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Rare Disease and Orphan Drugs Journal

Open Access

Editor-in-Chief : Daniel Scherman

Indexing : ESCI, Scopus, Dimensions, Lens, ASCI

Journal Flyer
1.9 Impact Factor
2.1 CiteScore
7 days Time to First Decision
Rare Disease and Orphan Drugs Journal
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About the journal

The Rare Disease and Orphan Drugs Journal (RDODJ) is an international, peer-reviewed, open-access journal dedicated to advancing research on the genetic and molecular basis of rare diseases and promoting translational research in their diagnosis, prevention, and treatment. RDODJ provides a forum for scientific research and scholarly discussion on key regulatory, socioeconomic, and humanistic issues related to rare diseases and orphan drugs.
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Featured Articles

Articles

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Complex LDLR mutations in Taiwanese familial hypercholesterolemia

Ta-Chen Su, ...Chiau-Suong Liau
30 Jun 2026

Rare pituitary diseases in dogs and cats and their human companions

Lucinda van Stee, ...Björn Meij
12 Jun 2026

Most Cited Papers in Last Two Years

The inflammatory pathogenetic pathways of Fabry nephropathy

Sandro FeriozziSandro Feriozzi, Paula Rozenfeld
17 Apr 2024

Call for Papers

Call for Papers

Topics Collection

Topic: Advancements in Diagnosis and Treatment of Familial Hypercholesterolemia Topic: Advancements in Diagnosis and Treatment of Familial Hypercholesterolemia Submission deadline: 31 Mar 2025Topic: Duchenne Muscular Dystrophy (DMD): Progress in Research and Insights Topic: Duchenne Muscular Dystrophy (DMD): Progress in Research and Insights Submission deadline: 31 Mar 2025Topic: Advances in Neurofibromatosis - The Future is Bright Topic: Advances in Neurofibromatosis - The Future is Bright Submission deadline: 28 Feb 2025

All Issues

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Volume 5, Issue 4
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Volume 5, Issue 3
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Volume 5, Issue 2
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Volume 5, Issue 1
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Volume 4, Issue 4
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Volume 4, Issue 3
Journal Cover
Volume 4, Issue 2
Journal Cover
Volume 4, Issue 1
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Volume 3, Issue 4
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Volume 3, Issue 3
Journal Cover
Volume 3, Issue 2
Journal Cover
Volume 3, Issue 1
Journal Cover
Volume 2, Issue 4
Journal Cover
Volume 2, Issue 3
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Volume 2, Issue 2
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Volume 2, Issue 1
Journal Cover
Volume 1, Issue 4
Journal Cover
Volume 1, Issue 3
Journal Cover
Volume 1, Issue 2
Journal Cover
Volume 1, Issue 1

Academic Talks

Interview with Prof. Janet Woodcock: From Regulatory Leadership to Rare Disease Innovation
Interview with Professor Robert S. Rosenson: Advancing the Future of Inherited Lipid Disorder Management
Special Interview with Prof. Antonio Persico: Insights into Autism Spectrum Disorder and Genetic Research

News

The Rare Disease and Orphan Drugs Journal Receives Its First Impact Factor of 1.9
Congratulations to Rare Disease and Orphan Drugs Journal for Achieving Its First CiteScore: 2.1
Daniel Scherman Daniel SchermanJacques S Beckmann Jacques S BeckmannTao Duan Tao DuanJoe Kornegay Joe KornegayPhillip D.K. Lee Phillip D.K. LeeNeal J. Weinreb Neal J. Weinreb

Rare Disease and Orphan Drugs Journal

Editor-in-Chief: Daniel Scherman

Indexing: ESCI, Scopus, Dimensions, Lens, ASCI

Median time to first editorial decision: 7 days

1.9 Impact Factor
2.1 CiteScore
Featured Articles

Fabry nephropathy: a treatable cause of chronic kidney disease

BY Michael L. West, ET AL.

Investigating Fabry disease - some lessons learned

BY Raphael Schiffmann, ET AL.

Gene therapy for Dravet syndrome: promises and impact on disease trigger and secondary modifications

BY Claudia Di Berardino, ET AL.

See More
<em>RDODJ</em> Receives Its First Impact Factor of 1.9
Congratulations to <em>Rare Disease and Orphan Drugs Journal</em> for Achieving Its First CiteScore: 2.1
Interview with Professor Robert S. Rosenson from Icahn School of Medicine at Mount Sinai
<i>Rare Disease and Orphan Drugs Journal</i> Reports Key Milestones for 2025
Congratulations!

RDODJ Receives Its First Impact Factor of 1.9

1.9 Impact Factor
2.1 CiteScore
Articles
See More
Most Cited Papers In Last Two Years
See More
Call for papers
See More
Special Topics ebooks
Topic: Duchenne Muscular Dystrophy (DMD): Progress in Research and Insights

Duchenne Muscular Dystrophy (DMD): Progress in Research and Insights

Martin K. (Casey) Childers, PhD

Submission deadline: 31 Mar 2025

Topic: Advancements in Diagnosis and Treatment of Familial Hypercholesterolemia

Advancements in Diagnosis and Treatment of Familial Hypercholesterolemia

Mariko Harada-Shiba, Ph.D. M.D.; Hayato Tada, PhD. M.D

Submission deadline: 31 Mar 2025

Topic: Advances in Neurofibromatosis - The Future is Bright

Advances in Neurofibromatosis - The Future is Bright

Prof. Allan E. Rubenstein; Gurcharanjeet Kaur, MD

Submission deadline: 28 Feb 2025

Topics Collection
Topic: Advancements in Diagnosis and Treatment of Familial Hypercholesterolemia
Topic: Advancements in Diagnosis and Treatment of Familial Hypercholesterolemia Submission deadline: 31 Mar 2025
Topic: Duchenne Muscular Dystrophy (DMD): Progress in Research and Insights
Topic: Duchenne Muscular Dystrophy (DMD): Progress in Research and Insights Submission deadline: 31 Mar 2025
Topic: Advances in Neurofibromatosis - The Future is Bright
Topic: Advances in Neurofibromatosis - The Future is Bright Submission deadline: 28 Feb 2025
All Issues
Volume 5, Issue 4

Volume 5, Issue 4

Volume 5, Issue 3

Volume 5, Issue 3

Volume 5, Issue 2

Volume 5, Issue 2

Volume 5, Issue 1

Volume 5, Issue 1

Volume 4, Issue 4

Volume 4, Issue 4

Volume 4, Issue 3

Volume 4, Issue 3

Volume 4, Issue 2

Volume 4, Issue 2

Volume 4, Issue 1

Volume 4, Issue 1

Volume 3, Issue 4

Volume 3, Issue 4

Volume 3, Issue 3

Volume 3, Issue 3

Volume 3, Issue 2

Volume 3, Issue 2

Volume 3, Issue 1

Volume 3, Issue 1

Volume 2, Issue 4

Volume 2, Issue 4

Volume 2, Issue 3

Volume 2, Issue 3

Volume 2, Issue 2

Volume 2, Issue 2

Volume 2, Issue 1

Volume 2, Issue 1

Volume 1, Issue 4

Volume 1, Issue 4

Volume 1, Issue 3

Volume 1, Issue 3

Volume 1, Issue 2

Volume 1, Issue 2

Volume 1, Issue 1

Volume 1, Issue 1

Academic Talks
Interview with Prof. Janet Woodcock: From Regulatory Leadership to Rare Disease Innovation

Interview with Prof. Janet Woodcock: From Regulatory Leadership to Rare Disease Innovation

News
The Rare Disease and Orphan Drugs Journal Receives Its First Impact Factor of 1.9Congratulations to Rare Disease and Orphan Drugs Journal for Achieving Its First CiteScore: 2.1
Editorial Board
Daniel Scherman
Jacques S Beckmann
Tao Duan
Joe Kornegay
Phillip D.K. Lee
Neal J. Weinreb
Bridget Bax
Olivier Blin
Matt Bolz-Johnson
Ana Buj-Bello
Gillian Butler-Browne
Li Cao
Hon Yin Brian Chung
Marc Dooms
Richard H. Finnell
Dominik Fröhlich
Carine Giovannangeli
Minxin Guan
Jinxiang Han
Mariko Harada-Shiba
Ayal Hendel
Virginie Hivert
Gary Housley
Taosheng Huang
Danny Huylebroeck
Reena Kartha
Peter M. Krawitz
Andrew Levy
Xiaojiang Li
Jihong Liu
Bai Lu
Bin Lu
Xiaoping Luo
David L. Mack
Kees Noordam
Daniel J. O’Connor
David Pearce
Yves Pirson
Manuel Posada de la Paz
Aurora Pujol
Juergen Reichardt
Peter N. Robinson
Rodrigue Rossignol
Franz Schaefer
Yilai Shu
Violeta Stoyanova-Beninska
Domenica Taruscio
Gabriele Thumann
Capucine Trollet
Joris A. Veltman
Shuhang Wang
Durhane Wong-Rieger
Ke Wu
Zhi-Ying Wu
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Rare Disease and Orphan Drugs Journal
ISSN 2771-2893 (Online)
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Rare Disease and Orphan Drugs Journal
ISSN 2771-2893 (Online)
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Committee on Publication Ethics

https://members.publicationethics.org/members/rare-disease-and-orphan-drugs-journal

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All published articles are preserved here permanently:

https://www.portico.org/publishers/oae/
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© 2016-2026 OAE Publishing Inc., except certain content provided by third parties