Having published over 5000 original articles, case reports, editorials, multimedia and scientific presentations in rare diseases, the Orphanet journal of rare diseases is a highly regarded resource for physicians and clinicians worldwide. This publication is open access and features a single-blind peer review system.
Open access policy
Several rare diseases present challenges for patients and healthcare professionals. These include lack of access to effective treatments, poor mental and physical abilities, and high costs of care.
To improve the treatment of rare diseases, there is a need for coordinated efforts. Patient organisations play a key role in this process. They provide an active presence for the rare disease community and contribute to policy decisions. In addition, they provide a platform for collaboration and innovation.
Orphanet is a database of rare diseases that provides expert-validated information about rare diseases in 37 countries. The database includes 77 regional and 446 national disease registries. It also contains 5700 ongoing research projects for about 2100 rare diseases.
Orphanet is funded by the European Commission with support from Member States. It is a resource for the rare disease community that is supported by a network of national partner teams. It has been in operation since 1997. Its purpose is to provide access to expert-validated information about rare diseases and orphan drugs. It includes clinical laboratories, biobanks, and registries. It also maintains an inventory of orphan drugs.
Single-blind peer-review system
Whether you are an author, reviewer, or an editor, you have probably been exposed to the single-blind peer-review system. It is the ideal form of peer review because it allows for a completely honest assessment of a manuscript without the influence of the author. This system is especially helpful when the subject of the paper is a rare disease.
The first thing you will notice about the single-blind peer-review method is that it eliminates the problem of identifying the author of a paper. This is due to the fact that the reviewer does not know who the author is In particular, the single-blind peer-review model gives an advantage to well-known authors, whose papers may receive higher marks. The reviewer can also make better judgments about the quality of the paper based on the author’s previous research.
The other interesting fact about this form of peer review is that it is not always the most effective way of assessing a manuscript. Studies show that women and minorities are not as likely to get published. Furthermore, the single-blind peer-review process might disadvantage non-prestigious institutions.
Multimedia articles
Among the many multimedia articles vying for space in the Orphanet Journal of Rare Diseases, it’s difficult to pick one out from the rest. As the name suggests, this e-journal is primarily devoted to the latest developments in clinical, health economics and social care for patients with rare diseases. Moreover, the site’s editorial staff is a slew of top-notch researchers. Considering this fact, the journal has been dubbed as one of the best medical journals in the UK. Moreover, the site has a waiver policy for article processing charges. Despite the hefty stipulation, authors can still enjoy the fruits of their labor.
The site’s nifty list of e-articles is divided into categories based on the country of origin. For example, the United States has 14 papers, whereas Europe is represented by seven. However, while each nation is a standout in its own right, a more comprehensive listing could have saved readers time and effort.
In the grand scheme of things, the Orphanet Journal of Rare Diseases is by no means a clone of any other journal. However, a closer examination of the site’s content will glean a few gems. Using the aforementioned search engine, one can troll the teeming list of multimedia articles to find the most relevant and useful information. In the process, they might find an article that will help them improve their health status and quality of life.
Case reports and editorials
During the last century, case reports have played an important role in diagnosis, management, and treatment of rare diseases. They have provided information about a variety of syndromes, including the full characterization of the underlying pathology. They also have been a key source of evidence in the development of treatments.
However, the value of case reports is now being debated. In some cases, the number of reports has declined, especially in prominent journals. Others have argued that excluding case reports from systematic reviews of rare diseases has an adverse impact on the research, particularly when novelties are proposed. This may lead to a less useful review for clinical practice.
Other studies have found that case reports play an important role in evaluating proposals for new interventions. In fact, the authors of a study of 64 case reports published in the Lancet in 1995/1996 observed that nine of the proposed novelties were included in follow-up studies.
While the numbers of case reports published by prominent journals are decreasing, case reports are still widely used in the field of rare disease research. Often, they are the first line of evidence in the development of a clinical study. They also provide a comprehensive summary of the state of the research.
