Orphanet J Rare Dis
The Orphanet Journal of Rare Diseases, with the ISSN 1750-1172, is a premier open-access, peer-reviewed medical journal dedicated to the field of rare diseases. Published by BioMed Central (BMC), part of Springer Nature, the journal serves as a central, authoritative resource for clinicians, researchers, healthcare policymakers, and patient advocacy groups involved in the study and management of rare conditions. Its scope encompasses all aspects of rare diseases, including their epidemiology, etiology, genetics, clinical manifestations, diagnosis, and treatment. The journal places a strong emphasis on translational research, covering topics such as natural history studies, clinical trials, therapeutic interventions, and health services research. It publishes a diverse range of article types, including original research articles, comprehensive reviews, systematic reviews, clinical case reports, and short reports. Notably, it also features highly cited, disease-specific “reviews on rare diseases” that serve as definitive reference summaries for specific conditions. As an open-access journal, it ensures that all published content is freely and permanently available online, promoting global dissemination and accessibility of critical knowledge in this specialized field. With a 2026 Impact Factor of 4.3030, the journal holds a respected position in the JCR Quartile Q2 within the categories of Genetics & Heredity and Medicine, General & Internal. This impact factor reflects its significant influence and consistent citation among the scientific community, making it a key publication for advancing the understanding and treatment of rare diseases. Its standing as a Q2 journal underscores its role as a high-quality, widely read platform that bridges clinical practice and biomedical research in the rare disease landscape.