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

Wien Klin Wochenschr. 2017 Jan;129(1-2):1-7. doi: 10.1007/s00508-016-1133-3. Epub 2016 Dec 1.

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.

Keywords: CLINET; EB House; Epidermolysis bullosa; European Union; Orphan diseases.

MeSH terms

  • Austria
  • Epidermolysis Bullosa / diagnosis*
  • Epidermolysis Bullosa / therapy*
  • European Union / organization & administration*
  • Evidence-Based Medicine
  • Hospitals, General / organization & administration*
  • Humans
  • Interinstitutional Relations
  • Models, Organizational*
  • Patient Care Management / organization & administration
  • Patient Care Team / organization & administration*
  • Rare Diseases / diagnosis
  • Rare Diseases / therapy