Jolanda van Leeuwen

Axes de recherche |

Axes de recherche

Systematic identification of genetic modifiers

The sequencing of thousands of humans has led to the identification of people that are healthy despite carrying mutations that have been directly associated with severe early-onset Mendelian diseases, such as cystic fibrosis. A plausible explanation is that these individuals carry secondary mutations elsewhere in the genome that can compensate for the deleterious effect of the disease-associated mutation, a phenomenon referred to as genetic suppression. However, we currently lack the expertise to identify these suppressor mutations among the millions of variants scattered across the genomes of these resilient individuals.

In our lab, we map genetic suppression interactions on a large scale using various model systems, robotics, and high-throughput CRISPR-Cas9 genome editing screens. By mapping thousands of interactions, we aim to identify the rules and properties of this type of genetic interaction. Understanding the general mechanisms of suppression will aid the identification of the genes in which suppressing mutations can occur, which in turn will help define molecular mechanisms of disease and identify potential drug targets to guide the development of therapeutics.

Students will be able to choose between multiple available projects.

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Unicentre - CH-1015 Lausanne
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Tél. +41 21 692 11 11
Swiss University