Rare Disease and Orphan Drugs Journal
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Editor-in-Chief: Daniel Scherman
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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

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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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From hype to hope: foundational requirements for NF1 gene therapy success

Elwy Okaz, ...Kalyan Vinnakota
Open Access Perspective DOI: 10.20517/rdodj.2025.15 25 Aug 2025
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Discriminating dyslipidemias - a South African perspective

Adrian David Marais
Open Access Perspective DOI: 10.20517/rdodj.2025.17 23 Jul 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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Sustainable approaches for drug repurposing in rare diseases: recommendations from the IRDiRC Task Force

Galliano Zanello, ... Virginie Hivert
Open Access Perspective DOI: 10.20517/rdodj.2023.04 24 Apr 2023
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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 (in progress)
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

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
Sustainable approaches for drug repurposing in rare diseases: recommendations from the IRDiRC Task Force
Galliano Zanello, ... Virginie Hivert
Open Access | Perspective | 24 Apr 2023
Views: | Downloads:
Download PDF

Coming soon.

Volume 4, Issue 3 (in progress)
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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