Translational Science of Rare Diseases

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ISSN print
2214-6490
ISSN online
2214-6512
Volume
2; 4 issues
Status
Last issue (1:2) online on 8 November 2016
Next issue
(2:1) scheduled for March 2017
Back volumes
1
Subject
Biochemistry, Medicine & Health
Print only price for 2017 incl. p/h €249 / US$316 Excluding VAT
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Freely Available Online

Download the flyer with Call for Papers here.

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.

Editors-in-Chief
Rashmi Gopal-Srivastava, PhD
Director, Extramural Research Program, ORDR
Office of Rare Diseases Research (ORDR)
National Center for Advancing Translational Sciences (NCATS)
National Institutes of Health (NIH)
Democracy 1 Building, Room 1008
6701 Democracy Blvd
Bethesda, MD 20892
USA
Email: gopalr@mail.nih.gov

Alan K. Percy, MD
Department of Pediatrics
Division of Child Neurology
University of Alabama School of Medicine
1720 2nd Avenue South Birmingham
Birmingham, AL
USA
Email: apercy@uab.edu

Editorial Board
J. Christodoulou
University of Melbourne, Melbourne, Australia

A. Clarke
Cardiff University, Cardiff, UK

S. Day
NDA Group, London, UK

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

C. Ferreira
NHGRI, Washington DC, USA

S. Groft
National Institutes of Health, Bethesda, MD, USA

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

B. Korf
University of Alabama Birmingham, Birmingham, AL, USA

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

M. Manion
Primary Ciliary Dyskenesia Foundation, Minneapolis, MN, USA

C. Mohan
United Mitochondrial Disease Foundation, Pittsburgh, PA, USA

A. Pariser
Office of Rare Diseases FDA, Silver Spring, MD, USA

R. Puri
Sir Ganga Ram Hospital, New Delhi, India

A. Renieri
University of Siena, Siena, Italy

O. Skjeldal
Rikshospitalet University Hospital, Oslo, Norway

M. Summar
Children’s National Hospital, Washington DC, USA

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

B. Trapnell
CCHMC, Cincinnati, OH, USA

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

L. Villard
INSERM UMR and Aix Marseille University, Marseille, France


Authors are requested to submit their manuscript electronically to www.mstracker.com.

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.

    PREPARATION OF MANUSCRIPTS

    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.
    BACKGROUND:
    OBJECTIVE:
    METHODS:
    RESULTS:
    CONCLUSIONS:

    Tables
    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.

    REFERENCES


    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
    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.

    Figures
    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

    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.

    PROOFS & PURCHASES

    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: editorial@iospress.nl.

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

    KUDOS

    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.