Research Topic

Genetic Studies of Immune Dysregulation: Exploration of the Knowns and Unknowns with Genomics

About this Research Topic

Immunogenetics is an emerging field of interplay between genomics and the immune system. In the last 10 years more than 200 genetic causes of primary immunodeficiencies or immune dysregulation have been described. The genetic etiology of many immunological diseases, with a spectrum spanning from immunodeficiency to autoimmune diseases, remains under-recognized or largely unknown. Genomic assays, such as chromosomal microarray, exome or genome sequencing, have generated remarkable data allowing investigation of variations at genome-wide scale. Implementation of genomic approaches in patients with immune dysregulation have dramatically expanded the understanding of genetic etiology and improved patient care. The massive amount of genomic data provides unprecedented opportunities for novel genomic and phenomic analyses, functional characterization and interpretation of variants, conceptualization of novel biological mechanisms and application in clinical settings.

This Research Topic aims to cover how genomic data are utilized to assist the improved understanding of immune dysregulations and apply them in clinical settings. The research can be related to the following topics (1) demonstration of newly developed methods and/or tools that facilitate genomic data analysis and interpretation, and improved analytical and/or clinical utility; (2) novel variations or genes identified by genomic assays that contribute to new understandings on immune diseases; (3) functional characterization shedding light on the altered biological function that is new to the understanding of disease mechanisms; (4) representative cases showing establishment of molecular diagnosis and its influence on patient care.

Within the scope of immunogenetics, potential subjects include but not limited to:

• Development of new tools or methods facilitating genomic data analysis and interpretation
• Phenotype-genotype correlation studies established from large patient cohorts
• Knowledge-supplementing novel variations with solid genetic and/or functional evidence
• Discovery of new genetic mechanisms with solid genetic and/or functional evidence
• Clinical care influenced by genomics
• Both original investigation and case reports will be considered.


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.

Immunogenetics is an emerging field of interplay between genomics and the immune system. In the last 10 years more than 200 genetic causes of primary immunodeficiencies or immune dysregulation have been described. The genetic etiology of many immunological diseases, with a spectrum spanning from immunodeficiency to autoimmune diseases, remains under-recognized or largely unknown. Genomic assays, such as chromosomal microarray, exome or genome sequencing, have generated remarkable data allowing investigation of variations at genome-wide scale. Implementation of genomic approaches in patients with immune dysregulation have dramatically expanded the understanding of genetic etiology and improved patient care. The massive amount of genomic data provides unprecedented opportunities for novel genomic and phenomic analyses, functional characterization and interpretation of variants, conceptualization of novel biological mechanisms and application in clinical settings.

This Research Topic aims to cover how genomic data are utilized to assist the improved understanding of immune dysregulations and apply them in clinical settings. The research can be related to the following topics (1) demonstration of newly developed methods and/or tools that facilitate genomic data analysis and interpretation, and improved analytical and/or clinical utility; (2) novel variations or genes identified by genomic assays that contribute to new understandings on immune diseases; (3) functional characterization shedding light on the altered biological function that is new to the understanding of disease mechanisms; (4) representative cases showing establishment of molecular diagnosis and its influence on patient care.

Within the scope of immunogenetics, potential subjects include but not limited to:

• Development of new tools or methods facilitating genomic data analysis and interpretation
• Phenotype-genotype correlation studies established from large patient cohorts
• Knowledge-supplementing novel variations with solid genetic and/or functional evidence
• Discovery of new genetic mechanisms with solid genetic and/or functional evidence
• Clinical care influenced by genomics
• Both original investigation and case reports will be considered.


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.

About Frontiers Research Topics

With their unique mixes of varied contributions from Original Research to Review Articles, Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author.

Topic Editors

Loading..

Submission Deadlines

01 November 2020 Abstract
01 March 2021 Manuscript

Participating Journals

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

Loading..

Topic Editors

Loading..

Submission Deadlines

01 November 2020 Abstract
01 March 2021 Manuscript

Participating Journals

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

Loading..
Loading..

total views article views article downloads topic views

}
 
Top countries
Top referring sites
Loading..