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
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
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)
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)
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
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COPYRIGHT
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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.
PROOFS AND PURCHASES
Proofs
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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.
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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
Cabell's Guide or Directory
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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.
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
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