Special Issue "Molecular and Cellular Mechanisms of Rare Diseases"
Deadline for manuscript submissions: closed (30 September 2021) | Viewed by 15966
Interests: lysosomal storage disorders; vesicular trafficking; endosomal sorting; lysosome biogenesis; mitochondrial diseases; autoimmune disorders
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According to the European definition, a disease is considered as a rare one if it affects less than 1 person in 2.000. However, there are about 7 to 8 thousand different rare diseases. Therefore, even though a single rare disease may only affect a few patients, all rare diseases together place a substantial health burden. Some rare diseases also show a varying geographical distribution, being rare in most parts of the world, but more common in specific, restricted areas. Many rare diseases are of genetic origin and show an enrichment in specific populations.
The patients suffering from rare diseases frequently face the fact that there is no specific or curative therapy available for the disease, and the treatment frequently remains symptomatic. However, in recent years, there has been substantial interest arising towards the characterization of the molecular mechanisms of rare diseases. One important factor that has boosted the interest is the realization that some of the rare diseases may share common molecular mechanisms with more common diseases, and that the information gained over the mechanisms of the rare diseases may help to develop therapies for the common ones. For example, endosomal dysfunction appears to be a common feature between lysosomal diseases, which are rare, and blockbuster diseases such as Alzheimer's disease.
The purpose of this Special Issue is to provide an overview of the cellular and molecular mechanisms of rare diseases, especially of the genetic ones. Both original research articles and reviews are suitable for this special issue. We especially welcome contributions that address the cellular and molecular features that may connect rare diseases to more common ones. Manusripts addressing novel therapeutic prospects are also highly welcome.
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. Cells is an international peer-reviewed open access semimonthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). 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.
- Rare diseases
- genetic diseases
- Orphan diseases