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.
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