Information for submissions, general requirements, and publication-specific guidelines (click here)
Journal Sections
Epidemiology and clinical research
This section aims to publish studies on patterns, causes, and effects of rare disease conditions, epidemiology of rare diseases and the use of public health interventions for their control. Possible topics include rare diseases surveillance, registries and biomonitoring, as well as safety and effectiveness of medications, devices, diagnostic products and treatment regimens intended for prevention, treatment, diagnosis or for relieving symptoms of rare diseases.
- Subsection Rare diseases epidemiology
- Subsection Clinical research and methodology
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
Prevention
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.
- Subsection Primary prevention, risk factor and screening
- Subsection Quality assurance (genetic testing, etc.)
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
Publication Categories
RARE Journal considers articles in the following categories. In the process of submission, authors should indicate the category under which they wish their paper to be considered. All submissions will be considered for peer-review prior to publication, with the exception of ‘Editorials’ and ‘Letters to the Editor’, which will be reviewed by the Editors-in-Chief only.
Original research articles
This type of publication reports the findings of original research. It may contain the results of empirical analysis, instrument development or policy analysis. They may be elaborated for proposed or ongoing research, and should provide a detailed account of the hypothesis, methodology and conclusion of the study. These papers can be up to 5 000 words long, excluding references, and may have up to 5 figures or tables and up to 50 references.
Systematic reviews and meta-analyses
This type of publication reports on reviews of empirical studies consistent with the methods of systematic review proposed by the Cochrane Collaboration. It identifies, appraises, selects and synthesises high quality research evidence relevant to one or more focus topics. It may present reviews of randomised controlled trials, observational studies, economic evaluations, outcomes research studies and preference-based assessments. These papers can be up to 6 000 words long, excluding references, and may have up to 5 figures or tables, no limit of references.
Review articles
This type of publication reports important rare diseases topics within the scope of the journal. They may reflect conceptual pieces or reviews of the literature. These papers can be up to 3 000 words long, excluding references, and may have up to 4 figures or tables.
Methodology articles
This type of publication reports on methodological issues in any of the topic areas within the rare diseases field. It presents a new experimental or computational method, test or procedure (e.g., epidemiological methods, survey methods and health impact assessment methods). The method described may either be completely new, or may offer a better version of an existing method. It can include data if these are required to illustrate the importance of particular methodological points. These papers can be up to 2 000 words, excluding references, and may have up to 3 figures or tables and up to 20 references.
Case reports
This type of publication reports on empirical research outcomes with a more narrow focus than original research articles and generally a single aim. It usually represents a description of new or unusual events, relating to a clinical condition, association, reaction, treatment, etc, in one or more patients that can advance basic comprehension of a medical condition, increase scientific knowledge, or draw proposals for further investigation. It is one of the most common epidemiological tools for studying rare diseases and rare forms of common disorders. These papers can be up to 2 000 words, excluding references, and may have up to 2 figures or tables and up to 20 references.
Letters to the Editors
This type of publication represents a short communication allowing quick feedback or comments from the Journal’s readership. It may offer substantial re-analysis or a brief report of research findings that are relevant for a specific article, published in RARE Journal. The letters to Editors are accepted for consideration and publication only in a 30-day period after the concerned material has been published. In instances where the letter contains a critique of a published paper, the authors will be given the right to reply. These papers can be up to 1 000 words, 1 table or 1 figure, 10 references.
Editorials
Editorials are commissioned by the Editorial Board and report on issues of current interest in the field of rare diseases. It covers an aspect of an issue that is relevant to the RARE Journal’s scope. Examples of this type of commentary could be a discussion of the impact of new technology on research and treatment, or a discussion of changes in peer review or grant application procedures and their effect on research. These papers can be up to 1 000 words long, but may be longer, with agreement from the Editors.
Publication Topic Areas
RARE Journal particularly welcomes articles in the following rare diseases topic areas:
Reports of clinical practice guidelines
- this type of publication represents a summary of evidence-based clinical practice guidelines that are issued by health organisations, scientific societies, academic institutions, patient advocacy groups, etc. Maximum volume of 5 000 – 6 000 words, 5 tables and figures in total, no limit for references.
Reports of health technology assessment (HTA)
- this type of publication presents summarized results of the examination process of medical, economic, social and ethical implications of the incremental value, diffusion and use of a medical technology in healthcare. Such reports support management, clinical, and policy decisions by providing scientifically rigorous tools to address a focused policy question. Maximum volume of 4 000 words, 7 tables and figures in total, no limit of references.
Reports of epidemiological registries
- this type of publication presents summarized results and conclusions of epidemiological registries for rare diseases. These reports are an important source of information for medical professionals, healthcare providers and public health officials. Epidemiological registries reports are useful for preventing and controlling rare diseases and improving treatment and patient care. Data from these publications may share and compare prevalence and incidence rates, describe disease patterns in the population, and discuss planning programmes for people affected with rare diseases. Maximum volume of 4 000 words, 7 tables and figures in total, 25 references.
Meeting and project reports
- this type of publication aims to improve visibility and increase dissemination of specific events and activities. It encourages to present scientific and public health initiatives that may be important for specific segments of Journal’s readership. A meeting or project reports generally features communication details, progress update, specific conclusions, expertise and advice. Meeting reports are accepted for consideration and publication only in a 30-day period after the concerned event has took place, while project reports – in a 3-month period after the concerned project’s closure. A meeting report can be only submitted by meeting organisers, while project reports should be submitted by project coordinator. Both authors are encouraged to contact the Editors-in-Chief with proposals for such publications. Maximum volume of 1 500 words, 1 table or 1 figure, 10 references.