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Aims and Scope

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.
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