri De Ridder
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A3
The second French plan for rare diseases 2011-2014

Authors
- Alain Garcia
- Christel Nourissier
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A4
Scope of centres of expertise for rare diseases in European countries where they exist

Authors
- Charlotte Rodwell
- Ségolène Aymé
- Kate Bushby
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A5
European Reference Networks: developing a EUCERD opinion

Authors
- Kate Bushby
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A6
Can the cross-borders directive improve the quality of genetic testing in the future?

Authors
- Jean-Jacques Cassiman
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A7
Transition from childhood to adulthood in Duchenne muscular dystrophy (DMD)

Authors
- Sunil Rodger
- Birgit F Steffensen
- Hanns Lochmüller
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A8
Developing a national plan for rare diseases in Germany through concerted action: the national action league for people with rare diseases

Authors (first, second and last of 4)
- Véronique Héon-Klin
- Alexandra Halbach
- Birgit Schnieders
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A9
Classification and coding of rare diseases: overview of where we stand, rationale, why it matters and what it can change

Authors
- Peter N Robinson
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A10
Speeding up research with the Semantic Web

Authors
- Marco Roos
- Erik A Schultes
- Barend Mons
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A11
Professional clinical guidelines for rare diseases: methodology

Authors
- Odile Kremp
- Patrice Dosquet
- Ana Rath
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A12
The involvement of patients in developing clinical guidelines

Authors
- Kay Parkinson
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A13
How reference networks develop, implement, and monitor guidelines

Authors (first, second and last of 6)
- Jan Kirschner
- Sunil Rodger
- Kate Bushby
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A14
Training medical students on rare disorders

Authors
- Paula C Byrne
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A15
The Italian project to increase health professionals’ training and awareness on rare diseases

Authors
- Simona Bellagambi
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A16
HTA on neonatal screening for rare metabolic disorders faced misconceptions and blurred objectivity

Authors
- Ilona Autti-Rämö
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A17
Spina Bifida and primary prevention

Authors
- Pierre Mertens
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A18
Finding new medicines to fight CF: multiple steps of a success story

Authors
- Margarida D Amaral
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A19
Exon skipping for DMD

Authors (first, second and last of 5)
- Annemieke Aartsma-Rus
- Jan JGM Verschuuren
- Judith CT van Deutekom
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A20
Fighting for the cures of rare genetic diseases: worthy ideas and promising results demand for strategic research management and for integration of competences and efforts

Authors
- Francesca Sofia
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A21
EPIRARE survey on activities and needs of rare disease registries in the European Union

Authors (first, second and last of 6)
- Domenica Taruscio
- Sabina Gainotti
- Manuel Posada
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A22
Value and specificity of rare diseases business model-is the pursuit of this societal priority sustainable?

Authors
- M Dunoyer
- P Rollet
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A23
Mechanism of coordinated access to orphan drugs

Authors (first, second and last of 6)
- R DeRidder
- C Adriaens
- F Arickx
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A24
A coordinated EU approach to informed access decisions: CAVOD process proposals – the possibility to turn concept into reality?

Authors
- Wills Hughes-Wilson
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A25
Market access of orphan drugs and the role of multi-criteria decision making

Authors
- Steven Simoens
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A26
Leveraging existing opportunities for improved Orphan Drug approval in the EU

Authors
- Catarina Edfjäll
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A27
Compassionate use programmes for rare diseases: proposals for actions

Authors (first, second and last of 5)
- François Houÿez
- Chantal Bélorgey
- Michele Lipucci di Paola
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A28
From rationing to rationality: an n-of-one trial service for off-label medicines for rare (neuromuscular) diseases

Authors (first, second and last of 11)
- Stephanie S Weinreich
- Charlotte Vrinten
- Martina C Cornel
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A29
Listening to children’s and parents’ voices: using patient reported outcomes to empower patients with orphan diseases and their parents

Authors
- Linda Abetz-Webb
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A30
The psychological processes involved in patient empowerment

Authors
- Isabelle Aujoulat
- Bridget Young
- Peter Salmon
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A31
The emergence of the cause of rare diseases and rare disease patients’ movement

Authors
- Caroline Huyard
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A32
The political empowerment of rare disease patient advocates both at EU and national level

Authors
- Terkel Andersen
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A33
Rare family days: a family empowerment programme

Authors
- Ane Lind
- Lene Jensen
- Birthe B Holm
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A34
The democratic problem in the knowledge society of today: Rare Disorders Denmark’s documentation strategy

Authors
- Ane Lind
- Lene Jensen
- Birthe B Holm
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A35
Climb’s black and ethnic minority information project (BEMIS)

Authors
- Steve Hannigan
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A36
Developing a cure for Black Bone Disease

Authors
- Nicolas T Sireau
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A37
Is more involvement needed in the clinical trial design & endpoints?

Authors
- Elizabeth Vroom
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A38
Patient perspective on CT Involvement: are they listening to my needs?

Authors
- Ulrike Pypops
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A39
A route map for the patients journey

Authors
- Paola Pierri
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A40
First German Academy for Further Medical Training on Rare Diseases (FAKSE,http://www.fakse.info)

Authors
- Julia Giehl
- Holm Graessner
- Olaf Riess
- Content type: Meeting abstract
- Open Access
- Published: 22 November 2012
- Article: A41

Volume 7, supplement issue 2, November 2012

6th European Conference on Rare Diseases and Orphan Products

Authors

Authors

Authors

Authors

Authors

Authors

Authors

Authors

Authors (first, second and last of 4)

Authors

Authors

Authors

Authors

Authors (first, second and last of 6)

Authors

Authors

Authors

Authors

Authors

Authors (first, second and last of 5)

Authors

Authors (first, second and last of 6)

Authors

Authors (first, second and last of 6)

Authors

Authors

Authors

Authors (first, second and last of 5)

Authors (first, second and last of 11)

Authors

Authors

Authors

Authors

Authors

Authors

Authors

Authors

Authors

Authors

Authors

Authors

For authors

Explore

Search

Navigation