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Special Issue "Beyond GWAS: Deciphering Multiple Sclerosis through the Multiple Facets of Genetics"
Deadline for manuscript submissions: closed (30 September 2019).
Interests: Medical genetics; Multiple sclerosis; Systemic lupus erythematosus; Amyotrophic Lateral Sclerosis
Multiple sclerosis (MS) is a complex autoimmune disorder of the central nervous system. During the past decade, our knowledge about the genomics of complex diseases and particularly of multiple sclerosis has greatly improved thanks to the application of genome-wide association studies to large international datasets, which led to the identification of more than 200 susceptibility loci. However, the currently identified regions explain only about 20% of the total heritability of the disease. A recently published study by the International Multiple Sclerosis Genetics Consortium suggests that some of this missing heritability may reside in rare variants.
For most of the associated genetic regions, a fine mapping was never performed, and thus the primarily associated variant has not been identified. Furthermore, few MS risk variants have been functionally characterised.
Like many complex diseases, multiple sclerosis presents a varied clinical picture. Despite the improvements in the knowledge about disease susceptibility variants, so far little is known about the genetic variants involved in disease severity and progression, or about the response to therapy. Uncovering these aspects can open the way leading to personalised medicine.
In this Special Issue about multiple sclerosis genetics, we make an invitation to submit papers that cover the main topics which are still poorly explored in the study of the genetics of multiple sclerosis:
1) fine mapping of MS-associated genomic regions; 2) functional characterization of MS risk variants; 3) the role of rare variants; 4) the search for genetic factors for disease severity, disease progression, or other clinical hallmarks of MS; 5) genes and response to therapy in MS.
Prof. Sandra D´Alfonso
Dr. Nadia Barizzone
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 papers will be 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. Genes is an international peer-reviewed open access monthly 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 1800 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.
- Multiple Sclerosis
- Fine mapping
- Rare variants
- Disease Prognostic marker
- Functional studies