Journal of Rare Disorders: Diagnosis & Therapy focus on topics related to Muscular Distropy, Chromosomal Abnormalities, Sickle Cell Anemia, Cystic Fibrosis, Orphan Diseases, Endocrine Disorders, Skin Disorders, etc.
Authors could submit their manuscript through online at
or as an email attachment to the [email protected]
The writing style should be concise and accessible, avoiding jargon so that the paper is understandable for readers outside a specialty or those whose first language is not English. Editors will make suggestions for how to achieve this, as well as suggestions for cuts or additions that could be made to the article to strengthen the argument. Our aim is to make the editorial process rigorous and consistent, but not intrusive or overbearing. Authors are encouraged to use their own voice and to decide how best to present their ideas, results, and conclusions. Although we encourage submissions from around the globe, we require that manuscripts be submitted in English. Authors who do not use English as a first language may contact us for additional information. As a step towards overcoming language barriers on acceptance of the paper, we encourage authors fluent in other languages to provide copies of their full articles or abstracts in other languages. We will publish these translations as supporting information and list them, together with other supporting information files, at the end of the article text.
Article Processing Charges (APC):
Publishing with open access is not without costs. Journal of Rare Disorders: Diagnosis & Therapy defrays those costs from article-processing charges (APCs) payable by authors onces the manuscript has been accepted for publication. Journal of Rare Disorders: Diagnosis & Therapy does not have subscription charges for its research content, believing instead that immediate, world-wide, barrier-free, open access to the full text of research articles is in the best interests of the scientific community.
Average Article processing time (APT) is 45 days
Organization of the Manuscript
Manuscripts should be prepared according to the "ICMJE: Uniform Requirements for Manuscripts Submitted to Biomedical Journals" (Ann Intern Med. 1997;126:36-47) as outlined below.
The manuscript, as well as all subsequent revised versions, should be submitted in an unique file arranged as follow: Title page, Abstract (if required), Text, References, Tables, Figure legends, and Figures/Images. Please do not submit this material as supplementary files, therefore figures/images and tables must be inserted inside the manuscript file after the Reference list.
Authors who publish in Journal of Rare Disorders: Diagnosis & Therapy can make their source data, reports of statistical analysis, as well as any other materials that they judge important, freely available to the scientific community.
Source data. Journal of Rare Disorders: Diagnosis & Therapy strongly invites authors to supply the database of all cases and variables described in the article to be published together with the manuscript.
The database may consist of one or more files. Files should be provided in Microsoft Excel 97 (or later); however, other commonly used database formats may be accepted. The authors must provide a detailed list of the entire set of variables, reporting their names, descriptions (according to the text of the manuscript), and coded values. A form in Microsoft Word named DATA00.DOC is available on-line and may be used for this purpose.
Statistical reports. The original statistical outputs, reporting the entire set of statistics described in the article, may also be published. The statistics must be reported consecutively, following the order in which they appear within the text. One or more files may be provided. The format of files should be: Microsoft Word, hypertext (.html), or ASCII text. The original files produced by the statistical package used by the authors cannot be accepted if they are in a format different from the ones mentioned above; in that case authors must export/convert them according to the instructions above.
Other materials. Any other supplementary materials that the authors judge important in order to improve the knowledge of their results can be made freely available to the scientific community. The format of the files must be readable by commonly used software.
Provide source data, reports of statistical analysis, and other materials as “Supplementary files”. A file containing the detailed description of the supplementary materials must be also provided.
The title page should be placed at the beginning of the manuscript.
Provide a concise title. List the full names of the author(s) and indicate the institutional affiliation (if more than one institution is involved, indicate individual affiliation by means of a superscript Arabic number). List 3 to 10 key-words (they must be terms from the medical subject headings - MeSH - list of the Index Medicus: PubMed MeSH Browser). List nonstandard abbreviations used, with their expansions, in alphabetical order. Acknowledge personal assistance and providers of special reagents and list grants and other financial support. Complete institution, address, telephone and fax numbers, as well as e-mail address, of the corresponding author should appear in the title page.
Authors must state explicitly whether potential conflicts do or do not exist. Authors should do so in the manuscript in a conflict-of-interest notification statement in the title page, providing additional detail, if necessary, in a cover letter that accompanies the manuscript submission.
The text should be strucured according to the instructions reported below.
The use of nonstandard abbreviations is discouraged. Non-standard abbreviations may be used when a term is frequently used. In this case, the abbreviation should be spelled out, in parentheses, in its first use in the text and also listed in the title page. Abbreviations used in Figures or Tables should be defined in the legend.
SI units are not compulsory.
Drugs and chemicals should be used by generic name. If trademarks are mentioned, the manufacturer's name, city, and country should be given.
Text should be structured in the following way: Abstract, Introduction, Methods, Ethics, Statistics, Results, and Discussion.
Abstract: It should be structured. In 250 words or less; state: Context, Objective, Design, Setting, Patients or participants, Interventions, Main outcome measures, Results, and Conclusions. Do not use nonstandard abbreviations, footnotes or references.
Introduction: Summarize the rationale for the study and state the purpose of the article.
Methods: Describe your selection of the observational or experimental subjects (including controls). Identify the methods, apparatus, and procedures in sufficient detail to allow other workers to reproduce the results. Precisely identify all drugs and chemical used. Reports of randomized trials should present information on all major study elements including the protocol, assignment of intervention, and the method of masking.
Ethics: Manuscripts reporting data obtained from research conducted in human subjects must include a statement of assurance in the methods section that written or oral informed consent was obtained from each patient and the study protocol conforms to the ethical guidelines of the "World Medical Association Declaration of Helsinki - Ethical Principles for Medical Research Involving Human Subjects" adopted by the 18th WMA General Assembly, Helsinki, Finland, June 1964 and amended by the 59th WMA General Assembly, Seoul, South Korea, October 2008, as reflected in a priori approval by the appropriate institutional review committee. In studies involving animal experimentation, provide in this section assurance that all animals received humane care according to the criteria outlined in the "Guide for the Care and Use of Laboratory Animals (1996)" prepared by the National Academy of Sciences.
Statistics: Describe statistical methods with enough detail to enable a knowledgeable reader with access the original data to verify the reported results. Quantify findings with appropriate indicators of uncertainty (SD, SEM, 95% CI, range, n-tiles, etc). Give the numbers of observations and report losses to observation. The exact P values (3 digits) must be given for all the statistical evaluations made.
Results: Report your results in a logical sequence in the text, tables, and illustrations. Do not duplicate data in graphs or tables. Emphasize only very important observations. Show percentage values with 1-decimal digit. Report the reference range of any laboratory data.
Discussion: Emphasize the new and important aspects of the study and the conclusions that follow from them. Do not repeat in detail data given in other sections of the paper.
Case Series/Case Reports
Submit case studies of three or fewer patients as "Case report". Text should be structured in the following way: Abstract, Introduction, Case report, and Discussion.
Abstract: It should be structured. In 250 words or less; state: Context, Case report, and Conclusions. Do not use nonstandard abbreviations, footnotes or references.
Introduction: Summarize the context for the report.
Case report: Report the data of the patient(s) in a logical sequence in the text, tables, and illustrations. Do not duplicate data in graphs or tables. Report the reference range of any laboratory data.
Discussion: Emphasize the novel situation and add important insights into mechanisms or diagnosis or treatment, as well as, the conclusions that follow from them. Do not repeat in detail data given in other sections of the paper.
The authors can publish multimedia materials (Images, Audio and/or Video, Slide presentations, etc.) of particular clinical importance, and/or representing curious or unusual aspects of the pancreas. The authors should also provide a text with the description of the multimedia materials. The text may be structured and a brief Abstract of 250 words or less should be included. A maximum of three References is allowed. Identify the multimedia materials with consecutive Arabic numerals and do not provide legends, but comment the multimedia materials in the text.
Reviews / Highlight articles / Special articles
They are in-depth, comprehensive, state-of-art-reviews of important clinical topics. Reviews may be invited by the Editors or they may be unsolicited. The text may be structured according to the Author's preferences, but the Author should provide a structured Abstract of 250 words or less. Figures, Tables and other Multimedia Materials may be included.
Express opinions on current topics of interest. Editorials are usually solicited by the Editors but they can also be submitted for peer-reviewing. The text may be structured according to the Author's preferences. A brief Summary of 250 words or less should be included. Figures, Tables and other Multimedia Materials may be included.
References are to be cited in the text by numbers enclosed in squared brackets and numbered in the order in which they are cited in the paper. List references at the end of the text in consecutive order. Abbreviate journal names according to the "ISO 4: Information and documentation - Rules for the abbreviation of title words and titles of publications". The ISSN International Centre has been appointed as the Registration Authority for serial title abbreviations and it publishes a List of Serial Title Word Abbreviations. For abbreviations refer to the "List of Journals Indexed in Index Medicus" (available from the Superintendent of Documents, U.S. Government Printing Office, Washington, D.C. 20402, U.S.A., DHEW Publication No. (NIH) 80-267; ISSN 0093-3821) or to the "NCBI PubMed Journal Browser".
Provide all authors' names when equal to, or fewer than, Five; when more than Five list the first Five and add "et al.". Provide article titles and inclusive pages. Personal communications and unpublished data should be cited directly in the text by the first author, without being numbered.Provide the PubMed Unique Identifier (PMID) enclosed in squared brackets for all references indexed in PubMed, as well as, the URLs of the full-text of the cited articoles (where available).
Accuracy of reference data is the responsibility of the author.
Article: Leser HG, Gross V, Scheibenbogen C, Heinish A, Salm R, et al. (1991) Elevation of serum interleukin-6 concentration precedes acute-phase response and reflects severity in acute pancreatitis. Gastroenterology 101:782-5.
Book: Watson JD (1968) The Double Helix. New York: Atheneum.
Article in book: Hofmann AF (1993) The enterohepatic circulation of bile acids in health and disease. In: Sleisinger MH, Fordtran JS (eds). Gastrointestinal Disease. (5thedn), Philadelphia, Saunders:127-150.
The tables should be placed after the reference list. All tables must be quoted in the text. Number tables consecutively with Arabic numerals in order of mention in the text. Provide titles for all tables. Do not use internal vertical rules. Abbreviations used in tables should be defined in a legend added to the table.
The figure legends should be placed after the tables (if any) or the reference list. A legend should be reported for each illustation. Identify legends with Arabic numerals corresponding to the illustrations.
Provide a brief caption to each figure. The figures should be placed in the manuscript after the corresponding caption. All figures must be quoted in the text. Number figures consecutively with Arabic numerals in order of mention in the text. Abbreviations used in figures should be defined in the legend.
Rules for Preparing Abstracts
• The abstract must be written in English.
• The title must not exceed 200 characters including spaces. Avoid non-standard abbreviations in the title. Apply capitalization.
• Authors’ full name (capitalize the first character only) should precede the middle initial (uppercase) and the full last name (capitalize the first character only).
• Indicate the Name, Town, and Country of the institution(s) where the scientific work was undertaken.
• Do not underline any word in Title, Authors’ List and Institution.
• The body of the abstract must be structured as follows: Context, Objective, Methods, Results, and Conclusions (for case reports: Context, Case report, Conclusion). Heads of the sections should be type in Bold Font followed by space and the text of the section. (Sentences such as “The results will be discussed... ” must be avoided).
• Only one figure (maximum size: 2x3 inches) and/or one table may be inserted in the abstract.