In this issue
Rare Diseases
Volume 1, Issue 1January/February/March 2013
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About the cover
Rodeo Star sculpture by Clay Hoffman (clayhoffman@frontier.com). In an addendum, Figley and Gitler discuss how inhibiting RNA lariat debranching enzyme...Continue reading
Editor-in-Chief
Timur Yusufzai, Ph.D.
Harvard Medical School
Boston, MA USA
Email the Executive Editor, Patricia Szajner.
Rare Diseases is an Online, Open Access publication. We are accepting submissions Now!
Rare Diseases is accepting submissions now. Please click here to submit your manuscript.
For general guidelines for submitting your manuscript, please click here.
Introducing Rare Diseases
The first issue of this new journal is underway.
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. Suggestions for topics are welcome.
