1. Scope of Articles

Intractable & Rare Diseases Research (Print ISSN 2186-3644, Online ISSN 2186-361X) is an international peer-reviewed journal. Intractable & Rare Diseases Research devotes to publishing the latest and most significant research in intractable and rare diseases. Articles cover all aspects of intractable and rare diseases research such as molecular biology, genetics, clinical diagnosis, prevention and treatment, epidemiology, health economics, health management, medical care system, and social science in order to encourage cooperation and exchange among scientists and clinical researchers.

2. Submission Types

Original Articles should be well-documented, novel, and significant to the field as a whole. An Original Article should be arranged into the following sections: Title page, Abstract, Introduction, Materials and Methods, Results, Discussion, Acknowledgments, and References. Original articles should not exceed 5,000 words in length (excluding references) and should be limited to a maximum of 50 references. Articles may contain a maximum of 10 figures and/or tables. Supplementary Data are permitted but should be limited to information that is not essential to the general understanding of the research presented in the main text, such as unaltered blots and source data as well as other file types.

Brief Reports definitively documenting either experimental results or informative clinical observations will be considered for publication in this category. Brief Reports are not intended for publication of incomplete or preliminary findings. Brief Reports should not exceed 3,000 words in length (excluding references) and should be limited to a maximum of 4 figures and/or tables and 30 references. A Brief Report contains the same sections as an Original Article, but the Results and Discussion sections should be combined.

Reviews should present a full and up-to-date account of recent developments within an area of research. Normally, reviews should not exceed 8,000 words in length (excluding references) and should be limited to a maximum of a maximum of 10 figures and/or tables and 100 references. Mini reviews are also accepted, which should not exceed 4,000 words in length (excluding references) and should be limited to a maximum of 5 figures and/or tables and 50 references.

Policy Forum articles discuss research and policy issues in areas related to life science such as public health, the medical care system, and social science and may address governmental issues at district, national, and international levels of discourse. Policy Forum articles should not exceed 3,000 words in length (excluding references) and should be limited to a maximum of 5 figures and/or tables and 30 references.

Communications are short, timely pieces that spotlight new research findings or policy issues of interest to the field of global health and medical practice that are of immediate importance. Depending on their content, Communications will be published as “Comments” or “Correspondence”. Communications should not exceed 1,500 words in length (excluding references) and should be limited to a maximum of 2 figures and/or tables and 20 references.

Editorials are short, invited opinion pieces that discuss an issue of immediate importance to the fields of global health, medical practice, and basic science oriented for clinical application. Editorials should not exceed 1,000 words in length (excluding references) and should be limited to a maximum of 10 references. Editorials may contain one figure or table.

News articles should report the latest events in health sciences and medical research from around the world. News should not exceed 500 words in length.

Letters should present considered opinions in response to articles published in Intractable & Rare Diseases Research in the last 6 months or issues of general interest. Summaries of research results and sharing of experiences in clinical practice and basic research (findings based on case reports, clinical pictures, etc.) can also be published as Letters. Letters should not exceed 800 words in length and may contain a maximum of 10 references. Letters may contain one figure or table.

3. Editorial Policies

For publishing and ethical standards, Intractable & Rare Diseases Research follows the Recommendations for the Conduct, Reporting, Editing, and Publication of Scholarly Work in Medical Journals issued by the International Committee of Medical Journal Editors (ICMJE, https://icmje.org/recommendations), and the Principles of Transparency and Best Practice in Scholarly Publishing jointly issued by the Committee on Publication Ethics (COPE, https://publicationethics.org/resources/guidelines-new/principles-transparency-and-best-practice-scholarly-publishing), the Directory of Open Access Journals (DOAJ, https://doaj.org/apply/transparency), the Open Access Scholarly Publishers Association (OASPA, https://oaspa.org/principles-of-transparency-and-best-practice-in-scholarly-publishing-4), and the World Association of Medical Editors (WAME, https://wame.org/principles-of-transparency-and-best-practice-in-scholarly-publishing).

Intractable & Rare Diseases Research will perform an especially prompt review to encourage innovative work. All original research will be subjected to a rigorous standard of peer review and will be edited by experienced copy editors to the highest standards.

Ethical Approval of Studies and Informed Consent: For all manuscripts reporting data from studies involving human participants or animals, formal review and approval, or formal review and waiver, by an appropriate institutional review board or ethics committee is required and should be described in the Methods section. When your manuscript contains any case details, personal information and/or images of patients or other individuals, authors must obtain appropriate written consent, permission and release in order to comply with all applicable laws and regulations concerning privacy and/or security of personal information. The consent form needs to comply with the relevant legal requirements of your particular jurisdiction, and please do not send signed consent form to Intractable & Rare Diseases Research to respect your patient’s and any other individual’s privacy. Please instead describe the information clearly in the Methods (patient consent) section of your manuscript while retaining copies of the signed forms in the event they should be needed. Authors should also state that the study conformed to the provisions of the Declaration of Helsinki (as revised in 2013, https://wma.net/what-we-do/medical-ethics/declaration-of-helsinki). When reporting experiments on animals, authors should indicate whether the institutional and national guide for the care and use of laboratory animals was followed.

Reporting Clinical Trials: The ICMJE (https://icmje.org/recommendations/browse/publishing-and-editorial-issues/clinical-trial-registration.html) defines a clinical trial as any research project that prospectively assigns people or a group of people to an intervention, with or without concurrent comparison or control groups, to study the relationship between a health-related intervention and a health outcome. Registration of clinical trials in a public trial registry at or before the time of first patient enrollment is a condition of consideration for publication in Intractable & Rare Diseases Research, and the trial registration number will be published at the end of the Abstract. The registry must be independent of for-profit interest and publicly accessible. Reports of trials must conform to CONSORT 2010 guidelines (https://consort-statement.org/consort-2010). Articles reporting the results of randomized trials must include the CONSORT flow diagram showing the progress of patients throughout the trial.

Conflict of Interest: All authors are required to disclose any actual or potential conflict of interest including financial interests or relationships with other people or organizations that might raise questions of bias in the work reported. If no conflict of interest exists for each author, please state "There is no conflict of interest to disclose".

Submission Declaration: When a manuscript is considered for submission to Intractable & Rare Diseases Research, the authors should confirm that 1) no part of this manuscript is currently under consideration for publication elsewhere; 2) this manuscript does not contain the same information in whole or in part as manuscripts that have been published, accepted, or are under review elsewhere, except in the form of an abstract, a letter to the editor, or part of a published lecture or academic thesis; 3) authorization for publication has been obtained from the authors' employer or institution; and 4) all contributing authors have agreed to submit this manuscript.

Initial Editorial Check: Immediately after submission, the journal’s managing editor will perform an initial check of the manuscript. A suitable academic editor will be notified of the submission and invited to check the manuscript and recommend reviewers. Academic editors will check for plagiarism and duplicate publication at this stage. The journal has a formal recusal process in place to help manage potential conflicts of interest of editors. In the event that an editor has a conflict of interest with a submitted manuscript or with the authors, the manuscript, review, and editorial decisions are managed by another designated editor without a conflict of interest related to the manuscript.

Peer Review: Intractable & Rare Diseases Research operates a single-anonymized review process, which means that reviewers know the names of the authors, but the authors do not know who reviewed their manuscript. All articles are evaluated objectively based on academic content. External peer review of research articles is performed by at least two reviewers, and sometimes the opinions of more reviewers are sought. Peer reviewers are selected based on their expertise and ability to provide quality, constructive, and fair reviews. For research manuscripts, the editors may, in addition, seek the opinion of a statistical reviewer. Every reviewer is expected to evaluate the manuscript in a timely, transparent, and ethical manner, following the COPE guidelines (https://publicationethics.org/files/cope-ethical-guidelines-peer-reviewers-v2_0.pdf). We ask authors for sufficient revisions (with a second round of peer review, when necessary) before a final decision is made. Consideration for publication is based on the article’s originality, novelty, and scientific soundness, and the appropriateness of its analysis.

Suggested Reviewers: A list of up to 3 reviewers who are qualified to assess the scientific merit of the study is welcomed. Reviewer information including names, affiliations, addresses, and e-mail should be provided at the same time the manuscript is submitted online. Please do not suggest reviewers with known conflicts of interest, including participants or anyone with a stake in the proposed research; anyone from the same institution; former students, advisors, or research collaborators (within the last three years); or close personal contacts. Please note that the Editor-in-Chief may accept one or more of the proposed reviewers or may request a review by other qualified persons.

Language Editing: Manuscripts prepared by authors whose native language is not English should have their work proofread by a native English speaker before submission. If not, this might delay the publication of your manuscript in Intractable & Rare Diseases Research.

The Editing Support Organization can provide English proofreading, Japanese-English translation, and Chinese-English translation services to authors who want to publish in Intractable & Rare Diseases Research and need assistance before submitting a manuscript. Authors can visit this organization directly at https://www.iacmhr.com/iac-eso/support.php?lang=en. IAC-ESO was established to facilitate manuscript preparation by researchers whose native language is not English and to help edit works intended for international academic journals.

Copyright and Reuse: Before a manuscript is accepted for publication in Intractable & Rare Diseases Research, authors will be asked to sign a transfer of copyright agreement, which recognizes the common interest that both the journal and author(s) have in the protection of copyright. We accept that some authors (e.g., government employees in some countries) are unable to transfer copyright. A JOURNAL PUBLISHING AGREEMENT (JPA) form will be e-mailed to the authors by the Editorial Office and must be returned by the authors by mail, fax, or as a scan. Only forms with a hand-written signature from the corresponding author are accepted. This copyright will ensure the widest possible dissemination of information. Please note that the manuscript will not proceed to the next step in publication until the JPA Form is received. In addition, if excerpts from other copyrighted works are included, the author(s) must obtain written permission from the copyright owners and credit the source(s) in the article.

4. Cover Letter

The manuscript must be accompanied by a cover letter prepared by the corresponding author on behalf of all authors. The letter should indicate the basic findings of the work and their significance. The letter should also include a statement affirming that all authors concur with the submission and that the material submitted for publication has not been published previously or is not under consideration for publication elsewhere. The cover letter should be submitted in PDF format. For an example of Cover Letter, please visit: (Download Centre)

5. Submission Checklist

The Submission Checklist should be submitted when submitting a manuscript through the Online Submission System. Please visit Download Centre and download the Submission Checklist file. We recommend that authors use this checklist when preparing your manuscript to check that all the necessary information is included in your article (if applicable), especially with regard to Ethics Statements.

6. Manuscript Preparation

Manuscripts are suggested to be prepared in accordance with the "Recommendations for the Conduct, Reporting, Editing, and Publication of Scholarly Work in Medical Journals", as presented at https://www.ICMJE.org.

Manuscripts should be written in clear, grammatically correct English and submitted as a Microsoft Word file in a single-column format. Manuscripts must be paginated and typed in 12-point Times New Roman font with 24-point line spacing. Please do not embed figures in the text. Abbreviations should be used as little as possible and should be explained at first mention unless the term is a well-known abbreviation (e.g. DNA). Single words should not be abbreviated.

Title page: The title page must include 1) the title of the paper (Please note the title should be short, informative, and contain the major key words); 2) full name(s) and affiliation(s) of the author(s), 3) abbreviated names of the author(s), 4) full name, mailing address, telephone/fax numbers, and e-mail address of the corresponding author; 5) author contribution statements to specify the individual contributions of all authors to this manuscript, and 6) conflicts of interest (if you have an actual or potential conflict of interest to disclose, it must be included as a footnote on the title page of the manuscript; if no conflict of interest exists for each author, please state "There is no conflict of interest to disclose").

Abstract: The abstract should briefly state the purpose of the study, methods, main findings, and conclusions. For articles that are Original Articles, Brief Reports, Reviews, or Policy Forum articles, a one-paragraph abstract consisting of no more than 250 words must be included in the manuscript. For Communications, Editorials, News, or Letters, a brief summary of main content in 150 words or fewer should be included in the manuscript. For articles reporting clinical trials, the trial registration number should be stated at the end of the Abstract. Abbreviations must be kept to a minimum and non-standard abbreviations explained in brackets at first mention. References should be avoided in the abstract. Three to six key words or phrases that do not occur in the title should be included in the Abstract page.

Introduction: The introduction should provide sufficient background information to make the article intelligible to readers in other disciplines and sufficient context clarifying the significance of the experimental findings.

Materials/Patients and Methods: The description should be brief but with sufficient detail to enable others to reproduce the experiments. Procedures that have been published previously should not be described in detail but appropriate references should simply be cited. Only new and significant modifications of previously published procedures require complete description. Names of products and manufacturers with their locations (city and state/country) should be given and sources of animals and cell lines should always be indicated. All clinical investigations must have been conducted in accordance with the Declaration of Helsinki (as revised in 2013, https://wma.net/what-we-do/medical-ethics/declaration-of-helsinki). All human and animal studies must have been approved by the appropriate institutional review board(s) and a specific declaration of approval must be made within this section.

Results: The description of the experimental results should be succinct but in sufficient detail to allow the experiments to be analyzed and interpreted by an independent reader. If necessary, subheadings may be used for an orderly presentation. All Figures and Tables should be referred to in the text in order, including those in the Supplementary Data.

Discussion: The data should be interpreted concisely without repeating material already presented in the Results section. Speculation is permissible, but it must be well-founded, and discussion of the wider implications of the findings is encouraged. Conclusions derived from the study should be included in this section.

Acknowledgments: All funding sources (including grant identification) should be credited in the Acknowledgments section. Authors should also describe the role of the study sponsor(s), if any, in study design; in the collection, analysis, and interpretation of data; in the writing of the report; and in the decision to submit the paper for publication. If the funding source had no such involvement, the authors should so state.

In addition, people who contributed to the work but who do not meet the criteria for authors should be listed along with their contributions.

References: References should be numbered in the order in which they appear in the text. Citing of unpublished results, personal communications, conference abstracts, and theses in the reference list is not recommended but these sources may be mentioned in the text. In the reference list, cite the names of all authors when there are fifteen or fewer authors; if there are sixteen or more authors, list the first three followed by et al. Names of journals should be abbreviated in the style used in PubMed. Authors are responsible for the accuracy of the references. The EndNote Style of Intractable & Rare Diseases Research could be downloaded at

Examples are given below:

Example 1 (Sample journal reference):

Inagaki Y, Tang W, Zhang L, Du GH, Xu WF, Kokudo N. Novel aminopeptidase N (APN/CD13) inhibitor 24F can suppress invasion of hepatocellular carcinoma cells as well as angiogenesis. Biosci Trends. 2010; 4:56-60.

Example 2 (Sample journal reference with more than 15 authors):

Darby S, Hill D, Auvinen A, et al. Radon in homes and risk of lung cancer: Collaborative analysis of individual data from 13 European case-control studies. BMJ. 2005; 330:223.

Example 3 (Sample book reference):

Shalev AY. Post-traumatic stress disorder: Diagnosis, history and life course. In: Post-traumatic Stress Disorder, Diagnosis, Management and Treatment (Nutt DJ, Davidson JR, Zohar J, eds.). Martin Dunitz, London, UK, 2000; pp. 1-15.

Example 4 (Sample web page reference):

World Health Organization. The World Health Report 2008 – primary health care: Now more than ever. https://apps.who.int/iris/handle/10665/43949 (accessed September 23, 2022).

Tables: All tables should be prepared in Microsoft Word or Excel and should be arranged at the end of the manuscript after the References section. Please note that tables should not in image format. All tables should have a concise title and should be numbered consecutively with Arabic numerals. If necessary, additional information should be given below the table.

Figure Legend: The figure legend should be typed on a separate page of the main manuscript and should include a short title and explanation. The legend should be concise but comprehensive and should be understood without referring to the text. Symbols used in figures must be explained. Any individually labeled figure parts or panels (A, B, etc.) should be specifically described by part name within the legend.

Figure Preparation: All figures should be clear and cited in numerical order in the text. Figures must fit a one- or two-column format on the journal page: 8.3 cm (3.3 in.) wide for a single column, 17.3 cm (6.8 in.) wide for a double column; maximum height: 24.0 cm (9.5 in.). Please make sure that the symbols and numbers appeared in the figures should be clear. Please make sure that artwork files are in an acceptable format (TIFF or JPEG) at minimum resolution (600 dpi for illustrations, graphs, and annotated artwork, and 300 dpi for micrographs and photographs). Please provide all figures as separate files. Please note that low-resolution images are one of the leading causes of article resubmission and schedule delays.

Units and Symbols: Units and symbols conforming to the International System of Units (SI) should be used for physicochemical quantities. Solidus notation (e.g. mg/kg, mg/mL, mol/mm2/min) should be used. Please refer to the SI Guide www.bipm.org/en/si/ for standard units.

Supplemental data: Supplemental data might be useful for supporting and enhancing your scientific research and Intractable & Rare Diseases Research accepts the submission of these materials which will be only published online alongside the electronic version of your article. Supplemental files (figures, tables, and other text materials) should be prepared according to the above guidelines, numbered in Arabic numerals (e.g., Figure S1, Figure S2, and Table S1, Table S2) and referred to in the text. All figures and tables should have titles and legends. All figure legends, tables and supplemental text materials should be placed at the end of the paper. Please note all of these supplemental data should be provided at the time of initial submission and note that the editors reserve the right to limit the size and length of Supplemental Data.

7. Online Submission

Manuscripts should be submitted to Intractable & Rare Diseases Research online at https://www.irdrjournal.com/login. Receipt of your manuscripts submitted online will be acknowledged by an e-mail from Editorial Office containing a reference number, which should be used in all future communications. If for any reason you are unable to submit a file online, please contact the Editorial Office by e-mail at office@irdrjournal.com

8. Accepted Manuscripts

Proofs: Galley proofs in PDF format will be sent to the corresponding author via e-mail. Corrections must be returned to the editor (office@irdrjournal.com) within 3 working days.

Offprints: Authors will be provided with electronic offprints of their article. Paper offprints can be ordered at prices quoted on the order form that accompanies the proofs.

Page Charge: Page charges will be levied on all manuscripts accepted for publication in Intractable & Rare Diseases Research (Original Articles / Brief Reports / Reviews / Policy Forum / Communications: $140 per page for black white pages, $340 per page for color pages; News / Letters: a total cost of $600). Under exceptional circumstances, the author(s) may apply to the editorial office for a waiver of the publication charges by stating the reason in the Cover Letter when submitting the manuscript online.

Misconduct: Intractable & Rare Diseases Research takes seriously all allegations of potential misconduct and adhere to the ICMJE Guideline (https://www.icmje.org/recommendations) and COPE Guideline (https://publicationethics.org/files/Code_of_conduct_for_journal_editors.pdf). In cases of suspected research or publication misconduct, it may be necessary for the Editor or Publisher to contact and share submission details with third parties including authors’ institutions and ethics committees. The corrections, retractions, or editorial expressions of concern will be performed in line with above guidelines.

(As of September 2023)

Intractable & Rare Diseases Research


Editorial and Head Office

Pearl City Koishikawa 603
2-4-5 Kasuga, Bunkyo-ku
Tokyo 112-0003