List of rare diseases in Bulgaria

Abstract

Defining and setting a rare disease inventory is a fundamental part of rare disease policy. This tool is of a paramount importance, as it greatly affects the knowledge and awareness of rare diseases not only among health care practitioners, but among all rare disease stakeholders. An official list of rare diseases is particularly beneficial now in the context of the European reference networks for rare diseases, generating added value at both international and local levels.

In this publication, we demonstrate and analyse the establishment of the List of Rare Diseases in Bulgaria. The Bulgarian experience is a result of a decade-long international collaboration within EU bodies like the Rare Diseases Task Force and the EU Committee of Experts on Rare Diseases, as well as participation in major EU projects, such as RD-Portal (Orphanet), EUROPLAN, EPIRARE, BURQOL-RD, RARE-Bestpractices and RD-Action. Bulgarian rare disease stakeholders applied a transparent, proactive methodology when defining and setting the List. This is a substantial prerequisite for the successful implementation of all ongoing rare disease activities in the country. The described approach could be easily adapted and used in other countries.