Orphanet Journal of Rare Diseases

Orphanet journal of rare diseases is a peer-reviewed publication encompassing all aspects of rare diseases and orphan drugs. It publishes high quality reviews as well as clinical trial outcome reports and public health issues pertaining to these conditions.

This journal’s ISO 4 standard abbreviation is “Orphanet J. Rare Dis.” This abbreviation meets all essential criteria and is recommended by the ISO 4 standard for abbreviating names of scientific journals.

Open Access

Orphanet journal of rare diseases is an open access, peer reviewed online journal that covers all aspects of rare diseases. It features research papers, review articles, case reports, experimental techniques, clinical studies, registries and orphan drugs as well as case reports from around the world.

Orphan diseases refer to medical conditions that affect fewer than 200,000 people and often have genetic causes. They are classified as rare diseases (RDs) in Europe.

Many universities, research institutions and funders are adopting policies requiring their researchers to make their publications open access. This movement stems from the belief that knowledge derived from public funding should be accessible to everyone without copyright or licensing restrictions.

Gold open access (OA) refers to journal articles that are free and openly accessible to anyone, anywhere in the world at no charge. Some journals offer both gold and subscription content in an amalgamated model.

Peer Review

Peer review is the process by which academic researchers assess each other’s research papers for quality and accuracy before they are published. It can be likened to journalists proofreading each other’s articles or engineers verifying each other’s calculations and measurements.

Peer review is often criticised for a variety of reasons, yet it remains an integral component of scientific inquiry. It ensures that important knowledge is made widely accessible to the public.

Peer review is a time-tested system used by numerous prestigious journals and known to significantly reduce rejected papers.

Editorial Board

The editorial board to orphanet journal of rare diseases consists of international experts with deep expertise and experience in this field. They are dedicated to upholding the high standard of the journal and guaranteeing that each manuscript undergoes rigorous peer review for approval.

They are especially interested in publishing papers that address scientific advances related to rare diseases and genetic disorders, including their molecular basis, pathogenesis and clinical application. Furthermore, they wish to provide a forum for discussion around rare diseases and orphan drugs.

The success of a rare disease journal depends on the calibre of its Editorial Board. As such, selecting an Editorial Board with appropriate expertise and an in-depth knowledge about rare diseases and their treatment is paramount for success.

Formats

Orphanet Journal of Rare Diseases is the official journal of Orphanet, Europe’s premier portal for rare diseases and orphan drugs, focused on publishing cutting-edge research in this field. It seeks to publish high quality review articles encompassing diagnosis, clinical description, management strategies as well as aetiopathogenesis*, *epidemiology* and genetic counselling related to rare diseases.

The journal publishes short communications, which are research articles outlining new ideas, recent advances and key points that will have a major impact on the field of rare diseases. They typically contain 4,000 words and include an abstract, introduction, materials and methods section, results section, discussion section, references list as well as figure legends.

Copyright

Orphanet journal of rare diseases is an open access medical journal dedicated to researching rare diseases. Published by BioMed Central Ltd. (United Kingdom), a subsidiary of Springer Nature, Orphanet serves as an advocate for research into these conditions.

At BioMed Central, the author(s) retain ownership of all articles published. These works are made available under a Creative Commons Attribution License 4.0 which grants anyone permission to copy, distribute and transmit the article provided they credit the original author  

Orphanet journals publish review articles on specific rare diseases to foster understanding among healthcare professionals and patients. These reviews often draw upon expert opinion, require considerable time, energy, and resources – making them invaluable resources for many patients, particularly those suffering from extremely rare ailments.