Rare Disease and Orphan Drugs Journal
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Editor-in-Chief: Daniel Scherman
Indexing: ESCI, Scopus, Dimensions, Lens,
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

A communication toolkit for the most impactful symptoms of Fabry disease: co-creation with Fabry disease patients and their treating clinicians in the UK

Monoclonal gammopathies and their management in Gaucher disease type 1

 

Articles

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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 16 Oct 2025
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Remission and low disease activity in systemic lupus erythematosus

Marisol Bracalenti, ...Andrea Doria
Open Access Review DOI: 10.20517/rdodj.2025.10 9 Oct 2025
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Impact of probucol on xanthoma reduction and its role in cardiovascular event prevention in familial hypercholesterolemia patients

Shizuya Yamashita, ...Daisaku Masuda
Open Access Review DOI: 10.20517/rdodj.2025.16 28 Sep 2025
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Risk factors for coronary artery disease in familial hypercholesterolemia

Jungwoo Choi, ...Sang-Hak Lee
Open Access Review DOI: 10.20517/rdodj.2025.01 27 Sep 2025
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How did we move from the initial concept 24 years ago to the current understanding of treating patients with Fabry Disease? A narrative review and personal perspective

Ulla Feldt-Rasmussen
Open Access Review DOI: 10.20517/rdodj.2025.20 22 Sep 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

A communication toolkit for the most impactful symptoms of Fabry disease: co-creation with Fabry disease patients and their treating clinicians in the UK

Monoclonal gammopathies and their management in Gaucher disease type 1

 

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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