Rare Disease and Orphan Drugs Journal
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Editor-in-Chief: Daniel Scherman
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Submission to first decision: 72 days
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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

Articles

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Electroencephalogram (EEG) network-level excitation-inhibition in GRIN2B-related neurodevelopmental disorders: a pilot case-control series

Jennifer R. RamautarJennifer R. Ramautar, ... Hilgo BruiningHilgo Bruining
Open Access Original Article DOI: 10.20517/rdodj.2024.27 9 Jan 2025
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The genotype and phenotype correlation of Prader-Willi syndrome

Yang-Li Dai, ... Chao-Chun Zou
Open Access Review DOI: 10.20517/rdodj.2024.20 26 Nov 2024
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Correction: Exploratory survey study on adjunctive use of medical cannabis for Gaucher Disease (Rare Disease and Orphan Drugs Journal 2024; 10.20517/rdodj.2024.17)

Yehoshua Berman, ... Neal J. Weinreb
Open Access Correction DOI: 10.20517/rdodj.2024.39 6 Nov 2024
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First, do no harm: the role of preclinical animal models in predicting adverse events in gene therapy clinical trials for Duchenne muscular dystrophy and X-Linked myotubular myopathy

Joe N. KornegayJoe N. Kornegay, ... Martin K. (Casey) Childers
Open Access Review DOI: 10.20517/rdodj.2024.28 3 Nov 2024
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Respiratory abnormalities in Dravet syndrome: insights from a case report and literature review

Jacopo Favaro, ... Irene Toldo
Open Access Review DOI: 10.20517/rdodj.2023.64 21 Oct 2024
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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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Overcoming challenges in sustaining newborn screening in low-middle-income countries: the Philippine newborn screening system

Carmencita D. PadillaCarmencita D. Padilla, ... Bradford L. TherrellBradford L. Therrell
Open Access Perspective DOI: 10.20517/rdodj.2023.38 10 Dec 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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Themed Collections
rare disease
orphan drug
Topic: Newborn Screening I - Real World Applications and Technologies
Topic: Newborn Screening II - Policy, Ethics and Patient Perspectives
Volume 3, Issue 4 (in progress)
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
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.
Special Interview with Dr. Juan Manuel Politei
During the interview, Dr. Politei talked about the highlight of this article, his current research, prospects in the field of Fabry diseases, 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
Series special issues on Newborn Screening

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

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
Overcoming challenges in sustaining newborn screening in low-middle-income countries: the Philippine newborn screening system
Carmencita D. PadillaCarmencita D. Padilla, ... Bradford L. TherrellBradford L. Therrell
Open Access | Perspective | 10 Dec 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
Rare Disease and Orphan Drugs Journal
ISSN 2771-2893 (Online)
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