Who are we?
Orphanet Bulgaria National hub is a project of the international organization Orphanet and the Bulgarian Association for Promotion of Education and Science (BAPES), Institute for Rare Diseases, Bulgaria.
Orphanet was established in 1997 in France and supported by the European Commission since 2000. Currently 41 countries in and outside Europe participate in this initiative, one of which is Bulgaria.
The main objectives of Orphanet are:
- Improving information on rare diseases in healthcare and research by maintaining the Orphanet nomenclature.
- Providing accurate information, experience and contribution to the advancement of knowledge about rare diseases.
Orphanet nomenclature is a multilingual medical terminology specific for rare diseases that includes all nosological entities registered in the Orphanet database. This clinical coding system ensures the acquisition of detailed epidemiological data on rare diseases, the planning and allocation of health resources, and the improvement of diagnosis, treatment and follow-up of patients with rare diseases. On the Orphanet website you can find detailed information on the classification of rare diseases, medical professionals, patient organizations, expert centers and clinical trials.
Orphanet National Hub Bulgaria
Our goal is to accelerate ORPHA coding and facilitate its correct proper? use within Rare Disease Expert Centers by:
Identifying the challenges and needs of the partners
Organizing and conducting adapted trainings
Facilitating communication by creating an information center
Orphanet Data for Rare Disease (OD4RD)
Orphanet National Hub – Bulgaria is part of the Orphanet Data for Rare Disease (OD4RD) project, which was launched in January 2022. The objectives of the project are:
- 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.
- Harmonize data collection across different settings (health records, registries) and countries by disseminatingbest coding practices.
- Supportingevidence-based decision-making by providing comprehensive data on rare diseases.
Dr. Rumen Stefanov is Professor of Public Health at the Medical University of Plovdiv, Director of the Institute of Rare Diseases, Bulgaria and President of ICORD: 2023-2025.
Prof. Stefanov successfully launched projects for rare diseases in Bulgaria and Eastern Europe: Information Center for Rare Diseases and Orphan Drugs (2004), Eastern European Conferences for Rare Diseases (2005-2011), medical center “RareDis” (2009 .), Center for Health Technology Assessment and Analysis (2013), as well as rare disease initiatives in Russia, Romania, Turkey, Ukraine and other countries in the region.
Dr. Stefanov is a recognized expert in the field of rare disease policies at national level, as the chairman of the working groups at the Ministry of Health for the National Program for Rare Diseases and the Ordinance on the Terms and Procedures for Registering Rare Diseases and on Expert Centers and References rare disease networks. He currently chairs the Commission for Rare Diseases at the Ministry of Health and the Bulgarian Scientific Society of Public Health.
Dr. Elena Mitova is Medical Manager, Institute of Rare Diseases and manager of the EU-funded Screen4Care, OD4RD2 projects.
She has master’s degrees in medicine and business administration, specialities in pediatrics and pediatric nephrology.
Dr. Mitova has clinical and academic experience as a chief assistant in a nephrology clinic at the University Children’s Hospital, Sofia and management experience in the field of healthcare and pharmaceutical industry , regulatory affairs, marketing, public relations, management, as well as projects in the field of health technology assessment.
Dr. Georgi Stefanov is project manager within the Institute of Rare Diseases. He has master’s degrees in Medicine, Business Administration, PhD in Public Health, clinical and academic experience and has successfully completed courses in Innovation, IESE, Spain and Sharpening Strategic Skills, INSEAD, France. Dr. Stefanov initiated and led under the auspices of the Pharmaceutical Group of the European Union the development of a Pharmaceutical Guide for Patients in Pain (2012). He has been member of the EU pharmaceutical working group contributing to the EC & EMA Biosimilars in EU – Information guide for HCPs (2017), Screen4Care, BUR-EB and OD4RD2 EU funded projects, National rare disease awareness campaign “Like All of Us”, HTAs and partnership projects focused on rare diseases and orphan drugs.
Dr. Kostadin Dimitrov is project manager – Orphanet Data for Rare Disease (OD4RD) at the Bulgarian Association for Promotion of Education and Science (BAPES), Institute for Rare Diseases. He is a doctor with four years of clinical experience, member of the Bulgarian Medical Union and the Bulgarian Scientific Society for Public Health. Assistant professor and full-time doctoral student at the Department of Social Medicine and Public Health at Medical University – Plovdiv.
Orphanet Bulgaria National Hub: firstname.lastname@example.org