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10Nov 2017

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Thesis defense Vincent Blomen

Generating mutations in haploid human cells is a powerful method to uncover new links between genes and phenotypes, and examine genetic interactions in human cells. Vincent Blomen has demonstrated that during his PhD research. He will defend his thesis on November 14th at Utrecht University.

The connection between an individual's genetic makeup (genotype) and an individual's observable traits (phenotype) is often unclear. Even genetic disorders that are caused by a defect in only a single gene can manifest themselves differently in affected patients. The precise consequence of genetic mutations is often difficult to predict. That's because genes function in complex genetic networks where gene function can be influenced by the action of other genes or the environment.
Generating mutations on a large scale in human cells has been technically challenging. This can be circumvented by using human haploid cells, which contain just one copy of its genes. These cells provide a good model for studying the effect of mutations and their contribution to disease-relevant phenotypes. Haploid cells can also be used for research on gene-environment and gene-gene interactions.
Blomen and his colleagues applied this approach to define a set of around 2.000 genes required for cultured human cells to grow, and to generate the first mutation-based genetic-interaction map in human cells. They also showed that it is possible to generate genetic wiring maps that give an overview of the genes that influence cellular traits. These approaches can be applied to study resistance mechanisms against pathogens or drugs, and genetic interactions, and also to look for disease modifiers.
Blomen's thesis can be downloaded here.

Details of the defense
Vincent Blomen will defend his thesis on Tuesday November 14th, 12.45pm. Location: University Hall, Domplein 29, 3512 JE Utrecht. The title of his thesis is: Studying disease-linked phenotypes using haploid genetics. His promotor is Thijn Brummelkamp (Netherlands Cancer Institute).


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