About Orphanet Journal of Rare Diseases

What is Orphanet Journal of Rare Diseases?

Orphanet Journal of Rare Diseases is an open access, peer-reviewed online journal that encompasses all aspects of rare diseases, including genetic 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. Research on new syndromes and results of clinical trials of exceptional interest will also be considered.

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.

Content overview

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

• Case reports: reports of clinical cases that describe a diagnostic or therapeutic dilemma, suggest an association, or present an important adverse reaction.
• Research: reports of data from original research.
• Reviews: comprehensive, authoritative descriptions of any subject within the scope of the journal. General notes for Review articles:
• The Abstract should consist of one paragraph with the following information (in the order given): definition of the disease, epidemiology, clinical description, aetiology, diagnostic methods, differential diagnosis, genetic counselling (if relevant), antenatal diagnosis (if relevant), management, and prognosis. The emphasis should be on information that is of immediate relevance to clinicians.
• We ask that Review articles include the following information:
  • Disease name/synonyms - please provide all terms used for the disease.
  • Definition - please provide the definition of the disease and the classifications, including, where they exist, those approved or in use internationally.
  • ^*Epidemiology - any data providing epidemiological information, including case reports, are worth mentioning. In order to facilitate the indexation of the rare diseases, authors are asked to place the disease into one of the following prevalence categories: •>1/1000 •<6-9/10,000 •<1-5/10,000 •<1-9/100,000 •<1-9/1,000,000 •very rare •unknown • not documented.
  • Clinical description - particular attention should be paid to describe all clinical manifestations of the disease, including less frequent ones, to enable non-specialists to better diagnose rare diseases.
  • Aetiology - you should describe all known causes and pathological mechanisms. If they are genetic, the mode of inheritance, and the relevant genes and loci should be given.
  • Diagnosis (diagnostic criteria and algorithms) and diagnostic methods - please list the most commonly used diagnostic criteria and all relevant diagnostic methods.
  • Differential diagnosis - please list other diseases or syndromes which have potentially overlapping clinical manifestations.
  • Genetic counselling (when appropriate).
  • Antenatal diagnosis (when relevant).
  • Management including treatment - particular attention should be paid to provide information that is as comprehensive as possible, covering medical, surgical and other types of care, including specific and non-specific management of the disease.
  • Prognosis - This section should be written carefully, in view of the fact that it may be read by patients.
  • Unresolved questions - unresolved questions and new perspectives in the field should be pointed out.

Peer review policies

The Editor will screen submitted manuscripts for relevance and style. Manuscripts accepted 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.

Edited by Ségolène Aymé, Bruno Dallapiccola and Dian Donnai, Orphanet Journal of Rare Diseases is supported by an expert Editorial Board.

Publishing in Orphanet Journal of Rare Diseases

All articles are listed in PubMed immediately upon acceptance (after peer review), and are covered by PubMed Central, MEDLINE, Thomson Reuters (ISI) and Embase.

Articles in Orphanet Journal of Rare Diseases should be cited in the same way as articles in a traditional journal. However, because articles in this journal are not printed, they do not have page numbers. Instead, they have a unique article number.

The following citation:

Orphanet J Rare Dis 2004, 2:1

refers to article 1 from volume 2 of the journal.

As an online journal, Orphanet Journal of Rare Diseases does not have issue numbers. Each volume corresponds to a calendar year.

To keep up to date with the latest articles from Orphanet Journal of Rare Diseases, why not register to receive alerts? Registration also enables you to customise your subject areas of interest, store your searches, and submit your manuscripts.

Submission of manuscripts

Manuscripts should be submitted electronically to Orphanet Journal of Rare Diseases using the online submission system. Full details of how to submit a manuscript are given in the instructions for authors.

General journal policies

Orphanet Journal of Rare Diseases is published by BioMed Central, an independent publisher committed to ensuring peer-reviewed biomedical research is open access. That means it is freely and universally accessible online, it is archived in at least one internationally recognised free access repository, and its authors retain copyright, allowing anyone to reproduce or disseminate articles, according to the BioMed Central copyright and licence agreement. Orphanet Journal of Rare Diseases however, has taken this further by making all its content open access.

Orphanet Journal of Rare Diseases's articles are archived in PubMed Central, the US National Library of Medicine's full-text repository of life science literature, and also at INIST in France and in e-Depot, the National Library of the Netherlands' digital archive of all electronic publications. The journal is also participating in the British Library's e-journals pilot project, and plans to deposit copies of all articles with the British Library.

Orphanet Journal of Rare Diseases is able to deliver summaries of frequently updated content via Really Simple Syndication (RSS) feeds. These are accessible via the orange "XML" button at the top of the list of recent articles or the list of most accessed articles. For more information about RSS feeds see our publisher's website.

For further information about general policies please see the instructions for authors.