Ausgabe Sonderheft 1/2010
5th European Conference on Rare Diseases (ECRD 2010)
Inhalt (60 Artikel)
The German plan for rare diseases: a development in progress
Johann Mathias Graf von der Schulenburg
State of the art of services in Europe: where are the problems?
Ségolène Aymé
Recommendations for the development of national plans for rare diseases
Albert Van der Zeijden, Jolanda Huizer
The added value of centres of expertise for rare disease patients in Europe
Anna A Kole, Yann le Cam
Individual plans and coordinated services: an empowering process
Stein Are Aksnes
Building centres of expertise according to the Dutch model?
Fons JM Gabreëls, Jolanda S Huizer
French experience with rare diseases plans
Guillaume Le Henanff, Gil Tchernia
The impact of a small parental network: how 11q improved research, knowledge, contacts and support
Annet van Betuw
A "Family Project" to fight Usher, a rare disease leading to deaf-blindness
Steffen Suchert
Advancing diagnosis, care and treatment for people with neuromuscular diseases around the world: a network of excellence to catalyse research infrastructure globally
Kate Bushby
DYSCERNE: a European Network of Centres of Expertise for Dysmorphology
Krystyna Chrzanowska, Jill Clayton-Smith, Ruth Day, Pamela Griffiths
Health technology assessment: oncology drugs with orphan designation as an example
Claudia Wild
Comparative demographics of the European Cystic Fibrosis population: does EU membership confer an advantage?
Anil Mehta, Jonathan McCormick, Milan Macek Jr
Classification of rare diseases: a worldwide effort to contribute to the International Classification of Diseases
Ana Rath, Ségolène Aymé, Bertrand Bellet
Scope and management of Patient Registries for orphan rare disease (ORD) meeting the demands of all involved stakeholders
Elizabeth Hernberg-Ståhl
Contribution of rare disease patient organisations to medical education
Rainald von Gizycki
The Swedish rare disease information database and the Swedish information centre for rare diseases
Christina Greek-Winald, Birgitta Gustafsson, Lisbeth Högvik
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
Antoni Montserrat Moliner, Ségolène Aymé
Cross-border healthcare? The Polish experience
Jolanta Sykut-Cegielska
The present situation of Rare Diseases in Central/Eastern Europe? The role of patient organisations
Gabor Pogany
Cross-border health care represents a key issue in the field of rare diseases
Paola Facchin
Patient involvement and empowerment through the NPRD (Eastern Europe)
Dorica Dan
WHO International Classification of Diseases (ICD) Revision Process: incorporating rare diseases into the classification scheme: state of art
Ségolène Aymé, Ana Rath, Bertrand Bellet
European Project for Rare Diseases National Plans Development (EUROPLAN)
Domenica Taruscio, Luciano Vittozzi
EURORDIS Summer School for patient advocates in clinical trials and drug development
Maria Mavris, Fabrizia Bignami
Genetic testing in Europe: transborder testing is a necessity
Mariana Jovanovic, Els Dequeker, Lieve Desmet, Michael Morris, Jean-Jacques Cassiman, Ségolène Aymé
Rare diseases research in Europe: an overview based on data from the Orphanet database
Natalia Martin, Nicolas Doulet, Virginie Hivert, Ségolène Aymé
Cystic Fibrosis in Europe - remote measurement of outcome
Anil Mehta, Gita Mehta, Milan Macek
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
Marcin Mikos, Mikolaj Krzyzanowski, Wojciech Cichy, Pawel Wojtowicz, Anna Sandurska
Cell therapies for Duchenne muscular dystrophy: some ethical issues for personalised medicines
Pauline McCormack
Living with OI = Osteogenesis imperfecta = brittle bone disease
Ute Wallentin
Primary Immunodeficiencies (PID): driving diagnosis for optimal care in Europe
Marta Czerniawska, Fred Modell
Orphandev, French Clinical Trials Network dedicated to Orphan drugs and therapeutics development for rare diseases
Yolande Adjibi, Joëlle Micallef, Olivier Blin
Registry of Outcome Measures (ROM); tools supporting review and selection of outcome measures (OMs) for studies and trials
Joanne Auld, Michael Rose, Reza Seyedsadjadi
E-learning for carers
Olga Solberg, Jeanette Ullmann Miller, Synne Heivang, Mads Bjerke
Abilities of development support in children with genetic syndromes. Experiences from annual integrational meetings
Alina T Midro, Olga Haus, Krystyna Kobel-Buys, Jolanta Wierzba, Stanisław Zajączek
European Porphyria Network (EPNET) for information, epidemiological data, quality and equity of service
Jean-Charles Deybach, Samantha Parker, Mike Badmiton, Sverre Sandberg
Aging among persons with invisible disorders: the importance of patient organisations
Vigdis Hegna Myrvang, Kirsten Thorsen
Evidence-based information guides to rare chromosome disorders for families and professionals
Beverly Searle, Prisca Middlemiss, Sarah Wynn, Maj Hulten
EU Clinical trial regulation in the environment of rare diseases: time for a change
Martine Zimmermann
DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes
Pam Griffiths, Kate Strong, Sara Gardner, Ruth Day, Caroline Harrison, Kerr Bronwyn, Kay Metcalfe, Han Brunner, Dian Donnai, Bruno Dallapiccola, Koenraad Devriendt, Malgorzata Krajewska-Walasek, Nicole Philip, Jill Clayton-Smith
Wilson France: a national database for Wilson’s disease
Jean-Marc Trocello
International registry: genetic and phenotypic characteristics of a heterogenous group of disorders
Cornelia Zeidler, Gusal Pracht, Manuela Germeshausen, Karl Welte
Psychological aspects of living with rare disease: development of psychological skills of rare disease patients. How to improve patients’ quality of life by developing psychological skills necessary to cope with the disease
Yolanta Wierzba, Joanna Jaglowska, Emilia G Suszka
The patients’ organisations of children with primary immunodeficiency in Poland
Ewa Bernatowska, Malgorzata Pac, Dorota Marynowicz
New functionalities in Orphanet for orphan drugs, R&D and marketing authorisations to better serve the rare diseases community
Virginie Hivert, Natalia Martin, Marc Hanauer, Ségolène Aymé
Evaluation of population newborn screening practices for rare disorders in member states of the European Union
Luciano Vittozzi, Georg F Hoffmann, Martina Cornel, Gerard Loeber
APTIC: a social network to improve the quality of life of members of patients' associations
Manuel Armayones, Eulàlia Hernández-Encuentra, Beni Gómez-Zúñiga, Noemí Guillamon, Gerardo Ontiveros, Ana Bosque, Begonya Nafría
Issues of management of Epidermolysis bullosa in Georgia
Oleg Kvlividze, Tamar Chigladze, George Tvaliashvili, George Galdava