Changing Diagnosis, Treatment and Monitoring of Rare Genetic Disorders in the -Omics Era

Dear Colleagues,

To date, thousands of rare genetic disorders have been identified. Individuals with these disorders have a significantly increased risk of morbidity and mortality. The complex nature of these disorders, combined with a lack of knowledge and expertise, often results in a deficiency of adequate screening methodologies and/or delayed or inconclusive diagnoses. Although a genomic diagnosis may be definitive, the absence of appropriate diagnostic, prognostic, or treatment-responsive biomarkers (or biosignatures) significantly impacts a patient’s quality of life and causes substantial burden to carers, the health system, and the economy.

Understanding disease pathology and being able to screen for and diagnose these disorders through the discovery of novel biomarkers is essential. Furthermore, the application of innovative data analytics and predictive neural networks (combined with metabolomic, proteomic, transcriptomic, lipidomic, and other -omic findings) are accelerating the discovery of rare disease biomarkers and biosignatures.

We invite your contributions to the Special Issue of Metabolites entitled “Changing diagnosis, treatment and monitoring of rare genetic disorders in the -omics era.”. The primary focus of this Special Issue is to showcase studies involving metabolomics and multi-omics data (including approaches to biomarker discovery and applications of new metabolomics technologies to screening, diagnostics, and monitoring). We also encourage submissions relating to “big data” (such as the application of artificial intelligence and neural networks to metabolomic and multi-omic data analyses for biomarker discovery).

Dr. Adviye Ayper Tolun
Dr. Kaustuv Bhattacharya
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 250 words) can be sent to the Editorial Office for assessment.

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-anonymized peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Metabolites 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 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.