Advances in Biomarker Discovery for Rare Diseases
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".
Deadline for manuscript submissions: 20 January 2026 | Viewed by 939
Special Issue Editor
Interests: MNGIE; EE-TP; rare diseases; cell therapies
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
It is estimated that there are between 7000 and 8000 distinct rare diseases that affect more than 350 million individuals globally. For a majority of these rare disease patients, there are no specific therapies where effectiveness has been evidenced in clinical trial studies. The drug development pathway for rare diseases poses inherent challenges, which include small patient populations, heterogeneous clinical presentations, and limited availability of natural history data. Subsequently, rare disease clinical trial failures are common. However, these failures are often not due to a lack of biological effect but rather due to an inadequate study design. In this context, biomarkers have the potential to play a crucial role in complementing clinical outcome measures and supporting the future directions of therapeutic development for rare diseases. Biomarkers can serve as measurable indicators of normal biological or pathological processes and therefore offer the potential to improve our understanding of disease mechanisms and progression and provide a means of monitoring responses to therapeutic interventions. The focus of this edition of Advances in Biomarker Discovery for Rare Diseases is to provide a broad platform for original research and state-of-the-art reviews on novel or established biomarkers that will contribute valuable insights into rare disease mechanisms and progression and/or enhance our capacity to successfully navigate and accelerate the drug development process for rare diseases.
Dr. Bridget E. Bax
Guest Editor
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
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Keywords
- biomarker
- rare diseases
- pathological processes
- cystic fibrosis
- Duchenne muscular dystrophy
- Ehlers-Danlos syndrome
- haemophilia
- sickle cell disease
- primary biliary cholangitis
- fabry disease
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Related Special Issues
- Biomarkers in Rare Diseases in International Journal of Molecular Sciences (16 articles)
- Biomarkers in Rare Diseases 2.0 in International Journal of Molecular Sciences (14 articles)
- Biomarkers in Rare Diseases 3.0 in International Journal of Molecular Sciences (5 articles)
