Advances in Rare Diseases

Advances in Rare Diseases
Open Access

ISSN: 2385-5290

About This Journal

Advances in Rare Diseases is an open access journal that operates with a double-blind peer review policy and publishes articles on recent advances in the understanding of the processes responsible for and associated with rare diseases.

The journal was launched in September 2014.

Aims & Scope

Dissemination and implementation of new knowledge on rare diseases will have a significant impact on the improvement of quality of life and the treatment of these diseases.

The field of rare disease research includes areas focused on elucidating pathogenic mechanisms associated with rare diseases, clinical trials of novel drugs, and imaging of organs, structures and tumors. It also focuses on the understanding, diagnosis and treatment of genetic disorders.

Topics of interest include, but are not limited to genetics, gene expression, epidemiology, screening, diagnosis, prevention, treatment, health economics, regulatory issues and novel clinical findings.


Open access

All articles published in Advances in Rare Diseases are ‘open access,’ meaning that they are made freely and permanently accessible online immediately upon publication.

Authors of articles published in Advances in Rare Diseases are the copyright holders of their articles. However, the ‘open access’ policy implies that authors grant to any third party the right to use, reproduce or disseminate the article, provided that no substantive errors are introduced in the process, proper attribution of authorship and correct citation details are given, and that the bibliographic details are not modified. If the article is reproduced or disseminated in part, it must be clearly indicated.

Publication Charges

Authors are charged per Original and Review article and per Editorial or Commentary accepted for publication to defray the costs of publication (information is sent with the author’s proof).

However, there are no submission charges. Authors are required to make payment only after their manuscript has been accepted for publication.

   Manuscript Type

Article Processing Charges




Research Article, Review Article, Thesis




Case Report, Short Commentary, Clinical Image Article




Embargo Policy

All content information of an accepted paper is strictly confidential and cannot appear in the media (in print or electronic form) before its embargo date and time. Authors/researchers, their respective public relations representatives and funding sponsors may not distribute or promote their work to the media prior to embargo.

If an embargo break is the result of any action by an author/researcher, he/she risks withdrawal of publication of his/her manuscript. Violations of the embargo policy may also jeopardize future acceptance of manuscripts to be published in the journal.

Generally, embargoes on journal articles lift the day and the time the article is published.

Although the Editorial Office will endeavor to notify authors of the anticipated publication date/time, it will not be responsible for any consequences of early online posting with regard to the intellectual property rights. To safeguard their intellectual property, authors should ensure that appropriate reports of invention and patent applications have been filed before the manuscript is accepted.


Requests for permission to reproduce figures, tables or portions of articles originally published in Advances in Rare Diseases can be obtained via the Editorial Office.

Redundant Publication

Manuscripts submitted to Advances in Rare Diseases should conform to “Uniform Requirements for Manuscripts Submitted to Biomedical Journals” except if indicated otherwise in the instructions to authors.

Manuscripts submitted to Advances in Rare Diseases should not contain material previously published in other publications, except as an abstract, and must not be currently under consideration for publication in another journal. Redundant publication is publication of a paper that overlaps substantially with one already published. When submitting a paper, authors should make a full statement to the editor about all submissions and previous reports that might be regarded as redundant publication of the same or similar work.

The authors should alert the editor if the work includes subjects about whom a previous report has been published. Copies of such material should be included with the submitted paper to help the editor decide how to handle the matter. If redundant publication is attempted without such notification, authors should expect editorial action to be taken; at the least, the manuscript will be rejected.

Conflict-of-Interest Policy

Authors and referees are asked to declare any competing interests.

Original Contributions submitted by the editor-in-chief and any of the associate editors are handled by a Consulting Editor or by another editor, who makes all decisions about the manuscript (including choice of referees and ultimate acceptance or rejection).

The entire process is handled confidentially.

All manuscripts submitted from the Editor's home institution are also handled entirely by a Consulting Editor or by another editor from a different institution. The Editor (in Chief) and/or Associate Editors may additionally, from time to time, refer a manuscript to a Consulting Editor to avoid a real or reasonably perceived conflict of interest.

Ethics and Consent

Advances in Rare Diseases considers research and publication misconduct to be a serious breach of ethics, and will take such actions as necessary to address such misconduct. Authors should refer to the Committee on Publication Ethics (COPE) and the International Committee of Medical Journal Editors for full information.


Statements, opinions and results of studies published in Advances in Rare Diseases are those of the authors and do not reflect the policy or position of the journal.

Advances in Rare Diseases provides no warranty as to the articles' accuracy or reliability.

Article Archiving

Advances in Rare Diseases is pleased to announce that it has partnered with the CLOCKSS Archive and LOCKSS program to preserve its content in CLOCKSS's geographically and geopolitically distributed network of redundant archive nodes, located at 12 major research libraries around the world. This action provides for content to be freely available to everyone after a "trigger event" and ensures an author's work will be maximally accessible and useful over time. LOCKSS system has permission to collect, preserve, and serve this Archival Unit. CLOCKSS system has permission to ingest, preserve, and serve this Archival Unit.

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