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Journal of Rare Diseases

Title Abbreviation

J Rare Dis (Berlin)

Electronic ISSN

2731-085X

Therapeutic Area

Cardiology, Epidemiology, Genetics, Immunology, Nephrology, Neurology, Oncology, Rare Diseases

Readership

Cardiologists, Cardiovascular Surgeons, Clinical Researchers, Clinicians, Epidemiologists, Geneticists, Immunologists, Nephrologists, Neurologists, Oncologists

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.

Sponsoring Association(s)

Egyptian Medical Association (EMA)

Publisher Name

Springer Nature Berlin

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