Rare Disease and Orphan Drugs Journal
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Editor-in-Chief: Daniel Scherman
Indexing: ESCI, Scopus, Dimensions, Lens, ASCI,
Median time to first editorial decision: 7 days
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Rare Disease and Orphan Drugs Journal
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Editor-in-Chief: Daniel Scherman
Median time to first editorial decision: 7 days
Home Articles Special Topics Volumes Webinars Videos

Rare Disease and Orphan Drugs Journal

The importance of psychological support for parents and caregivers of children with a rare disease at diagnosis

The dynamic and urgent path of rare disease and orphan drug research

Evidence evaluation in rare disease guidelines: a methodological perspective

Neurofibromatosis type 2-related schwannomatosis: an update

Management strategies for systemic lupus erythematosus using kinase inhibitors

Emerging treatments for systemic lupus erythematosus

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Monoclonal gammopathies and their management in Gaucher disease type 1

Jeremy Lorber, ...Barry E Rosenbloom
Open Access Review DOI: 10.20517/rdodj.2025.30 3 Dec 2025
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Reframing cutaneous neurofibromas as a model for extracellular matrix-driven benign tumor biology by R Brown

Daniel Scherman
Open Access Editorial DOI: 10.20517/rdodj.2025.73 28 Nov 2025
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A communication toolkit for the most impactful symptoms of Fabry disease: co-creation with Fabry disease patients and their treating clinicians in the UK

Derralynn Hughes, ...Thomas Kenny
Open Access Original Article DOI: 10.20517/rdodj.2025.27 11 Nov 2025
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Biologics reshape the future of lupus care

Daniel Scherman
Open Access Editorial DOI: 10.20517/rdodj.2025.59 10 Nov 2025
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Gene therapy for inborn errors of immunity: past progress, current status and future directions

Robert Torrance, ...Thomas A Fox
Open Access Review DOI: 10.20517/rdodj.2025.42 17 Oct 2025
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Federated learning for rare disease detection: a survey

Jiaqi WangJiaqi Wang, Fenglong MaFenglong Ma
Open Access Review DOI: 10.20517/rdodj.2023.16 9 Oct 2023
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Next-generation sequencing-based newborn screening initiatives in Europe: an overview

Virginie Bros-Facer, ... Christine PatchChristine Patch
Open Access Original Article DOI: 10.20517/rdodj.2023.26 6 Oct 2023
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Newborn screening in South Africa: the past, present, and plans for the future

Helen L. Malherbe, ... Barend C. Vorster
Open Access Commentary DOI: 10.20517/rdodj.2023.49 28 Feb 2024
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Themed Collections
rare disease
orphan drug
Topic: Treatment in Autism Spectrum Disorder
Topic: Advancements in Diagnosis and Treatment of Fabry Disease 1.0
Topic: Newborn Screening I - Real World Applications and Technologies
Volume 4, Issue 3
Volume 4, Issue 2
Volume 4, Issue 1
Volume 3, Issue 4
Volume 3, Issue 3
Volume 3, Issue 2
Volume 3, Issue 1
Volume 2, Issue 4
Volume 2, Issue 3
Volume 2, Issue 2
Volume 2, Issue 1
Volume 1, Issue 4
Volume 1, Issue 3
Volume 1, Issue 2
Volume 1, Issue 1
Rare Disease and Orphan Drugs Journal Accepted for Inclusion in Emerging Sources Citation Index (ESCI)
Rare Disease and Orphan Drugs Journal (RDODJ) has been officially indexed in the Emerging Sources Citation Index (ESCI) of Web of Science as of September 16, 2025!
Congratulations!
Fifteen Editorial Board Members of RDODJ Named among 2025 World's Top 2% of Scientists!
Scopus Indexing Achieved: A New Chapter for RDODJ!
Starting from 2022, all publications of RDODJ will be fully indexed in Scopus.
The 2nd RDODJ Webinar
Familial Hypercholesterolemia
Rare Disease and Orphan Drugs Journal Supports 2024 Global Rare Diseases Research Symposium
Rare Disease and Orphan Drugs Journal is delighted to announce support for the 2024 Global Rare Disease Research Symposium

The importance of psychological support for parents and caregivers of children with a rare disease at diagnosis

The dynamic and urgent path of rare disease and orphan drug research

Evidence evaluation in rare disease guidelines: a methodological perspective

Neurofibromatosis type 2-related schwannomatosis: an update

Management strategies for systemic lupus erythematosus using kinase inhibitors

Emerging treatments for systemic lupus erythematosus

Federated learning for rare disease detection: a survey
Jiaqi WangJiaqi Wang, Fenglong MaFenglong Ma
Open Access | Review | 9 Oct 2023
Views: | Downloads:
Download PDF
Next-generation sequencing-based newborn screening initiatives in Europe: an overview
Virginie Bros-Facer, ... Christine PatchChristine Patch
Open Access | Original Article | 6 Oct 2023
Views: | Downloads:
Download PDF
Newborn screening in South Africa: the past, present, and plans for the future
Helen L. Malherbe, ... Barend C. Vorster
Open Access | Commentary | 28 Feb 2024
Views: | Downloads:
Download PDF

Coming soon.

Volume 4, Issue 3
Volume 4, Issue 2
Volume 4, Issue 1
Volume 3, Issue 4
Volume 3, Issue 3
Volume 3, Issue 2
Volume 3, Issue 1
Volume 2, Issue 4
Volume 2, Issue 3
Volume 2, Issue 2
Volume 2, Issue 1
Volume 1, Issue 4
Volume 1, Issue 3
Volume 1, Issue 2
Volume 1, Issue 1
Rare Disease and Orphan Drugs Journal
ISSN 2771-2893 (Online)
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