The mechanism of recombination and its impacts on human mutation and disease

The chromosomes we inherit from our parents are not exact copies but mosaics of their chromosomes. These mosaics are created during formation of eggs and sperm when cells cut chromosomes up and re-attach them, sometimes in new combinations. Many of the molecular details of this process are not well understood. I discovered that our cells make an unexpectedly large number of errors in this process leading to changes in DNA (mutations). I aim to understand the nature of these mutations and their consequences on our health using statistical analyses of human genetic and disease datasets (e.g., biobanks). I will use experiments in genetically-engineered mice to understand processes that ensure broken chromosomes are repaired. I will also identify and investigate specific proteins that are implicated in generating mutations. These studies will enhance our understanding of this critical biological process, together with its multi-generational impacts on human health and diversity.