ISSN (printed): 2167-549X. ISSN (electronic): 2167-5511.
Rare Diseases is a peer-reviewed journal that publishes high-quality research addressing the underlying mechanisms of rare diseases. In the US, a disease or disorder is considered rare when it affects less than 200,000 people at any given time. In the EU, a disease or disorder is considered rare when it affects less than 1 in 2,000 people. Our goals are to publish original research articles and to raise awareness about rare diseases. Rare Diseases covers a range of topics including studies of disease-related proteins, analyses of rare disease mutations, gene expression analyses of rare disease genes, genotype-phenotype correlations, studies of animal models, and novel clinical findings. Rare Diseases publishes several types of articles including original research manuscripts, reviews, addenda, highlights from foundations devoted to rare diseases, and discussions about rare disease diagnoses. Reviews and addenda will typically be invited, although foundations may submit highlight articles at any time. We also anticipate special issues dedicated to a particular rare disease or a related group of diseases.
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