Research Topic

Cross Talk Between Genomics and Epigenomics in Human Complex Genetic Diseases:- Forward path for Diagnostics and Therapeutics

About this Research Topic

“Epigenetics” provides an explanation about how a single genotype can result into multiple phenotypes. This field refers to the study of heritable changes and includes key processes of DNA methylation, chromatin modifications, nucleosome positioning, and alterations in non-coding RNA profiles. Disruptions in epigenetic processes can lead to altered gene expression and affect the cellular genetic signatures. Epigenetics plays an important role in the aetiology of various disease conditions including complex genetic diseases, particularly chromosomal as well as neurological disorders.
Epigenome is labile and thus can get modified in response to extrinsic factors including environment, diet, and even behavior. Although such plasticity is beneficial for an organism to adapt quickly, this can also confer increased risk to certain diseases. There has been enormous progress made in understanding the crosstalk between human genetic and epigenetic machinery. Epigenetics as a therapeutic strategy is a novel and emerging filed where various epigenetic modifications such as DNA methylation and Histone modifications are identified as diagnostic markers for cancers. In fact, clinical trials have shown that low doses of DNA methylation inhibitors (5 azacytidine) can be effective in the treatment of some of leukaemias. In addition, Non coding RNAs are also identified as candidates for epigenetic based therapeutics in cancer and various genetic syndromes. Gene therapy is an evolving filed where different genetic therapeutic ways are considered for treating rare genetic disorders. Nevertheless, there are still gaps in our understanding of the cross functional system for genetic and epigenetic machinery in different human genetic diseases. A better understanding of the molecular basis of this cross-talk will play a central role in improving diagnostics and prognostics of complex genetic disorders, thus aiding in the development of targeted therapeutics for these diseases.

This Research Topic aims to present the latest research in the field of epigenetic and genetic crosstalk and applications in the diagnostic and or therapeutics for human complex genetic diseases. It will include, but not be limited chromosomal disorders, neurological and developmental disorders. We welcome Original Research , Reviews, Methods and Mini-Reviews that explore, but are not limited to, the following list of themes:

• Investigation of epigenetic deregulations in human complex genetic disorders, with a focus on human chromosomal disorders , and developmental diseases
• Developments for novel epigenetic targeted therapeutic approaches for human genetic and epigenetic diseases
• Method development for screening of epigenetic drugs
• Exploring new model systems to understand the epigenetic and genetic cross talks in human genetic disorders/diseases
• Development of epigenetic/ genetic biomarkers for human genetic diseases


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

“Epigenetics” provides an explanation about how a single genotype can result into multiple phenotypes. This field refers to the study of heritable changes and includes key processes of DNA methylation, chromatin modifications, nucleosome positioning, and alterations in non-coding RNA profiles. Disruptions in epigenetic processes can lead to altered gene expression and affect the cellular genetic signatures. Epigenetics plays an important role in the aetiology of various disease conditions including complex genetic diseases, particularly chromosomal as well as neurological disorders.
Epigenome is labile and thus can get modified in response to extrinsic factors including environment, diet, and even behavior. Although such plasticity is beneficial for an organism to adapt quickly, this can also confer increased risk to certain diseases. There has been enormous progress made in understanding the crosstalk between human genetic and epigenetic machinery. Epigenetics as a therapeutic strategy is a novel and emerging filed where various epigenetic modifications such as DNA methylation and Histone modifications are identified as diagnostic markers for cancers. In fact, clinical trials have shown that low doses of DNA methylation inhibitors (5 azacytidine) can be effective in the treatment of some of leukaemias. In addition, Non coding RNAs are also identified as candidates for epigenetic based therapeutics in cancer and various genetic syndromes. Gene therapy is an evolving filed where different genetic therapeutic ways are considered for treating rare genetic disorders. Nevertheless, there are still gaps in our understanding of the cross functional system for genetic and epigenetic machinery in different human genetic diseases. A better understanding of the molecular basis of this cross-talk will play a central role in improving diagnostics and prognostics of complex genetic disorders, thus aiding in the development of targeted therapeutics for these diseases.

This Research Topic aims to present the latest research in the field of epigenetic and genetic crosstalk and applications in the diagnostic and or therapeutics for human complex genetic diseases. It will include, but not be limited chromosomal disorders, neurological and developmental disorders. We welcome Original Research , Reviews, Methods and Mini-Reviews that explore, but are not limited to, the following list of themes:

• Investigation of epigenetic deregulations in human complex genetic disorders, with a focus on human chromosomal disorders , and developmental diseases
• Developments for novel epigenetic targeted therapeutic approaches for human genetic and epigenetic diseases
• Method development for screening of epigenetic drugs
• Exploring new model systems to understand the epigenetic and genetic cross talks in human genetic disorders/diseases
• Development of epigenetic/ genetic biomarkers for human genetic diseases


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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Submission Deadlines

27 June 2021 Manuscript

Participating Journals

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

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Topic Editors

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Submission Deadlines

27 June 2021 Manuscript

Participating Journals

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

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