Skip to ContentSkip to Navigation
Research Department of Genetics
University Medical Center Groningen

TOP grant from ZonMW for Departments of Genetics and Neurosciences

Robert Hofstra (Genetics) and Bart Eggen (Neurosciences) have been awarded a ZonMW ‘TOP’ grant
19 November 2010

Robert Hofstra (Genetics) and Bart Eggen (Neurosciences) have been awarded a ‘TOP’ grant by ZonMW (part of NWO, Netherlands Organisation for Scientific Research). The grant of € 675,000 is for a research project entitled 'Hirschsprung disease as a model to determine the contribution of rare variants to polygenic diseases', which aims to determine genetic aspects of Hirschsprung disease.

Hirschsprung disease is a congenital hereditary disorder characterized by the absence of neurons in the last part of the colon. It is caused by a combination of mutations in different genes. Such diseases are therefore called complex genetic diseases.

In the past 15 years researchers in the Dept. of Genetics, UMCG, and elsewhere have identified 11 genes as being associated to Hirschsprung disease, although these explain only a small part of the total heritability. In this research, they will look for the missing genes and mutations and, in addition to the known, frequently occurring mutations, they will particularly look for rare mutations, something that was almost impossible up to now. However, with advanced DNA sequencing technology, this is now possible.

The mutations and genes the researchers discover will be tested for their functionality to help determine how they contribute to Hirschsprung diseases. The project should show that rare mutations play a more important part in these complex genetic disorders than previously thought. In this way, more insight will be gained into how the disease develops, which should help improve counselling to patients.

Last modified:14 December 2023 08.15 a.m.
View this page in: Nederlands

More news

  • 29 February 2024

    Vici grants for four UG/UMCG scientists

    The Dutch Research Council (NWO) has awarded Vici grants, worth up to €1.5 million each, to Nathalie Katsonis, Edwin Otten and Alexandra Zhernakova. Professor of Coastal Ecology Tjisse van der Heide has also received a Vici grant for research he...

  • 27 February 2024

    New study finds early life economic conditions impact risk of type-2 diabetes in adulthood

    A new study by current and former FEB researchers Rob Alessie, Viola Angelini, Gerard van den Berg, Jochen Mierau and Gianmaria Niccodemi sheds light on the long-term health implications of economic conditions in early life. The study, titled...

  • 05 February 2024

    Three UG researchers nominated for Woman in the Media Award 2023

    Three women affiliated with the RUG/UMCG have been nominated for the Woman in the Media Award 2023: Léonie de Jonge, Myrthe Hol and Iris Sommer. This election aims to encourage female experts and public figures to appear more in the media and to...