title: Epidermolysis bullosa House Austria and Epidermolysis bullosa clinical network : Example of a centre of expertise implemented in a European reference network to face the burden of a rare disease.
abstract: Accurately addressing the diverse and complex issues of rare diseases (RD) in terms of prevention, recognition, diagnosis, treatment, care and research along key RD specificities, such as great heterogeneity, a limited number of patients, scarcity of relevant knowledge and expertise as well as enormous costs for patient care is a challenging task for healthcare providers and authorities that makes a supranational approach particularly feasible. The European Union has acknowledged RD matters by several initiatives, including efforts to implement national centres of expertise and European reference networks as well as a cross-border referral mechanism to foster access to expert services and to boost dissemination of clinical expertise and research activities. Exemplified by the EB House Austria, a centre of expertise for epidermolysis bullosa cross-linked with international reference partner institutions, this strategy proves its potential to be translated into optimized patient care and to meet the major medical, scientific, social and health-economic impact of RD.
authors.affiliation: Department of Dermatology, Paracelsus Medical University Salzburg, Muellner Hauptstraße 48, 5020, Salzburg, Austria. m.laimer@salk.at.
authors.forename: Martin
authors.initials: M
authors.lastname: Laimer
authors.affiliation: Department of Dermatology, Paracelsus Medical University Salzburg, Muellner Hauptstraße 48, 5020, Salzburg, Austria.
authors.forename: Gabriela
authors.initials: G
authors.lastname: Pohla-Gubo
authors.affiliation: Department of Dermatology, Paracelsus Medical University Salzburg, Muellner Hauptstraße 48, 5020, Salzburg, Austria.
authors.forename: Anja
authors.initials: A
authors.lastname: Diem
authors.affiliation: Department of Dermatology, Paracelsus Medical University Salzburg, Muellner Hauptstraße 48, 5020, Salzburg, Austria.
authors.forename: Christine
authors.initials: C
authors.lastname: Prodinger
authors.affiliation: Department of Dermatology, Paracelsus Medical University Salzburg, Muellner Hauptstraße 48, 5020, Salzburg, Austria.
authors.forename: Johann W
authors.initials: JW
authors.lastname: Bauer
authors.affiliation: Department of Dermatology, Paracelsus Medical University Salzburg, Muellner Hauptstraße 48, 5020, Salzburg, Austria.
authors.forename: Helmut
authors.initials: H
authors.lastname: Hintner
mesh_terms: D001317:Austria; D004820:Epidermolysis Bullosa / Q000175:diagnosis* / Q000628:therapy*; D005062:European Union / Q000458:organization & administration*; D019317:Evidence-Based Medicine; D006769:Hospitals, General / Q000458:organization & administration*; D006801:Humans; D007373:Interinstitutional Relations; D017146:Models, Organizational; D010346:Patient Care Management / Q000458:organization & administration; D010348:Patient Care Team / Q000458:organization & administration*; D035583:Rare Diseases / Q000175:diagnosis / Q000628:therapy
keywords: CLINET; EB House; Epidermolysis bullosa; European Union; Orphan diseases