Institute of Human… Research Neurogastrogenetics …


RG Schmitteckert


Dr. rer. nat. Stefanie Schmitteckert


+49 6221 56-35274
+49 6221 56-32680

Research Focus

Hirschsprung disease is a rare, congenital neurogastroenterological developmental disorder representing the main cause of genetically determined, functional intestinal obstruction in childhood. The absence of the enteric nervous system in varying areas of the colon (aganglionosis) leads to impaired and delayed fecal transit, and secondary to the formation of a megacolon. Disturbances in the migration, proliferation, differentiation and/or cell survival of enteric progenitor cells, which migrate into the intestine during embryonic development and form the enteric nervous system, are discussed as the cause of the disease. Due to the complexity and heterogeneity of the disease, the underlying pathomechanisms are poorly understood. To be able to develop new and patient-specific therapeutic approaches in the future, it is essential to decipher the individual genetic background of patients and to elucidate deregulated signaling pathways in detail.

To investigate the complex pathogenesis of Hirschsprung disease in detail, we have therefore developed a complementary research approach that includes clinical, phenotypic, genetic and epigenetic data, as well as functional studies in personalized intestinal cell and tissue models.


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