A better understanding of complex or polygenic diseases has become a major research topic in the field of human genetics. A common hypothesis in this field is “common disease, common variant”, which suggests that complex diseases are caused by a large set of common but weak disease-associated variants. To find these common variants, genome-wide association studies (GWAS) are being undertaken to detect the genomic loci (and the genes therein) in many common, complex diseases. However, the identified loci usually only account for a fraction of the total genetic risk. This project is based on a complementary hypothesis, namely that besides many common weak mutations, complex diseases also need several rare, but probably stronger, mutations. To test this hypothesis we will work on a highly heritable, complex disorder called Hirschsprung disease (HSCR).
The two PhD students will combine next generation sequencing with expression data generated from enteric nervous system progenitors (in both man and mouse) and functionally analyse potential candidate disease genes in vitro and in vivo to test our hypothesis. Not only will we be able to unravel the genetic background of HSCR, but we will also gain a better insight into how the enteric nervous system develops. These findings may also serve as a model for other complex diseases and establish the importance of combinations of rare, coding and non-coding variants in complex disease.
What do we need?
We are looking for candidates with an MSc in molecular cell biology. They should be highly ambitious, have strong social skills, and the ability to work in a multidisciplinary environment. In addition, the candidates should have a strong interest in bioinformatics/biostatistics.
Scholarship Application Deadline: 11 January 2011
Further scholarship Information and Application
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