About

Aims and scope

Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs.

Open access

All articles published by Orphanet Journal of Rare Diseases are made freely and permanently accessible online immediately upon publication, without subscription charges or registration barriers. Further information about open access can be found here.

As authors of articles published in Orphanet Journal of Rare Diseases you are the copyright holders of your article and have granted to any third party, in advance and in perpetuity, the right to use, reproduce or disseminate your article, according to the BioMed Central license agreement.

For those of you who are US government employees or are prevented from being copyright holders for similar reasons, BioMed Central can accommodate non-standard copyright lines. Please contact us if further information is needed.

Article-processing charges

Open access publishing is not without costs. Orphanet Journal of Rare Diseases therefore levies an article-processing charge of £1510/$2365/€1925 for each article accepted for publication. If the corresponding author's institution participates in our open access membership program, some or all of the publication cost may be covered (more details available on the membership page). We routinely waive charges for authors from low-income countries. For other countries, article-processing charge waivers or discounts are granted on a case-by-case basis to authors with insufficient funds. Authors can request a waiver or discount during the submission process. For further details, see our article-processing charge page.

BioMed Central provides a free open access funding support service to help authors discover and apply for article processing charge funding. Visit our OA funding and policy support page to view our list of research funders and institutions that provide funding for APCs, and to learn more about our email support service.

Indexing services

All articles published in Orphanet Journal of Rare Diseases are included in:

  • Citebase
  • DOAJ
  • Embase
  • EmCare
  • MEDLINE
  • OAIster
  • PubMed
  • PubMed Central
  • Science Citation Index Expanded
  • SCImago
  • Scopus
  • SOCOLAR
  • Zetoc

The full text of all articles is deposited in digital archives around the world to guarantee long-term digital preservation. You can also access all articles published by BioMed Central on SpringerLink.

Orphanet Journal of Rare Diseases has an Impact Factor of 3.290.

Peer-review policy

Peer-review is the system used to assess the quality of a manuscript before it is published. Independent researchers in the relevant research area assess submitted manuscripts for originality, validity and significance to help editors determine whether the manuscript should be published in their journal. You can read more about the peer-review process here.

Orphanet Journal of Rare Diseases operates a single-blind peer-review system, where the reviewers are aware of the names and affiliations of the authors, but the reviewer reports provided to authors are anonymous.

The benefit of single-blind peer review is that it is the traditional model of peer review that many reviewers are comfortable with, and it facilitates a dispassionate critique of a manuscript.

Publication of research articles by Orphanet Journal of Rare Diseases is dependent primarily on their scientific validity and coherence as judged by our external expert editors and/or peer reviewers, who will also assess whether the writing is comprehensible and whether the work represents a useful contribution to the field. Submitted manuscripts will be screened for relevance and style. Manuscripts deemed suitable for review will be sent to at least two experts, and possibly a statistical reviewer, to determine originality, scientific merit, and significance to the field.

Orphanet Journal of Rare Diseases considers the following types of article: Brief report, Methodology, Research, Software, and Workflow. For more specific information, please take a look at our Submission Guidelines.

Editorial policies

All manuscripts submitted to Orphanet Journal of Rare Diseases should adhere to BioMed Central's editorial policies.

Citing articles in Orphanet Journal of Rare Diseases

Articles in Orphanet Journal of Rare Diseases  should be cited in the same way as articles in a traditional journal. Because articles are not printed, they do not have page numbers; instead, they are given a unique article number.

Article citations follow this format:

Authors: Title. Orphanet J Rare Dis [year], [volume number]:[article number].

e.g. Roberts LD, Hassall DG, Winegar DA, Haselden JN, Nicholls AW, Griffin JL: Increased hepatic oxidative metabolism distinguishes the action of Peroxisome Proliferator-Activated Receptor delta from Peroxisome Proliferator-Activated Receptor gamma in the Ob/Ob mouse. Orphanet J Rare Dis 2009, 1:115.

refers to article 115 from Volume 1 of the journal.

Appeals and complaints

If you wish to appeal a rejection or make a complaint you should, in the first instance, contact the Editor who will provide details of the journal's complaints procedure. For complaints that cannot be resolved with the Editor, the authors should contact the Publisher.

Why publish your article in Orphanet Journal of Rare Diseases

High visibility

Orphanet Journal of Rare Diseases's open access policy allows maximum visibility of articles published in the journal as they are available to a wide, global audience. 

Speed of publication

Orphanet Journal of Rare Diseases offers a fast publication schedule whilst maintaining rigorous peer review; all articles must be submitted online, and peer review is managed fully electronically (articles are distributed in PDF form, which is automatically generated from the submitted files). Articles will be published with their final citation after acceptance, in both fully browsable web form, and as a formatted PDF.

Flexibility

Online publication in Orphanet Journal of Rare Diseases gives you the opportunity to publish large datasets, large numbers of color illustrations and moving pictures, to display data in a form that can be read directly by other software packages so as to allow readers to manipulate the data for themselves, and to create all relevant links (for example, to PubMed, to sequence and other databases, and to other articles).

Promotion and press coverage

Articles published in Orphanet Journal of Rare Diseases are included in article alerts and regular email updates. Some may be highlighted on Orphanet Journal of Rare Diseases’s pages and on the BioMed Central homepage.

In addition, articles published in Orphanet Journal of Rare Diseases may be promoted by press releases to the general or scientific press. These activities increase the exposure and number of accesses for articles published in Orphanet Journal of Rare Diseases. A list of articles recently press-released by journals published by BioMed Central is available here.

Copyright

As an author of an article published in Orphanet Journal of Rare Diseases you retain the copyright of your article and you are free to reproduce and disseminate your work (for further details, see the BioMed Central license agreement).

For further information about the advantages of publishing in a journal from BioMed Central, please click here.