The goal of my thesis is to study human developmental biology. Developmental biology is the study of how humans grow from a single cell to form a fully working organism, and how things can go wrong in the process. The study of developmental biology is the study of lineages. As cells divide, they also differentiate choosing one fate over another. The choice a cell makes will determine the fate of its descendants. To study lineages, we need markers to track them. Today, most developmental biology studies are based on the mouse, since we rely on the introduction of artificial genetic markers to label a cell lineage. I propose to use a naturally occurring marker: Somatic mitochondrial mutations. Mitochondria are the "powerhouse" of our cells. They also kept their own genome through 3 billion years of evolution. As cells grow and divide, they replicate their mitochondrial genome many times (possibly hundred to hundreds of thousands). In doing so, they can acquire mutations. These mutations will then be carried over throughout the progeny of the cell. I am developing a fast, quantitative and inexpensive method to study these mitochondrial mutations. Using this method, it is possible to obtain mutation "maps" of a human tissue section. From these maps, we can infer the "developmental distance" (i.e. the last time they had a common ancestor in the development) between two cell groups.By the repeated process of mapping many samples, cell types and pathologic lesions, I believe we will ultimately be capable of understanding the process of human development. In doing so we also might understand how it goes wrong, and how to deal with it.

My PhD is a collaboration between EPFL and MIT.

Study mutation patterns of mitochondrial DNA in human tumors.