Perspectives and Opportunities for ALS in the “Omics” Era
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: closed (28 February 2020) | Viewed by 24357
Special Issue Editors
Interests: medical genomics; clinical genetics; bioinformatics; amyotrophic lateral sclerosis; developmental disorders
Special Issues, Collections and Topics in MDPI journals
Interests: neurodegeneration; amyotrophic lateral sclerosis; human genetics; animal models of genetic diseases; zebrafish
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Amyotrophic lateral sclerosis (ALS) is an invariably lethal neurodegenerative disorder characterized by the progressive loss of motor neurons. Despite considerable scientific efforts and significant progress over the last decades, many aspects of the underlying pathogenic mechanisms remain unresolved, and no effective therapy is available yet.
Genetic factors are recognized to play a relevant role in ALS, and the recent outbreak of high-throughput genetic analysis techniques has led to the identification of a new series of genes claiming some association with ALS. Nonetheless, the genetic architecture of ALS appears to be complex, and variants of currently known genes account for only a fraction of the estimated heritability of ALS, explaining 40%–80% of familial ALS, but only 5%–15% of sporadic ALS.
The whole scenario is further complicated by the fact that several genes involved in ALS may also be primarily responsible for other neurological and non-neurological conditions. ALS itself has heterogeneous clinical presentation, with varying involvement of the central nervous system and multiple pathophysiological mechanisms that must be taken into account.
In this Special Issue, we aim to gather together both the extensive reviews and innovative research that explore the changing landscape of ALS diagnosis and therapy in the current era of fast-growing molecular investigation methods. Proposed topics include, but are not limited to, the following aspects:
- ALS-related genes and their possibly diverse roles in determining or modifying different ALS clinical presentations and other associated diseases;
- New strategies for the identification and pathogenic assessment of genetic factors underlying ALS, specifically considering the contribution from high-throughput sequencing methods;
- Interactions between genetic and environmental factors in the etiopathogenesis of ALS. Scientific approaches for the identification and validation of such risk factors based on the availability of large datasets from high-throughput genotyping studies (e.g., Mendelian randomization);
- The role of “omics” technologies (from transcriptomics to proteomics, from microbiomics to pharmacogenomics, etc.) in untangling the genetic architecture of ALS, the underlying pathophysiological processes, the nosology, and the relationship between ALS and other neurological conditions with a partially shared basis (including, for instance, frontotemporal dementia);
- The definition of reliable biomarkers to detect ALS at the early disease stage, to help with differential diagnosis and, moreover, to provide a useful tool for stratifying and monitoring patients with ALS in clinical trials;
- The development of innovative therapeutic strategies tailored to ALS patients’ individual genetic makeup in view of the rapidly developing field of personalized medicine;
- Future perspectives and opportunities in ALS research as a consequence of the implementation of new approaches based on the various “omics” technologies.
Dr. Giuseppe Marangi
Dr. Serena Lattante
Guest Editors
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. 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 2600 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.
Keywords
- Amyotrophic lateral sclerosis
- ALS pathophysiology
- Biomarker
- Genomics
- High-throughput genetic analysis
- Missing heritability
- Oligogenic inheritance
- Environmental risk factors
- Polygenic risk
- Personalized medicine
Benefits of Publishing in a Special Issue
- Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
- Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
- Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
- External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
- e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.
Further information on MDPI's Special Issue polices can be found here.