Rare Disease and Orphan Drugs Journal
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Editor-in-Chief: Daniel Scherman
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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 Issues 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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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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Management strategies using biologics in systemic lupus erythematosus

Richard Furie
Open Access Review DOI: 10.20517/rdodj.2025.03 23 Jul 2025
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The clinical landscape of cutaneous neurofibromas in neurofibromatosis type 1

Rebecca M. Brown
Open Access Review DOI: 10.20517/rdodj.2025.14 22 Jul 2025
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Challenges in pediatric familial hypercholesterolemia management: insights from a survey in Shizuoka, Japan

Satoru IwashimaSatoru Iwashima, Isao Miyairi
Open Access Original Article DOI: 10.20517/rdodj.2024.60 14 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
Scopus Indexing Achieved: A New Chapter for RDODJ！
Starting from 2022, all publications of RDODJ will be fully indexed in Scopus.
Special Interview with Prof. Phillip D.K. Lee
Exploring the Frontiers of Pediatric Endocrinology and Scientific Publishing
The 2nd RDODJ Webinar
Familial Hypercholesterolemia
Special Interview with Dr. Randi J. Hagerman
During the interview, Dr. Hagerman elaborated on the key points of her article, current research, and prospects within the field of Fragile X Syndrome, and offered suggestions for the future development of the journal.
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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