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Updated: Aug 17, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Molecular insights into congenital disorders of the digestive system
Michael D Bates1, Gail H Deutsch
1Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.
Abstract:
Recent work is providing new insights into molecular mechanisms of digestive system development and their alteration in clinically significant disorders. An understanding of these mechanisms has largely been gained through the use of animal models, because many of the basic processes required in embryogenesis are functionally conserved among species. Such conserved factors include cell-cell signaling pathways and the regulation of gene expression. Disruption of these pathways have been implicated in several congenital disorders of the digestive system, including Hirschsprung disease, malrotation, altered sphincter development, Meckel diverticulum, biliary atresia, Alagille syndrome, pancreatic heterotopias, and pancreatic agenesis. In this review, we highlight recent studies in digestive system development, which elucidate mechanisms underlying congenital disorders of the human digestive system.
Insights
This review explores molecular mechanisms in digestive system development and congenital disorders. Understanding conserved pathways in animal models offers insights into human digestive system abnormalities.
Area of Science:
- Developmental Biology
- Gastroenterology
- Molecular Medicine
Background:
- Digestive system development relies on conserved molecular mechanisms across species.
- Understanding these mechanisms is crucial for addressing congenital digestive disorders.
- Animal models are key to deciphering embryogenesis and disease pathways.
Purpose of the Study:
- To review recent advances in understanding digestive system development.
- To elucidate the molecular mechanisms underlying congenital human digestive disorders.
- To highlight the role of conserved pathways in embryogenesis and disease.
Main Methods:
- Review of recent scientific literature on digestive system development.
- Analysis of studies utilizing animal models to investigate conserved embryogenesis processes.
- Examination of research linking molecular pathway disruptions to congenital disorders.
Main Results:
- Identified conserved cell-cell signaling and gene regulation pathways in digestive development.
- Linked disruptions in these pathways to various congenital digestive disorders.
- Highlighted the utility of animal models in understanding human developmental conditions.
Conclusions:
- Molecular mechanisms of digestive development are largely conserved.
- Disruptions in these conserved pathways contribute to congenital digestive disorders.
- Further research in developmental biology can inform clinical strategies for digestive abnormalities.
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