The Rare Disease and Orphan Drugs Journal (RDODJ) is an international, peer-reviewed, open access journal for the publication of innovative research works on various aspects of this rapidly growing multidisciplinary and interdisciplinary field.

RDODJ will report on scientific advances in the genetics of rare diseases, the molecular basis of the pathologies, and translational research on diagnosis, prevention and treatment.

In addition, RDODJ aims to provide a forum for scientific studies and discussion covering the important regulatory, socio-economic and human science issues related to rare diseases and orphan drugs.

The ultimate objective of RDODJ is to promote the dissemination of research results and scientific discussion among the research community, practitioners, and patient-advocacy organizations.

The scope of RDODJ covers the following research topics:

Genetics of rare diseases. Non-genetic rare diseases, rare cancers, tropical rare diseases
Diagnosis and undiagnosed rare diseases
Epidemiology, registries, data bases, and artificial intelligence
Pathophysiological mechanism. Biochemistry and cell biology
Protein, gene, and cell therapy. Precision medicine and genome editing
Drug repurposing and delivery
Preclinical translational research. Clinical research and methodology
Regulatory and practice guidelines
Medico-economic, health policies and services organization and health promotion
Social sciences: patients' needs, quality of life.

The journal publishes the following types of articles: Original Article, Review, Systematic Review, Meta-analysis, Case Report, Commentary, Editorial, Research Highlight, etc.

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

Immunotherapeutic advances for the treatment of osteosarcoma, driven by studies in pet dogs with spontaneous disease

Computational modelling of cerebrospinal fluid flow in a translational canine model

Diagnosis and therapy of Niemann-Pick disease type C1- what have we learned that can help veterinary patients?

Primary sclerosing encapsulating peritonitis with cryptorchidism in an older man: case report and literature review

Complex LDLR mutations in Taiwanese familial hypercholesterolemia

The European joint programme on rare diseases: building the rare diseases research ecosystem

Newborn screening in South Africa: the past, present, and plans for the future

Framing the European Rare Diseases field through a structured movement of patient organisations

Artificial Intelligence Applications in Rare Disease Research and Care

Mitochondrial Disorders: Molecular Mechanisms, Biomarkers, and Therapeutic Horizons

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

Artificial Intelligence Applications in Rare Disease Research and Care

Mitochondrial Disorders: Molecular Mechanisms, Biomarkers, and Therapeutic Horizons

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

Committee on Publication Ethics

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Committee on Publication Ethics

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