Aims and scope
Journal of Rare Diseases is an open access, peer-reviewed journal with clinical and basic research interests in rare and genetic diseases. A disease is defined as rare when it affects fewer than 1 in 2,000 people, of which 80–90% have a genetic background. The journal aims to make a significant contribution to the field of rare diseases worldwide through publishing well-designed, original and high-quality research articles in the following fields: Epidemiological studies concerned with rare diseases with significant regional and global impact on health care policy; clinical research studies involving rare disorders, with a clear impact on diagnostic or therapeutic strategies; basic medical research with translational significance; novel diagnostic techniques with proper validation and registered clinical trials describing a novel therapy of a rare disorder or a novel use for a known therapeutic agent.
In addition to original research articles, the journal publishes reviews, letters to the editor, case reports, and short communication, thereby providing a forum for discussions on cutting-edge perspectives in the field of rare diseases.
The journal welcomes submissions in all fields of rare diseases, particularly in the fields of oncology, infectious diseases, genetics, neurology, immunology, nephrology and cardiovascular diseases among others.
In addition to original research articles, the journal publishes reviews, letters to the editor, case reports, and short communication, thereby providing a forum for discussions on cutting-edge perspectives in the field of rare diseases.
The journal welcomes submissions in all fields of rare diseases, particularly in the fields of oncology, infectious diseases, genetics, neurology, immunology, nephrology and cardiovascular diseases among others.