Ausgabe Sonderheft 2/2012
6th European Conference on Rare Diseases and Orphan Products
Inhalt (41 Artikel)
State of the art of rare disease activities in Europe: a EUCERD perspective
Ségolène Aymé
State of the art of rare disease activities around the world: overview of the non-European landscape
Durhane Wong-Rieger
The second French plan for rare diseases 2011-2014
Alain Garcia, Christel Nourissier
Scope of centres of expertise for rare diseases in European countries where they exist
Charlotte Rodwell, Ségolène Aymé, Kate Bushby
Can the cross-borders directive improve the quality of genetic testing in the future?
Jean-Jacques Cassiman
Transition from childhood to adulthood in Duchenne muscular dystrophy (DMD)
Sunil Rodger, Birgit F Steffensen, Hanns Lochmüller
Developing a national plan for rare diseases in Germany through concerted action: the national action league for people with rare diseases
Véronique Héon-Klin, Alexandra Halbach, Miriam Schlangen, Birgit Schnieders
Classification and coding of rare diseases: overview of where we stand, rationale, why it matters and what it can change
Peter N Robinson
Speeding up research with the Semantic Web
Marco Roos, Erik A Schultes, Barend Mons
Professional clinical guidelines for rare diseases: methodology
Odile Kremp, Patrice Dosquet, Ana Rath
The involvement of patients in developing clinical guidelines
Kay Parkinson
How reference networks develop, implement, and monitor guidelines
Jan Kirschner, Sunil Rodger, Julia Vry, Kathrin Gramsch, Hanns Lochmüller, Kate Bushby
The Italian project to increase health professionals’ training and awareness on rare diseases
Simona Bellagambi
HTA on neonatal screening for rare metabolic disorders faced misconceptions and blurred objectivity
Ilona Autti-Rämö
Finding new medicines to fight CF: multiple steps of a success story
Margarida D Amaral
Exon skipping for DMD
Annemieke Aartsma-Rus, Jan JGM Verschuuren, Giles V Campion, Gert-jan B van Ommen, Judith CT van Deutekom
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
Francesca Sofia
EPIRARE survey on activities and needs of rare disease registries in the European Union
Domenica Taruscio, Sabina Gainotti, Luciano Vittozzi, Fabrizio Bianchi, Monica Ensini, Manuel Posada
Value and specificity of rare diseases business model-is the pursuit of this societal priority sustainable?
M Dunoyer, P Rollet
Mechanism of coordinated access to orphan drugs
R DeRidder, C Adriaens, D Kleinermans, M Mortier, A Quanten, F Arickx
A coordinated EU approach to informed access decisions: CAVOD process proposals – the possibility to turn concept into reality?
Wills Hughes-Wilson
Market access of orphan drugs and the role of multi-criteria decision making
Steven Simoens
Leveraging existing opportunities for improved Orphan Drug approval in the EU
Catarina Edfjäll
Compassionate use programmes for rare diseases: proposals for actions
François Houÿez, Chantal Bélorgey, Arielle North, Etelka Czondi, Michele Lipucci di Paola
From rationing to rationality: an n-of-one trial service for off-label medicines for rare (neuromuscular) diseases
Stephanie S Weinreich, Charlotte Vrinten, Jan JGM Verschuuren, Carin A Uyl-de Groot, Marja R Kuijpers, Ellen Sterrenburg, Rob JPM Scholten, Cees FRM van Bezooijen, Marcel FTH Timmen, Sonja van Weely, Martina C Cornel
Listening to children’s and parents’ voices: using patient reported outcomes to empower patients with orphan diseases and their parents
Linda Abetz-Webb
The psychological processes involved in patient empowerment
Isabelle Aujoulat, Bridget Young, Peter Salmon
The emergence of the cause of rare diseases and rare disease patients’ movement
Caroline Huyard
The political empowerment of rare disease patient advocates both at EU and national level
Terkel Andersen
Rare family days: a family empowerment programme
Ane Lind, Lene Jensen, Birthe B Holm
The democratic problem in the knowledge society of today: Rare Disorders Denmark’s documentation strategy
Ane Lind, Lene Jensen, Birthe B Holm
Climb’s black and ethnic minority information project (BEMIS)
Steve Hannigan
Is more involvement needed in the clinical trial design & endpoints?
Elizabeth Vroom
Patient perspective on CT Involvement: are they listening to my needs?
Ulrike Pypops
First German Academy for Further Medical Training on Rare Diseases (FAKSE,http://www.fakse.info)
Julia Giehl, Holm Graessner, Olaf Riess