Maria Alves Lab

The major goals of my research are to identify and characterize genes and signaling pathways involved in the development of the gastrointestinal tract, as well as understand how changes in these genes lead to intestinal congenital disorders. I have been in this field for more than ten years now, and my work has played a pivotal role in determining how mutations in different genes lead to the development of congenital intestinal disorders, as well as to the understanding of how proteins encoded by these genes contribute to normal gastrointestinal motility and function. Currently, I am the group leader of the Gastrointestinal Genetics group at the Department of Clinical Genetics of the Erasmus University Medical Center and my group focus on the study of three congenital intestinal disorders: Hirschsprung disease, Congenital Short Bowel Syndrome and Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. By using a combination of genetics, molecular biology tools and the zebrafish as an animal model, we aim to identify how these disorders arise and to understand the molecular mechanisms underlying disease pathogenesis. More recentIy, we have also been investigating the composition of the pediatric enteric nervous system at a single cell resolution, to not only expand the knowledge on the different populations of enteric neurons, glia and neural progenitor cells present in the intestine, but also to gain important insights that can be used for the understanding of intestinal neuropathies.