About Orphanet Journal of Rare Diseases

This page includes information about the aims and scope of Orphanet Journal of Rare Diseases, editorial policies, open access and article-processing charges, the peer review process and other information. For details of how to prepare and submit a manuscript through the online submission system, please see the instructions for authors.

Aims & scope

Orphanet Journal of Rare Diseases is an open access, online 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.

As the official journal of Orphanet, the European portal for rare diseases and orphan drugs, the journal provides researchers and clinicians with the opportunity to publish state of the art developments in the area of rare diseases and orphan drugs.

The journal focuses on publishing high quality review articles encompassing all aspects of diagnosis, clinical description, clinical work-up and management as well as aetiopathogenesis, epidemiology, and genetic counselling of rare diseases. By bringing together knowledge of basic research and clinical practice and providing information crucial for optimised diagnosis and management, Orphanet Journal of Rare Diseases aims to contribute to the improved care of patients affected by rare diseases.

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.

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

Article-processing charges

Open access publishing is not without costs. Orphanet Journal of Rare Diseases therefore levies an article-processing charge of £1255/$1895/€1465 for each article accepted for publication. We routinely waive charges for authors from low-income countries. Generally, if the submitting author's institution is a Member the cost of the article-processing charge is covered by the membership, and no further charge is payable. In the case of authors whose institutions are Supporter Members, however, a discounted article-processing charge is payable by the author. For further details, see our article-processing charge page. A limited number of waivers for article-processing charges are also available at the editors' discretion, and authors wishing to apply for these waivers should contact the editors.

Indexing services

All articles published in Orphanet Journal of Rare Diseases are included in PubMed, the most widely used biomedical bibliographic database service, which is run by the US National Library of Medicine. Other bibliographic databases that index articles published in Orphanet Journal of Rare Diseases include:

  • Citebase
  • Embase
  • EmCare
  • Google Scholar
  • Index Copernicus
  • MEDLINE
  • OAIster
  • PubMed
  • PubMed Central
  • Science Citation Index Expanded
  • SCImago
  • Scirus
  • Scopus
  • SOCOLAR
  • Zetoc

The full text of all research articles is deposited in PubMed Central, the US National Library of Medicine's full-text repository of life science literature, and other digital archives including e-Depot (The Netherlands).

Orphanet Journal of Rare Diseases is tracked by Thomson Reuters (ISI)and has an Impact Factor of 5.07.

Publication and peer review process

Criteria for publication

Orphanet Journal of Rare Diseases considers the following types of articles:

  • Research: reports of data from original research and clinical trial outcomes.
  • Reviews: comprehensive, authoritative descriptions of any subject within the scope of the journal.

Citation of bioresources used

Orphanet Journal of Rare Diseases encourages authors to provide the name of the bioresource (and identifier, if available) that provided samples/data useful for the conduct of the study, either in the Material and Methods section or in the Acknowledgements of the submitted manuscript.

Peer review policies

All peer review for Orphanet Journal of Rare Diseases is closed, meaning that the reviewers' names are kept confidential. 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. Reviewers are asked to declare any competing interests they may have in reviewing a manuscript. The journal aims for a first decision to be made within 6 weeks of receipt of the submission and the Editor-in-Chief makes the final decision on publication.

Authors will be able to check the progress of their manuscript through the submission system at any time by logging into My Orphanet Journal of Rare Diseases, a personalized section of the site.

Reprints

High-quality, bound reprints can be purchased for all articles published. Please see our reprints website for further information about ordering reprints.

Supplements

Orphanet Journal of Rare Diseases will consider supplements based on proceedings (full articles or meeting abstracts), reviews or research. All articles submitted for publication in supplements are subject to peer review. Published supplements are fully searchable and freely accessible online and can also be produced in print. All full length articles (proceedings, reviews or research articles) are indexed by PubMed. PubMed displays the title of the supplement only in the case of meeting abstract collections. For further information, please contact us.

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.

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. Articles that have been especially highly accessed are highlighted with a 'Highly accessed' graphic, which appears on the journal's contents pages and search results.

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 are published with their final citation immediately upon acceptance in a provisional PDF form. The article will subsequently be published in both fully browsable web form, and as a formatted PDF; the article will then be available through Orphanet Journal of Rare Diseases, BioMed Central and PubMed Central and will also be included in PubMed.

Flexibility

Online publication in Orphanet Journal of Rare Diseases gives authors 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 papers).

Promotion and press coverage

Articles published in Orphanet Journal of Rare Diseases are included in article alerts and regular email updates. Some may be included in abstract books mailed to academics and are 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.

Authors of articles published in Orphanet Journal of Rare Diseases retain the copyright of their articles and are free to reproduce and disseminate their work (for further details, see the BioMed Central copyright and license agreement).

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