To understand the pathogenesis of Hirschsprung’s Disease (HSCR) (also known as congenital megacolon), a recent collaborative study by Prof. Woody W.Y. Chan and Prof. Sham Mai-har, Professors of the School of Biomedical Sciences (SBS) of The Chinese University of Hong Kong (CUHK) and researchers from The University of Hong Kong (HKU) and University College London (UCL) Great Ormond Street Institute of Child Health in the U.K. has revealed that mutation in the Sox10 gene retarded the migration of neural progenitor or stem cells, leading to a deficiency in neural cells in the gut and thus gut motility or movement problem. The related findings have been published in the international journal Gastroenterology, which can be viewed HERE.

“Our new findings not only unravel the mechanism of how Sox10 mutation leads to HSCR, but also suggest that cadherin-19 could be a potential therapeutic target for HSCR. Therapeutic strategies could be developed to increase the level of cadherin-19 in the gut to help rescue defective cell migration in HSCR patients”, said Prof. Woody Chan, the corresponding author of the publication. “Our study revealed how a genetic mutation could lead to problems with cell-cell interactions and cell movements, expanding our scope for addressing disease mechanisms and treatment options”, added Prof. Sham Mai-har.

The related coverage by the Communications and Public Relations Office, CUHK can be viewed HERE.

(From right) Prof. Woody Chan; Prof. Sham Mai-har; and Prof. Paul K.H. Tam, Chair Professor of Paediatric Surgery from HKU LKS Faculty of Medicine