Editorial Policies

Focus and Scope

Rare Diseases and Orphan Drugs Journal (RARE Journal) is a new international open access, online, peer-reviewed journal published three times per year, with no publishing fees.

The mission of RARE Journal is to provide an advanced forum on important aspects of public health, health policy and clinical research in ways that will improve health care and outcomes for persons suffering from rare diseases, as well as globally increase rare diseases experience sharing.

RARE Journal serves the international rare diseases community by publishing high-quality articles from epidemiology, public health, health economics, social sciences, ethics and law, with a special accent on rare diseases best practices guidelines, rare diseases research recommendations, and rare diseases epidemiological reports.

RARE Journal publishes several types of articles, including original research article, case report, systematic review and meta-analysis, report of clinical practice guidelines, HTA report, epidemiological registry report, commentary, letter to Editors, meeting and project reports. The journal also anticipates special issues dedicated to a specific topic, such as particular rare disease or a group of rare diseases. Suggestions for topics are welcome.

All manuscripts are peer-reviewed. Accepted papers are published in electronic form.

Selected examples of topics covered by the journal are given below:

  • Health policies and services organization on rare diseases and orphan drugs
  • Rare disease epidemiology research and registries
  • Clinical research and methodology
  • Rare disease best practices
  • Comparative effectiveness research
  • Practice guidelines
  • Socio-economical analysis
  • Primary prevention, risk factors and screening
  • Health promotion
  • Quality assurance (e.g., genetic testing, etc.)
  • Legal and ethical issues
  • Narrative medicine
  • Patients’ needs
  • Quality of life
  • Undiagnosed rare diseases (e.g., single cases, series, etc.)


Section Policies

Epidemiology and Clinical Research

This section guides epidemiologists, public health investigators and health professionals (physicians, nurses, dentists) to what is new and important in epidemiological research including the latest principles and methods of data analysis.

  • Rare diseases epidemiology
  • Clinical research and methodology

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Guidelines, systematic reviews, health technology assessment, and horizon scanning

This section aims to publish studies on comparison of treatments, tests, or health care services for rare diseases field to determine their effectiveness, benefits, and risks. Possible topics include methodology of rare diseases guidelines, systematic reviews, health technology assessment and horizon scanning.

  • Subsection Rare disease guidelines and systematic reviews
  • Subsection Health technology assessment and horizon scanning


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This section aims to publish studies on the protection of fetal and human well-being, as well as the prevention of long-term health consequences, that are related with rare diseases. Possible topics include methods to avoid occurrence of rare diseases, diagnosis of rare diseases, rare diseases rehabilitation and reintegration, health promotion in rare diseases field.

  • Primary prevention, risk factor and screening
  • Quality assurance (genetic testing, etc)

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Rare diseases policy

This section aims to publish studies on polical and societal interception of rare diseases and the human side of rare diseases issues. Possible topics include rare diseases care and access to it, procurement of rare diseases goods and services, health care interventions in rare diseases, decision-making for rare diseases medical goods and services; rare diseases interface between law, economics and health policy, narrative medicine and integrated medical records of rare diseases, quality of life in rare diseases, freedom and human rights protection of rare diseases patients, rare diseases advocacy.

  • Subsection Policy and decision-making
  • Subsection Health economics
  • Subsection Law and ethics
  • Subsection Narrative medicine and patients’ needs
  • Subsection Quality of life

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Undiagnosed rare diseases

This section publishes studies on undiagnosed rare diseases. It aims to provide answers to patients with mysterious conditions that have long eluded diagnosis, and to advance medical knowledge about rare diseases, as well as rare forms of common diseases. Possible topics both undiagnosed single cases and series. Any longstanding medical condition that eludes diagnosis by a referring physician can be considered undiagnosed and thus be of interest to this section.

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Peer Review Process

Peer review process

Initial decision

The Editors-in-Chief make the initial decision whether a submitted manuscript is suitable for publication in RARE Journal. If they determine that the manuscript fall within the scope of the journal and meets the basic criteria of quality and potential interest and impact, then it is  distributed to the relevant Section Editor(s), otherwise it is rejected with no further processing.


Section Editors prepare a list of expert reviewers who are either Associate Editors or are recruited externally. The manuscript is sent at least to two reviewers. Selection of reviewers is responsibility of the Section Editors, but authors may suggest reviewers. One Section Editor will usually take each article through from start to finish. All potential reviewers are contacted individually to determine availability. RARE Journal operates using a blind review system. Submissions may also undergo statistical review, as appropriate.

Editors, authors and reviewers are informed that the manuscript must be considered confidential. Reviewers are asked to declare any competitive interest they may have in reviewing the manuscript. Any possible competitive interest (personal, financial, professional) with authors or related to the topic should be promptly reported by peer reviewers to the Section Editors. Section Editors identify another reviewer in their place when a conflict of interest exists. Authors can also indicate specific individuals whom they would like to have excluded as reviewers with conflict of interest. Requests to exclude certain potential reviewers may be honored at the discretion of the Section Editors. Editors, authors and reviewers are informed that the manuscript must be considered confidential.

Reviewers are asked to evaluate manuscripts within two weeks. There are four categories for decision: 1) accept; 2) consider with minor revision; 3) consider after major revision; 4) reject. Reviewers evaluate each submission within two weeks, and submit a written report to the Section Editors.

Final decision

The Section Editors consider the comments made by the reviewers, make a decision concerning the manuscript and prepare a report for the Editors-in-Chief. All revised papers are carefully reexamined by the Editors-in-Chief who are the only persons who can officially accept a paper, in consultation with the Editorial Board and reviewers.


Open Access Policy

The full text of every article published in RARE Journal is promptly accessible fully open access on www.rarejournal.org. Authors and readers do not pay registration or any other subscription fees. All articles are published under a Creative Commons License (http://creativecommons.org/licenses/by-nc-nd/3.0/legalcode).

Copyright and license policy

In submitting an article to RARE-Journal author certify that:

  • The article is original, has not been formally published in any other peer-reviewed journal, is not under consideration by any other journal
  • he/she is authorised by the other co-authors to enter this license to publish on behalf of them.
  • he/she/they are the sole creator(s) of the article and that the article does not infringe any existing third party copyright or moral right.
  • he/she/they agree to the following license agreement, explained bellow.

RARE Journal’s summary of license


Anyone is free:

  • to Share – to copy, distribute and transmit the work

Under the following conditions:

  • Attribution – you must attribute the work in the manner specified by the author or licensor (but not in any way that suggests that they endorse you or your use of the work).
  • Noncommercial – you may not use this work for commercial purposes.
  • No derivative works – you may not alter, transform, or build upon this work.

With the understanding that:

  • Waiver – any of the above conditions can be waived if you get permission from the copyright holder.
  • Public Domain – where the work or any of its elements is in the public domain under applicable law, that status is in no way affected by the license.
  • Other Rights – In no way are any of the following rights affected by the license:
    • Your fair dealing or fair use rights, or other applicable copyright exceptions and limitations;
    • The author's moral rights;
    • Rights other persons may have either in the work itself or in how the work is used, such as publicity or privacy rights.


Ethical Policy

Authorship and contributorship

Authorship criteria

An “author” is generally considered to be someone who has made substantive intellectual contributions to a published study. Scientific authorship implies to have important academic, social, and financial consequences. An author must take responsibility for at least one component of the work, should be able to identify who is responsible for each other component, and should ideally be confident in their co-authors’ ability and integrity. RARE Journal requests authors to provide information about contributions to studies from persons listed as authors in the acknowledgment section of the manuscript.

RARE Journal adheres to the ICJME criteria for authorship:

  • substantial contributions to conception and design, acquisition of data, or analysis and interpretation of data;
  • drafting the article or revising it critically for important intellectual content;
  • final approval of the version to be published.

Authors should meet all these conditions. All persons designated as authors should qualify for authorship, and all those who qualify should be listed. Each author should have participated sufficiently in the work to take public responsibility for appropriate portions of the content.

All contributors who do not meet the criteria for authorship should be listed in an acknowledgments section. Financial and material support should also be acknowledged.

Multicentre work

If a multicentre group has conducted the work, the group should identify the individuals who accept direct responsibility for the manuscript. When submitting a manuscript authored by a group, the corresponding author should clearly indicate the preferred citation and identify all individual authors as well as the group name. Acquisition of funding, collection of data, or general supervision of the research group alone does not constitute authorship.

Standard of health research reporting

RARE Journal supports initiatives aimed at improving the reporting of health research since it considers that:

  • good reporting is an integral part of good research;
  • good reporting increases the usability of research;
  • good reporting facilitates the evaluation of the manuscript;
  • good reporting increase the probability of a successful acceptance;

Therefore authors should use the following guidelines when drafting their manuscript:

  • CONSORT Statement if reporting of randomized controlled trials;
  • STROBE if reporting of observational studies;
  • STARD reporting of diagnostic accuracy studies;
  • PRISMA reporting of systematic reviews systematic review or meta-analysis;
  • MOOSE reporting of meta-analyses of observational studies;
  • GRADE reporting guidelines assessing the quality of evidence (confidence in effects), strength of evidence or level of evidence and developing recommendations for health care guidelines.

The above mentioned guidelines are collected and available at the Equator network website (www.equator-network.org).

Competing interest

A competing interest or conflict of interest is a set of circumstances that creates a risk that professional judgment will be unduly influenced by secondary interests. It means that the interpretation and presentation of data may be influenced by your personal or financial relationship with other people or organisations. That is why public trust in the peer-review process and the credibility of RARE Journal published articles depends on removing any form of competing interest during the processes of peer-review, and editorial decision-making.

All authors and reviewers are requested to disclose any actual or potential conflict of interest including any financial, personal or other relationships within three years of beginning the submitted work that could inappropriately influence, or be perceived to influence, their work. To prevent ambiguity, authors must state explicitly whether potential conflicts do or do not exist.

RARE Journal is making its final decisions about manuscripts on no personal, professional, or financial ground that may influence the judgment. RARE Journal Editorial staff provides editors a regular declaration of financial interests and is asked to recluse from any decisions in which a conflict of interest exists. Editorial staff will not use information gained through working with manuscripts for private gain.

Mandatory conflict-of-interest disclosure declaration

RARE Journal adopts the ICMJE uniform form for conflict-of-interest disclosure (http://www.icmje.org/coi_instructions.html). All authors must provide a signed copy of it upon the manuscript’s submission.

Protection of human subjects and animals in research

When reporting experiments on human subjects, authors should indicate whether the procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2008. Authors must explain the rationale for their approach and demonstrate that the institutional review body explicitly approved the doubtful aspects of the study. When reporting experiments on animals, authors should indicate whether the institutional and national guide for the care and use of laboratory animals was followed.

Overlapping publications

RARE Journal is not accepting for review manuscripts that are simultaneously being considered by other journals. Authors are asked to declare that the submitted material is not either considered, or being already published in another journal.

Duplicate publication of original research is not allowed. RARE Journal is not publishing manuscripts that have already been reported in large part in a published article or are contained in another paper that has been submitted or accepted for publication elsewhere, in print or in electronic media.

Nevertheless, RARE Journal is accepting for consideration papers that have been rejected by another journal, or a complete report that follows publication of a preliminary report, such as an abstract or poster displayed at a professional meeting. In the last case, the manuscript could have been presented at a scientific meeting but has not been published in full. Brief press reports of scheduled meetings are exempt from this rule, but they are required to contain additional data, tables or figures. RARE Journal is following the ICMJE decision not to consider results posted in clinical trial registries as previous publication if the results are presented in the same. The registry should either cite full publications of the results when available or include a statement that indicates that the results have not yet been published in a peer-reviewed journal.

Previous submission

Authors are asked to make a complete statement to the editor about all submissions and previous reports (including meeting presentations and posting of results in registries) that might be regarded as redundant or duplicate publication. The author must alert the editor if the manuscript includes subjects about which the authors have published a previous report or have submitted a related report to another publication. Any such report must be referred to and referenced in the new paper. Copies of such material should be included with the submitted manuscript to help the editor decide how to handle the matter.

If RARE Journal was not aware of the violations and the article has already been published, then a notice of duplicate publication will be published with or without the author’s explanation or approval.

Preliminary reporting

Preliminary reporting to public media, governmental agencies, or manufacturers of scientific information described in a paper or a letter to the editor that has been accepted but not yet published violates the ethic policies of RARE Journal. Such reporting should be discussed with and agreed upon by the editor in advance.


RARE Journal does not consider translations to be “republications” and does accept them.

Co-authors’ disputes

RARE Journal is not considering competing manuscripts based on same study and does not take any responsibility in dealing with co-investigators’ disputes. Authors when submitting a manuscript should declare that they are the legitimate owners of the papers’ rights. If RARE Journal was not aware of such violations and the article has already been published, then a notice of competing manuscript will be published with or without the author’s explanation or approval.

If co-authors have differences in analysis or interpretation, they may submit a manuscript that clearly presents both versions. The difference of opinion should be explained in a cover letter. The normal process of peer and editorial review may help to resolve this disagreement. If the dispute cannot be resolved and the study merits publication, both versions should be published. Options include publishing two papers on the same study, or a single paper with two analyses or interpretations. In such cases, it would be appropriate for the editor to publish a statement outlining the disagreement and the journal’s involvement in attempts to resolve it.

Corrections, retractions and expressions of concern

RARE Journal editors assume initially that authors are reporting work based on honest observations. Nevertheless, different types of problems may arise.

Technical errors

Technical errors may be noted in published articles that require the publication of a correction or erratum on part of the work. The corrections would appear on a numbered page, be listed in the Table of Contents, include the complete original citation, and link to the original article. If an error is conceived as serious to vitiate the entire body of the work, RARE Journal may require a special correction or even a withdrawal of the material. Such an error should not be confused with inadequacies exposed by the emergence of new scientific information in the normal course of research. The latter requires no corrections or withdrawals.

Scientific fraud and plagiarism

RARE Journal strongly condemns scientific fraud and plagiarism. If substantial doubt arises about the honesty, integrity or authorship of work, either submitted or published, the Journal ensures that the question is appropriately pursued and responded. However, it is not the responsibility of RARE Journal to conduct a full investigation or to make a determination – this responsibility lies with the institution where the work was done or with the funding agency. If such paper has been published, RARE Journal will print a retraction. If this method of investigation does not result in a satisfactory conclusion, the editor may choose to conduct his or her own investigation. As an alternative to retraction, the editor may choose to publish an expression of concern about aspects of the conduct or integrity of the work. The Journal may ask the author’s institution to assure them of the validity of earlier work published in the journals or to retract it. If this is not done, RARE Journal may choose to publish an announcement expressing concern that the validity of previously published work is uncertain.