Research Topic

Hirschsprung Disease: Genetic Susceptibility, Disease Mechanisms and Innovative Management in the Multi-Omics Era

About this Research Topic

The era of high-throughput technologies has the impetus to accelerate its scale dramatically in the 21st century. Genomics, epigenomics, transcriptomics, proteomics, metabolomics, glycomics, and lipidomics are offering an outstanding opportunity for holistic investigation and contextual pathogenetic understanding of gastrointestinal disease for precise diagnosis and tailored treatment. Hirschsprung disease is a heterogenous disease with a incidence of 1.5 (Caucasians) to 2.8 (Asians) per 10,000 births. It is characterized with varying lengths of lack of ganglion cells, a male preponderance, a variable familial incidence, and occasional syndromic involvement.



Hirschsprung disease is a puzzling disease with relatively better knowledge today than in the 20th century, but still far behind numerous other gastrointestinal disease. It is a disease which affects patients and families, and a cure is exclusively surgical at this time. The promise of the Omic-Era is encouraging because the goal is to identify niches where researchers and physicians can meet and improve the outcome of patients affected with this terrible disease.



This Research Topic welcomes themes from basic science of the enteric nervous system to innovative medical and surgical approaches to Hirschsprung disease.


Keywords: Hirschsprung disease, aganglionosis, genomics, pathogenesis, therapy


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.

The era of high-throughput technologies has the impetus to accelerate its scale dramatically in the 21st century. Genomics, epigenomics, transcriptomics, proteomics, metabolomics, glycomics, and lipidomics are offering an outstanding opportunity for holistic investigation and contextual pathogenetic understanding of gastrointestinal disease for precise diagnosis and tailored treatment. Hirschsprung disease is a heterogenous disease with a incidence of 1.5 (Caucasians) to 2.8 (Asians) per 10,000 births. It is characterized with varying lengths of lack of ganglion cells, a male preponderance, a variable familial incidence, and occasional syndromic involvement.



Hirschsprung disease is a puzzling disease with relatively better knowledge today than in the 20th century, but still far behind numerous other gastrointestinal disease. It is a disease which affects patients and families, and a cure is exclusively surgical at this time. The promise of the Omic-Era is encouraging because the goal is to identify niches where researchers and physicians can meet and improve the outcome of patients affected with this terrible disease.



This Research Topic welcomes themes from basic science of the enteric nervous system to innovative medical and surgical approaches to Hirschsprung disease.


Keywords: Hirschsprung disease, aganglionosis, genomics, pathogenesis, therapy


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

31 December 2021 Abstract
31 March 2022 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

31 December 2021 Abstract
31 March 2022 Manuscript

Participating Journals

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

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