Special Issue "Omics Technologies in Rare Diseases"
Deadline for manuscript submissions: 31 August 2021.
Interests: inborn errors of metabolism; omic technologies; neonatal pathology
Interests: genetics in rare diseases; mass sequencing techniques; transcriptomics; other omic technologies.
High-throughput sequencing has led to a revolution in genetic medicine, particularly in terms of improvements in both the diagnosis and knowledge of the molecular basis of the pathophysiology of rare diseases. However, DNA sequencing seems to be reaching its limit and new approaches and tools are needed to overcome its limitations. Transcriptomic, proteomic, metabolomic, and epigenomic approaches are emerging as useful tools in rare diseases field, allowing not only the identification of new disease mechanisms but also helping us to better understand the information generated by DNA sequencing. Ideally, the integrative use of these tools will change our traditional phenotype-genotype two-dimensional approach, improving our understanding of rare diseases and, therefore, our capacity to diagnose and treat them.
This Special Issue of IJMS aims to describe the actual use and future perspectives of the use of transcriptomic, proteomic, metabolomic, and epigenomic tools in rare diseases, with a special focus on integrative approaches.
Prof. Dr. María Luz Couce
Dr. Emiliano González Vioque
Manuscript Submission Information
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- rare diseases
- DNA methylation
- histone modifications
- Integrative omics