Jump to top menu Jump to main menu Jump to content
Research group/lab  |  PI Prof. R.M.W. Hofstra

GI-Genetics Hirschsprung disease (HSCR)

Which genetic factors determine the development of the gastrointestinal (GI) tract, and how do these genetic factors contribute to disease development?

About our research group/lab

Our research

Background information

Functional disorders of the GI tract are among the most frequent disorders in the general population. Understanding GI-related disorders will help improve the clinical management of these disorders and might serve as a starting point for the development of new therapeutic interventions.

Overall aim

Our research has two main objectives. First, find genetic factors that determine the length and strength of the GI tract, in particular the small intestine and the colon; and second, identify which genetic factors are important for the development of the enteric nervous system. This system is a network of neurons and glial cells  located along the length of the GI tract and represents an important component of the autonomic nervous system.

The focus of our research lies on congenital short bowel disease, megacystis microcolon intestinal hypoperistalsis syndrome, intestinal atresia and Hirschsprung disease (HSCR).

Research focus areas

The work performed in the group includes all kinds of molecular genetic techniques, such as micro-array analysis (both expression profiling and high density genotyping), next generation sequencing, and a range of protein analyses and functional assays. We also generate zebrafish (disease) models with the use of gene editing techniques.

Our projects

Key Publications

A complete overview of publications can be found here:

Robert Hofstra.


Collaborations within Erasmus MC

  • Department of Congenital Anatomical Abnormalities.
  • Department of Hereditary and congenital disorders.
  • Department of Clinical Genetics.

Collaborations outside Erasmus MC