Research Topic

Advances in Genomic and Genetic Tools, and Their Applications for Understanding Embryonic Development and Human Diseases

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Recent advances made in the development of genetic and genomic high-throughput platforms for the use in gene expression and regulation analysis have paved the way for the discovery of promising potential therapies. Next-generation DNA and RNA sequencing, micro-droplet digital PCR and microarray-based CGH are ...

Recent advances made in the development of genetic and genomic high-throughput platforms for the use in gene expression and regulation analysis have paved the way for the discovery of promising potential therapies. Next-generation DNA and RNA sequencing, micro-droplet digital PCR and microarray-based CGH are amongst other useful tools which have arrived on the front line of recent genomic research. Such platforms have greatly contributed to unraveling evidence of genotype-phenotype correlation in different human diseases. In addition, bioinformatic analysis tools of genome annotation and comparison, including genome-wide association studies (GWAS), have aided in data analysis for interpreting genetic variants at the individual level. This has, undoubtedly, unlocked new possibilities for real advances towards personalized medicine for the highly-targeted treatment of disease. Each of these high-throughput genomic and bioinformatic tools has its own limitations and hence further efforts are required to overcome these limitations. It may be possible that using more than one platform for genotype-phenotype deep analysis is a probable effective approach to disentangle the cause and develop treatment of human diseases.

On the other hand, considerable advances have been made in single cell level research using several high-throughput genomic tools. Recent advances in functional genetics research, particularly gene editing using CRISPR technology, has made developing tangible gene therapies for different human diseases very close to reality.

Interestingly, despite continuous progress in developing advanced genomic research and diagnostic tools, conventional options are still widely used and continue to contribute to the knowledge of the field. These include, but are not limited to, real- and quantitative PCR, Sanger sequencing, immunohistochemistry, and Fluorescent in situ hybridization (FISH). These tools remain of use in discovering different biomarkers in human disease research, especially cancer, cardiovascular and neurodegenerative research. In vivo animal models of varying complexity alongside in vitro stem cell research have greatly contributed to many of the above-mentioned advances in cellular and genomic research. However, further effort and innovative research ideas are still needed to fully understand the biology of human diseases.

Studying normal and abnormal gene expression and regulation is key to uncovering the cause of human diseases. It has been postulated that the set of genes which regulate normal embryonic development also become active in a dysregulated signaling machinery in the human diseases’ status. This demonstrates that studying gene expression and regulation in depth during embryonic development using functional approaches parallel to and/or in comparison with that in human disease could be vital to elucidate the causes of these diseases. This will contribute to moving basic research from bench to bedside.

In this multidisciplinary Research Topic, we aim to decipher the complexity of human diseases using basic and advanced genomic/genetic approaches. These include studying gene-gene and gene-environment interactions. Articles elucidating gene function and regulation during embryonic development that could lead to more understanding of the biology of human diseases’ complexity will be considered. We welcome a range of article types including original research, reviews, methods, study protocols, mini-reviews, perspectives, case reports, brief research reports, general commentaries, and opinions.


Keywords: Genetic tools, gene expression and regulation, human diseases, development


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31 January 2020 Manuscript

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Manuscripts can be submitted to this Research Topic via the following journals:

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Topic Editors

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Submission Deadlines

31 January 2020 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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