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.

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.

Case Reports should be detailed reports of the symptoms, signs, diagnosis, treatment, and follow-up of an individual patient. Case reports may contain a demographic profile of the patient but usually describe an unusual or novel occurrence. Unreported or unusual side effects or adverse interactions involving medications will also be considered. Case Reports 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. Letters should not exceed 800 words in length and may contain a maximum of 10 references. Letters may contain one figure or table.

Ethics: Intractable & Rare Diseases Research requires that authors of reports of investigations in humans or animals indicate that those studies were formally approved by a relevant ethics committee or review board.

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.

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 example of Cover Letter, please visit: (Download Centre)

Copyright: Before a manuscript is accepted for publication in Intractable & Rare Diseases Research, the transfer of copyright is necessary. A JOURNAL PUBLISHING AGREEMENT (JPA) form will be e-mailed to the authors by the Editorial Office and must be returned by the authors as a scan. Only forms with a hand-written signature are accepted. This copyright will ensure the widest possible dissemination of information. Please note that your 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.

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 http://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.

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 http://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; and 5) 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"). Please visit Download Centre and refer to the title page of the manuscript sample.

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, Policy Forum articles, or Case Report, 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. 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 be a concise statement of the basis for the study and its scientific context.

Materials 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 Declaration of Helsinki principles. 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 must be referred to in the text.

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 should be credited in the Acknowledgments section. 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:

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.

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.

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.

World Health Organization. The World Health Report 2008 – primary health care: Now more than ever. http://www.who.int/whr/2008/whr08_en.pdf (accessed September 23, 2010).

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.

The Submission Checklist will be useful during the final checking of a manuscript prior to sending it to Intractable & Rare Diseases Research for review. Please visit Download Centre and download the Submission Checklist file.

Manuscripts should be submitted to Intractable & Rare Diseases Research online at https://www.irdrjournal.com. The manuscript file should be smaller than 5 MB in size. If for any reason you are unable to submit a file online, please contact the Editorial Office by e-mail at office@irdrjournal.com

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: No page charges will be levied to authors for the publication of their article except for reprints.

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