Molecular Insights into Rare Diseases: From Pathogenesis to Innovative Therapies
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: 30 September 2025 | Viewed by 56
Special Issue Editor
Interests: Wilson’s disease; copper toxicity; iron toxicity; oxidative stress; inflammation; neurodegeneration; chronobiology; psychoneuroimmunology; cancer immunity
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Rare diseases are life-threatening or chronically disabling diseases that affect 1 in 2,000 people or less, and they are estimated to number from 7,000 to 9,000. Although each rare disease has a low incidence, their vast number means that 6 to 8 percent of the population suffers from them.
Rare diseases are characterized by a wide complexity and variety of clinical manifestations—they can include malformations, intellectual disabilities and neurological, dermatological, ophthalmological, cardiological, nephrological, hepatic, endocrine and other diseases. Rare diseases also include some rare cancers, autoimmune diseases and infectious diseases.
For many years, there was a misconception that there was no need to make a diagnosis for diseases for which there was currently no treatment. Currently, many research groups around the world conduct numerous scientific and clinical studies aimed at understanding the pathogenesis of individual diseases, which allows for improvements to diagnostic and therapeutic methods, including gene therapies, molecularly targeted treatment, CRISPR-mediated DNA editing and others.
Due to the large scale of the problem posed by rare diseases and disorders, as well as the invaluable importance of molecular studies for a better understanding of their pathogenesis, which allows for the improvement of diagnostic and treatment methods, we have decided to gather together publications on the above issues in our journal. We invite you to submit manuscripts containing information that will contribute to further improving understanding of the pathogenesis, diagnosis and treatment of rare diseases.
Prof. Dr. Grażyna Gromadzka
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.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
Keywords
- rare diseases
- orphan disorders
- orphan drugs
- gene therapy
- precision medicine
- biomarkers in rare diseases
- gene therapy
- CRISPR therapy
- CRISPR-mediated DNA editing
- CRISPR technology
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