We invite you to submit your manuscript to Translational Science of Rare Diseases. For more information, visit here.
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 features research articles, in-depth reviews, and opinion pieces from regulators, patient advocates and leading industry and academic researchers specializing in rare diseases.
Editorial Board
Editors-in-Chief
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
USA
Email: gopalr@mail.nih.gov
(Rare Diseases, Translational Science Research, Microbiology and Molecular Biology)
Alan K. Percy, MD
Department of Pediatrics
Division of Child Neurology
University of Alabama School of Medicine
Birmingham, AL
USA
Email: apercy@uab.edu
(Rare Diseases, Inborn Errors of Metabolism, Pediatric Neurology)
Associate Editors
Stephen C. Groft, Pharm D
National Institutes of Health
Bethesda, MD
USA
(Rare Diseases)
Kenjiro Kosaki, MD
Keio University School of Medicine, Tokyo
Japan
(Medical Genetics, Intellectual Disability)
Social Media Editor
Harsha K. Rajasimha, MS, PhD
Indo US Organization for Rare Diseases
Fairfax, VA
USA
(Clinical Trials Management, Patient Registries, DEIA, Indo-US, Patient Advocacy)
Editorial Board
Shivarajan M. Amudhavalli, MBBS, FACMG,FAAP
Children's Mercy Hospital, Kansas City, MO
USA
Lindsay Burrage, MD, PhD
Baylor College of Medicine, Houston, TX
USA
Xinhua Bao, MD
Peking University First Hospital, Beijing
China
(Clinical Genetics, Medical Genetics, Neurological Disorders, Rare Diseases, RETT)
John Christodoulou, MB, PhD
Murdoch Childrens Research Institute, Parkville
Australia
(Genetics)
Angus Clarke, BM, DM, MRCP
Cardiff University, Cardiff
UK
(Genetics)
Simon Day, PhD
NDA Group, London
UK
(Clinical Trial Design, Statistics, Small Population, Regulatory Issues)
Philip M. Farrell, MD, PhD
UW School of Medicine and Public Health, WI
USA
(Pediatrics, Cystic Fibrosis and other Respiratory Disorders of Pediatric Patients Caused by Genetic Mutations,e.g., Desquamative Interstitial Pneumonitis and Primary Ciliary Dyskinesia (PCD) and Angelman Syndrome)
Carlos Ferreira, MD
National Human Genome Research Institute, Bethesda, MD
USA
(Inborn Errors of Metabolism, Medical Genetics)
Ann E. Frazier, PhD
Murdoch Children's Research Institute, Parkville, VIC
Australia
Meral Gunay-Aygun, MD
National Human Genome Research Institute, NIH, Bethesda, MD
USA
(Medical Genetics. Abnormal Newborn Screens, Inherited Metabolic Disorders, Inborn Errors of Metabolism, Newborn Screening, Ciliopathies)
Melissa Haendel, PhD
University of Colorado Anschutz Medical Campus, Aurora, CO
USA
(Translational Informatics, Rare Disease Coding Systems, Ontologies, Deep Phenotyping, Open Science)
Carla M.L. van Herpen, MD, PhD
Radboud University Medical Center, Nijmegen
The Netherlands
(Rare Cancers, Early Clinical Studies with New Drugs and Drug Combinations in Oncology)
Bruce Korf, MD, PhD
University of Alabama Birmingham, Birmingham, AL
USA
(Neurological Disorders, Medical Genetics)
Michele Manion, BS
Primary Ciliary Dyskinesia Foundation, Minneapolis, MN
USA
(Patient Perspective for Primary Ciliary Dyskinesia and Related Pulmonary and Rare Diseases)
Chuck Mohan, BS
United Mitochondrial Disease Foundation, Pittsburgh, PA
USA
(Patient, Caregiver and Family Perspective for Mitochondrial and Other Rare Diseases)
Sandesh C.S. Nagamani, MBBS, MD
Baylor College of Medicine, Houston, TX
USA
Sarah E. O’Kelley, PhD
University of Alabama at Birmingham, Departments of Psychology and Pediatrics, Birmingham, AL
USA
(Autism, Neurodevelopmental Disorders, Behavioral Phenotypes, Clinical, Psychological Assessment, Diagnosis)
Phillip L. Pearl, MD
Boston Children's Hospital/Harvard Medical School
Boston, MA
USA
(Inborn Errors of Metabolism)
Ratna Puri, MD, DM
Sir Ganga Ram Hospital, New Delhi
India
(Medical Genetics, Dysmorphology, Rare Diseases, Undiagnosed Diseases Program)
Marco Roos, PhD
Leiden University Medical Centre, Leiden
The Netherlands
(FAIR, Data Infrastructure for Rare Diseases, (Health Care and Life Sience Application of) Knowledge Representation and Semantic Web, E-Science)
Ola Skjeldal, MD, PhD
Rikshospitalet University Hospital, Oslo
Norway
(Neurological Disorders)
Marshall Summar, MD
Children’s National Hospital, Washington DC
USA
(Urea Cycle Disorders, Clinician)
John L.P. Thompson, PhD
Columbia University, New York, NY
USA
(Clinical Trials, Biostatistics)
Bruce Trapnell, MD
CCHMC, Cincinnati, OH
USA
(Pulmonologist, Clinician)
Laurent Villard, PhD
INSERM and Aix Marseille University, Marseille
France
(Neurogenetics, Rare Genetic Diseases of the Central Nervous System, Mouse Models of Neurological Diseases,Developmental and Epileptic Encephalopathies)
Wendy A.G. van Zelst-Stams, MD, PhD
Radboud University Medical Center
Nijmegen, The Netherlands
(Clinical Genetics, Rare Diseases)
Author Guidelines
By submitting my article to this journal, I agree to the Author Copyright Agreement, the IOS Press Ethics Policy, and the IOS Press Privacy Policy.
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.
Publication Fee
The journal will offer Sage Choice at $3700 for 2024 and $3900 for 2025. OA pricing changes are effective on September 1, 2024, but Sage Choice pricing aligns with the calendar year. Licenses that will be offered for OA articles are CC BY-NC 4.0 and CC BY 4.0.
Required files for final submissions
After the article has been accepted, the following electronic files are required:
- a word processor file of the text, 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.
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 advised to consult a professional English language editing service or a native English speaker prior to submission.
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
- Author contributions
- Conflict of Interest
- 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:
Materials and Methods
Experimental subjects
When human subjects are used, manuscripts must be accompanied by a statement that the experiments were undertaken with the understanding and written consent of each subject, and that the study conforms with The Code of Ethics of the World Medical Association (Declaration of Helsinki), printed in the British Medical Journal (18 July 1964).
When experimental animals are used, the Materials and methods section must briefly but explicitly state measures which were taken to minimize pain or discomfort, e.g. type and dose of anaesthetic used. Experiments should be carried out in accordance with the European Communities Council Directive of 24 November 1986 (86/609/EEC) or with the Guidelines laid down by the NIH in the US, available from the Office of Laboratory Animal Welfare, National Institutes of Health, Department of Health and Human Services, RKLI, Suite 360, MSC 7982, 6705 Rockledge Drive, Bethesda, MD 20892-7982, or online (olaw.nih.gov) regarding the care and use of animals for experimental procedures.
All studies using human or animal subjects should include an explicit statement in the Materials and Methods section identifying the review and approval committee for each study. Editors reserve the right to reject papers if there is doubt whether appropriate procedures have been used.
Acknowledgments
This section should contain all acknowledgments, including any funding source to the research.
Author contributions
For every author, his or her contribution to the manuscript needs to be provided using the following categories:
Conception:
Interpretation or analysis of data:
Preparation of the manuscript:
Revision for important intellectual content:
Supervision:
Please read the IOS Press authorship policy for further information.
Conflict of Interest
Statement of any potential conflicts should be clearly identified at the end of the paper. If there is no conflict of interest to declare, you must still include this section and insert the following statement: "The authors declare that they have no conflict of interest."
If an author is also on the Editorial Board of this journal, the following statement should be included in this section: “<AUTHOR> is an Editorial Board Member of this journal, but was not involved in the peer-review process nor had access to any information regarding its peer-review.
Datasets/Data Availability Statement (Required for Research Reports, Short Communications, and Systematic Reviews/Meta-Analyses)
All datasets and data articles cited in your manuscript should be included in the reference list of your article (not in a separate box or in the article text). Data references should include: author name(s), dataset title, data repository, version (where available), year, and identifier (DOI/URL/etc.).
Authors should include a Data Availability statement at the end of the manuscript (before the References) to describe the availability or the absence of shared data. Authors are required to deposit sequence or proteomic data into a public repository (eg. GEO, Chorus) and include a link to the repository and data, and encouraged to publicly archive their research data including, but not limited to: software, algorithms, protocols, methods, and/or materials. Exceptions are made if sharing data compromises ethical standards or legal requirements.
Examples for your paper’s “Data Availability" statement:
- The data supporting the findings of this study are openly available in [repository name] at [DOI and/or URL]. These data were derived from the following resources available in the public domain: [list resources and URLs].
- The data supporting the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.
- The data supporting the findings of this study are available within the article and/or its supplementary material.
- Data sharing is not applicable to this article as no datasets were generated or analyzed during this study.
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.
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
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.
Article sharing
IOS Press adopted Sage’s Article Sharing Policy from 8th of July 2024.
Please go to: Sage’s Author Archiving and Re-Use Guidelines | SAGE Publications Ltd for details. If your manuscript was submitted prior to 8th of July 2024, please contact editorial@iospress.nl with details of your enquiry.
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 AND PURCHASES
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 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.
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Abstracted/Indexed in
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Open Access
By default, articles published in Translational Science of Rare Diseases are available only to institutions and individuals with access rights. However, the journal offers all authors the option to purchase open access publication for their article as part of the IOS Press Open Library. This means that the final published version will be freely available to anyone worldwide, indefinitely, under a Creative Commons license and without the need to purchase access to the article. This is also referred to as “gold” open access.
Gold open access pricing
Authors who choose gold open access publication will be subject to an article publication charge of € 1500 / US$ 1500 for publication under the CC BY-NC 4.0 license or € 2150 / US$ 2150 for publication under the CC BY 4.0 license. Pricing is exclusive of possible taxes. After an article is accepted for publication, the corresponding author will be informed regarding the open access option during the production stages, and will have the opportunity to purchase open access for their article. It could be that the open access fee of an article is waived completely due an institutional agreement IOS Press has with the corresponding authors' institution. Please check the institutional agreements page for details.
Green open access
Authors who do not make use of the gold open access option may still make their article freely available using self-archiving, also referred to as green open access. Authors may make their final accepted manuscript available for free download from their personal or institutional website or institutional archive. This model is free for the author.
PubMedCentral deposits
This journal deposits open access articles in PubMedCentral (PMC) as part of the IOS Press Open Library but can only do so if the article received NIH funding or if any of the authors are NIH, or associated partners, employees. Please refer to the PMC Funder Deposit List at the NIH Public Access Policy for details.
Translational Science of Rare Diseases Peer Review Policy
Translational Science of Rare Diseases is a peer-reviewed journal. All articles submitted to the journal undergo a single blind peer review process. This means that the identity of the authors is known with the reviewers but the identity of the reviewers is not communicated to the authors. Please visit our reviewer guidelines for further information about how to conduct a review.
All submitted manuscripts are subject to initial appraisal by the Editors-in-Chief, and, if found suitable for further consideration, to rigorous peer-review by independent, anonymous expert referees. Reasons to reject a paper in the pre-screening process could for example be because the work does not fall within the aims and scope, the writing is of poor quality, the instructions to authors were not followed or the presented work is not novel. Desk rejections are communicated within a few days after submission.
The Editors-in-Chief strive to ensure a typical turnaround time of 3 months from submission until a decision is communicated to the authors.
Reviewers are asked to judge a paper on at least:
- Originality, novelty and significance of results
- Technical quality of work
- Comprehensibility and presentation of the paper
- Overall impression
Based on the received reviews the Editors-in-Chief will make a decision:
- Accept
- Minor revisions required
- Major revisions required
- Revise and resubmit
- Reject
They mean the following:
- Accept: The manuscript is suitable for publication and only requires minor polishing; thus, no further reviews are requested.
- Minor revisions required: The authors are required to make moderate changes to their manuscript. The manuscript becomes acceptable for publication if the changes proposed by the reviewers and editors are successfully addressed. The revised manuscript will be examined by the Editors-in-Chief and possibly sent back to all (or a selection of) reviewers for a second round of reviews. Authors are requested to provide a letter to the reviewers detailing the improvements made for the resubmission.
- Major revisions required: The manuscript cannot be accepted for publication in its current form. However, a major revision which addresses all issues raised by the reviewers may be acceptable for publication. The revised manuscript will undergo a full second round of review. Authors are requested to provide a letter to the reviewers detailing the improvements made for the resubmission. The article may still be rejected in the revision round.
- Revise and resubmit: In its current form, the manuscript is not suitable for publication. A resubmission would require substantial revisions and is only encouraged in special cases. The resubmitted manuscript will be considered as a new submission.
- Reject: The manuscript is rejected as it is deemed to be out of scope, not relevant, or not meeting the journal’s quality standards in terms of significance, novelty, and/or presentation.
Authors are notified by the Editors-in-Chief, whose decision is final.
In-house submissions are subjected to the peer review process described above. Co-authors who are also members of the Editorial Board are not involved in any way with the peer review process of articles of their (co-)authorship, and are asked to disclose this information in the section conflict of interest.
Sustainable Development Goals
The content of this journal relates to SDG:
Visit the SDG page for more information.
Supporting Diversity and Inclusion
This journal supports IOS Press' actions relating to the Sustainable Development Goals (SDGs) and commits to the Diversity and Inclusion Statement.
More information will be available in due course. Check the SDGs page for updates.
