Orphanet Journal of Rare Diseases is an open-access, peer-reviewed journal dedicated to advancing research and knowledge on rare diseases, serving as a key platform for scientists, clinicians, and patient advocates involved in the study and management of these conditions.
This journal covers a wide array of topics including the diagnosis, treatment, pathology, and prevention of rare diseases. It also delves into related areas such as genetics, immunology, and molecular medicine. Indexed in major databases such as PubMed Central and Scopus, it is a crucial resource for researchers, clinicians, and patient communities.
The journal aims to facilitate dissemination of research and foster collaboration, leading to improvements in patient care and outcomes for those affected by rare conditions. Researchers contribute to the journal by publishing new findings and insights related to rare diseases. It welcomes submissions that contribute to understanding and addressing the challenges associated with rare diseases.