Translational Science of Rare Diseases


6, 4 issues

Latest issue

5:3-4 online 15 April 2021

Next issue

6:1-2 scheduled for January 2022

Back volumes

From volume 1, 2016

ISSN print


ISSN online

Online Only

Aims & Scope

This journal will accept original scientific articles focused on all aspects of rare disease research; from genetic defect to a defined and validated intervention. This will include basic research related to target identification for intervention in specific rare diseases, systems biology research that may lead to binning currently disparate rare diseases, preclinical data supporting small molecule, biologic, gene therapy or cell based approaches to therapeutics, novel animal models for rare diseases applications, and research related to repositioning approved or late stage clinical compounds for rare diseases. The focus also extends to clinical research in rare diseases spanning basic research to surmount the overarching problems of clinical trials for small patient populations, patient recruitment and retention, and power, use of novel adaptive clinical trial design, natural history studies, endpoint and clinical outcome criteria that may be broadly applicable, better diagnostic criteria for diseases that are defined by extreme phenotypes. Another topic of clinical interest will be the construction of new informatics tools for registry building. There will also be a focus on issues of regulatory policy for rare disease; including reports on new orphan designations, changes in regulatory policy and policies of rare disease reimbursement as well as patient perspectives. The journal will feature independent, original research articles as well as in-depth review of specific rare diseases and therapeutics, and opinion pieces from regulators, patient advocates and leading industry and academic researchers focused on rare diseases.

Editorial Board


Rashmi Gopal-Srivastava, PhD
Clinical and Translational Science Awards (CTSA) Hubs
National Center for Advancing Translational Sciences (NCATS)
National Institutes of Health (NIH)

Democracy 1 Building, Room 908
6701 Democracy Blvd
Bethesda, MD 20892


Alan K. Percy, MD
Department of Pediatrics
Division of Child Neurology
University of Alabama School of Medicine

Birmingham, AL

Associate Editors

Wendy A.G. van Zelst-Stams, MD
Radboud University Medical Center
Nijmegen, The Netherlands

Olaf Bodamer
Boston Children's Hospital/Harvard Medical School
Boston, MA

Stephen C. Groft
National Institutes of Health
Bethesda, MD

Kenjiro Kosaki
Keio University School of Medicine, Tokyo

Social Media Editor

Harsha K. Rajasimha, MS, PhD
Rare Diseases Systems Biology Initiative
George Mason University

Fairfax, VA

Editorial Board

X. Bao
Peking University First Hospital, Beijing

A.R. Pariser
National Center for Advancing Translational Sciences, NIH

I.C. Verma
Sir Ganga Ram Hospital, New Delhi

C.M.L. van Herpen
Radboud University Medical Center, Nijmegen
The Netherlands

B. Trapnell
CCHMC, Cincinnati, OH

J.L.P. Thompson
Columbia University, New York, NY

M. Summar
Children’s National Hospital, Washington DC

O. Skjeldal
Rikshospitalet University Hospital, Oslo

M. Roos
Leiden University Medical Centre, Leiden
The Netherlands

A. Renieri
University of Siena, Siena

R. Puri
Sir Ganga Ram Hospital, New Delhi

C. Mohan
United Mitochondrial Disease Foundation, Pittsburgh, PA

J. Christodoulou
Murdoch Childrens Research Institute, Parkville

M. Manion
Primary Ciliary Dyskenesia Foundation, Minneapolis, MN

C. Le Mons
National Urea Cycle Disorders Foundation, Pasadena, CA

B. Korf
University of Alabama Birmingham, Birmingham, AL

M. Haendel
OHSU Library, Portland, OR

M. Gunay-Aygun
National Human Genome Research Institute, NIH, Bethesda, MD

C. Ferreira
NHGRI, Washington DC

P.M. Farrell
UW School of Medicine and Public Health, WI

S. Day
NDA Group, London

A. Clarke
Cardiff University, Cardiff

L. Villard
INSERM UMR and Aix Marseille University, Marseille

Author Guidelines


By submitting my article to this journal, I agree to the IOS Press License to Publish: and the IOS Press Privacy Policy:

Authors are requested to submit their manuscript electronically to

Note that the manuscript should be uploaded as one file with tables and figures included. This file can be a Microsoft Word document or an Adobe PDF.

Please contact the Editorial Office if you experience difficulties with the online system.

Required files
After the article has been accepted, the following electronic files are required:

  • a word processor file of the tekst, such as Word or LateX (If using LaTeX, please use the standard article.sty as a style file and also send a pdf version of the LaTeX file)
  • separate files of all figures (if any); see "Preparation of manuscripts" for the required file formats.
  • Colour figures
    It is possible to have figures printed in colour, provided the cost of their reproduction is paid for by the author. See Preparation of Manuscripts for the required file formats.

    Cover Letter
    Please include in the cover letter a statement that the manuscript has not been published before and is not being considered for publication in another journal. Authors are requested to suggest 5-6 potential reviewers for their manuscript. Please provide names, titles, affiliations, addresses and emails of the suggested reviewers.


    Organization of the paper and style of presentation
    Manuscripts must be written in English and American spelling should be used consistently throughout the manuscript.

    Authors whose native language is not English are recommended to seek the advice of a native English speaker, if possible, before submitting their manuscripts. Peerwith offers a language and copyediting service to all scientists who want to publish their manuscript in scientific peer-reviewed periodicals and books.

    Manuscripts should be prepared with wide margins and double spacing throughout, including the abstract, footnotes and references. Every page of the manuscript, including the title page, references, tables, etc., should be numbered. However, in the text no reference should be made to page numbers; if necessary, one may refer to sections.

    Try to avoid the excessive use of italics and bold face.

    Manuscripts should be organized in the following order:

  • Title page
  • Body of text (divided by subheadings)
  • Acknowledgements
  • References
  • Tables
  • Figure captions
  • Figures
  • Headings and subheadings should be numbered and typed on a separate line, without indentation.

    SI units should be used, i.e., the units based on the metre, kilogramme, second, etc.

    Title page
    The title page should provide the following information:

  • Title (should be clear, descriptive and not too long)
  • Name(s) of author(s); please indicate who is the corresponding author
  • Full affiliation(s)
  • Present address of author(s), if different from affiliation
  • Complete address of corresponding author, including tel. no., fax no. and e-mail address
  • Abstract
  • Keywords
  • Abstract
    The abstract should be clear, descriptive, self-explanatory and not longer than 200 words, it should also be suitable for publication in abstracting services.
    The abstract for research papers should follow the “structured abstract” format. Section labels should be in bold uppercase letters followed by a colon, and each section will begin on a new line.

    Number as Table 1, Table 2 etc, and refer to all of them in the text.

    Each table should be provided on a separate page of the manuscript. Tables should not be included in the text.

    Each table should have a brief and self-explanatory title.

    Column headings should be brief, but sufficiently explanatory. Standard abbreviations of units of measurement should be added between parentheses.

    Vertical lines should not be used to separate columns. Leave some extra space between the columns instead.

    Any explanations essential to the understanding of the table should be given in footnotes at the bottom of the table.


    For citations in the text, numbers between square brackets should be used. All publications cited in the text should be presented in a list of references following the text of the manuscript.
    References should be listed alphabetically in the following style:
    [1] B. Newman and E.T. Liu, Perspective on BRCA1, Breast Disease 10 (1998), 3-10.
    [2] D.F. Pilkey, Happy conservation laws, in: Neural Stresses, J. Frost, ed., Controlled Press, Georgia, 1995, pp. 332-391.
    [3] E. Wilson, Active vibration analysis of thin-walled beams, Ph.D. Dissertation, University of Virginia, 1991.

    Footnotes should only be used if absolutely essential. In most cases it is possible to incorporate the information in the text.

    If used, they should be numbered in the text, indicated by superscript numbers and kept as short as possible.

    Number figures as Fig. 1, Fig. 2, etc and refer to all of them in the text.

    Each figure should be provided on a separate sheet. Figures should not be included in the text.

    Colour figures can be included, provided the cost of their reproduction is paid for by the author.

    For the file formats of the figures please take the following into account:

  • Line art should be have a minimum resolution of 600 dpi, save as EPS or TIFF
  • Grayscales (incl photos) should have a minimum resolution of 300 dpi (no lettering), or 500 dpi (when there is lettering); save as tiff
  • Do not save figures as JPEG, this format may lose information in the process
  • Do not use figures taken from the Internet, the resolution will be too low for printing
  • Do not use colour in your figures if they are to be printed in black & white, as this will reduce the print quality (note that in software often the default is colour, you should change the settings)
  • For figures that should be printed in colour, please send a CMYK encoded EPS or TIFF
  • Figures should be designed with the format of the page of the journal in mind. They should be of such a size as to allow a reduction of 50%.

    On maps and other figures where a scale is needed, use bar scales rather than numerical ones, i.e., do not use scales of the type 1:10,000. This avoids problems if the figures need to be reduced.

    Each figure should have a self-explanatory caption. The captions to all figures should be typed on a separate sheet of the manuscript.

    Photographs are only acceptable if they have good contrast and intensity.


    Copyright of your article
    Authors submitting a manuscript do so on the understanding that they have read and agreed to the terms of the IOS Press Author Copyright Agreement.

    Quoting from other publications
    An author, when quoting from someone else's work or when considering reproducing figures or table from a book or journal article, should make sure that he is not infringing a copyright. Although in general an author may quote from other published works, he should obtain permission from the holder of the copyright if he wishes to make substantial extracts or to reproduce tables, plates or other figures. If the copyright holder is not the author of the quoted or reproduced material, it is recommended that the permission of the author should also be sought. Material in unpublished letters and manuscripts is also protected and must not be published unless permission has been obtained. Submission of a paper will be interpreted as a statement that the author has obtained all the necessary permission. A suitable acknowledgement of any borrowed material must always be made.


    PDF Proofs
    The corresponding author will receive a pdf proof and is asked to check this proof carefully (the publisher will execute a cursory check only). Corrections other than printer's errors, however, should be avoided. Costs arising from such corrections will be charged to the authors.

    How to order reprints, a pdf file, journals, or IOS Press books
    For each contribution the corresponding author will receive a complimentary Author’s Copy (watermarked) pdf of their published article. This pdf is for personal use only. Free copies will not be provided for conference proceedings and abstract issues. An order form for reprints, additional journal copies or a pdf file will be provided along with the pdf proof.

    If you wish to order reprints of an earlier published article, please contact the publisher for a quotation. IOS Press, Fax: +31 20 6870039. Email:

    An author is entitled to 25 % discount on IOS Press books. See Author's Discount (25%) on all IOS Press book publications.


    Authors of published articles (non-prepress, final articles) will be contacted by Kudos. Kudos is a service that helps researchers maximize the impact and visibility of their research. It allows authors to enrich their articles with lay metadata, add links to related materials and promote their articles through the Kudos system to a wider public. Authors will receive no more than three emails: one invitation and a maximum of two reminders to register for the service and link the published article to their profile. Using and registering for Kudos remains entirely optional. For more information, please have a look at our authors section.


    Would you like some pointers on how to help your research achieve a wider reach and greater impact? Please consult our Promotional Toolkit for Authors for tips.


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    Follow Translational Science of Rare Diseases (TRD) on Social Media: Follow TRD's Twitter account @RareDiseasesTRJ 

    Harsha K. Rajasimha is our Social Media Editor, responsible for sharing news of interest to the rare diseases research community.

    Journal Content is Currently Freely Available