Defining the functional pathology of Hirschsprung Disease

Summary Hirschsprung disease (HD) is an intestinal motility disorder that is typically diagnosed in infants. This project focuses upon understanding the what cell types, other than neurons, are affected in HD.

Project Details

Hirschsprung disease (HD) is an intestinal motility disorder that is typically diagnosed in infants. Enteric nerve cells (neurons) control intestinal motility and in HD these neurons fail to develop in the last portion of the large bowel. The absence of these neurons means that content cannot move passed this region and patients develop constipation that is prolonged and does not resolve. Surgical management is the only treatment option for this disease. Resection of this region and reattachment to a segment of bowel where the enteric neurons are present is considered to be a ‘cure’. However, many patients continue to suffer with lifelong intestinal motility disorders, such as constipation or faecal incontinence, following this intervention. Thus, the absence of enteric neurons is not the only mechanism that negatively impacts colonic function in HD. This lack of basic knowledge about HD pathology is limiting effective treatment options for patients.