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
Submission to first decision: 72 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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A contemporary treatment regimen normalizes muscle mass and adult height in children with Prader-Willi syndrome - a longitudinal analysis

Cees Noordam, ...Urs Eiholzer,
Open Access Original Article DOI: 10.20517/rdodj.2025.07 10 Jun 2025
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Early diagnosis of systemic lupus erythematosus

Martin Aringer, George Bertsias
Open Access Review DOI: 10.20517/rdodj.2024.59 27 May 2025
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Exercise and myasthenia gravis

Jiayu ShiJiayu Shi, ... Yuzhou GuanYuzhou Guan
Open Access Review DOI: 10.20517/rdodj.2024.42 20 May 2025
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Potential barriers to reverse cascade screening combined with universal cholesterol screening for paediatric familial hypercholesterolemia: focus on second-degree relatives of a proband

Ryosuke TaniRyosuke Tani, ... Tetsuo MinaminoTetsuo Minamino
Open Access Original Article DOI: 10.20517/rdodj.2024.50 8 May 2025
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Measurement of Achilles tendon thickness using ultrasonography for diagnosis and risk assessment in patients with familial hypercholesterolemia

Masahito MichikuraMasahito Michikura, ... Mariko Harada-Shiba
Open Access Review DOI: 10.20517/rdodj.2024.57 23 Apr 2025
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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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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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Connecting academia and industry for innovative drug repurposing in rare diseases: it is worth a try

Christine Fetro
Open Access Perspective DOI: 10.20517/rdodj.2023.06 9 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 2 (in progress)
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

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
Federated learning for rare disease detection: a survey
Jiaqi WangJiaqi Wang, Fenglong MaFenglong Ma
Open Access | Review | 9 Oct 2023
Views: | Downloads:
Download PDF
Connecting academia and industry for innovative drug repurposing in rare diseases: it is worth a try
Christine Fetro
Open Access | Perspective | 9 Apr 2023
Views: | Downloads:
Download PDF
Volume 4, Issue 2 (in progress)
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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