Dr. Kostadin Dimitrov and Marie-Cecille Gaillard – Project Manager for Orphanet Nomenclature and Scientific Coordinator of OD4RD, as part of the Orphanet Data for Rare Disease 2 (OD4RD2) project, which started in January 2022, presented the project objectives and results from their research on challenges and expectations of Bulgarian expert centers at the XIV National Conference on Rare Diseases and Orphan Drugs.
Marie-Cecille Gaillard, presented the Orphanet organization, the benefits of implementing Orphanet coding and the goals of the OD4RD 2 project. The video can be viewed here.
The objectives of the project are: the development of standardized, interoperable data for the diagnosis of rare diseases by maintaining the Orphanet nomenclature and providing active support for its implementation in medical facilities, harmonizing the collection of data in different environments (health records, registries) and countries by disseminating best coding practices and supporting evidence-based decision-making by providing comprehensive data on rare diseases.
Dr. Kostadin Dimitrov, National Orphanet hub, Bulgaria presented the results of the study conducted with Bulgarian rare diseases expert centers in 2023.
The objective of the study is to map current coding practices of rare diseases in Bulgaria, as well as to analyze the challenges that the expert centers representatives face in this process and reflect their proposals how to improve the use of Orphanet nomenclature.
The survey results will serve to identify the challenges and needs of our partners and will form a solid base for the work of the newly established National ORPHANET hub Bulgaria, whose goal is to accelerate the implementation and use of ORPHA coding in the expert centers for rare diseases in Bulgaria. / с линк към страницата