Defining Cellular Changes in the Colon in Hirschsprung Disease

Hirschsprung disease (HSCR) is a life-threatening condition affecting 1 in 5000 newborns. HSCR is caused by the absence of nerve cells in the colon, resulting in severe constipation and infection. Surgical removal of the affected colon is lifesaving, but over 30% of treated patients still experience symptoms. This thesis explored whether other cells essential for gut movement are also impacted in HSCR. HSCR patient gut samples showed altered smooth muscle function beyond nerve cell dysfunction. Changes to the distribution of various cell types and nerves contributed to abnormalities in gut function. This study advances the understanding of HSCR.