A diverse group of cells, and a cartoon showing their genomic features below.

Greg Findlay : Genome Function Laboratory

We want to understand genetic differences and the effects that they can have on a person’s life and health. By developing new methods to study the links between genetic mutations and susceptibility to cancer, we improve diagnostic accuracy and guide treatments tailored to individual patients.

The DNA sequence of the human genome is nearly identical between any two people, yet we each have millions of genetic differences that make us unique. With current technology, we can easily find all the genetic variants in a single person, yet it remains challenging to understand how exactly each variant will impact a person’s life.

Our lab aims to understand which genetic variants predispose us to disease and why this happens on the molecular level. We study this by developing methods to systematically edit the human genome at scale. We can engineer all possible variants in human genes linked to disease, or we can mutate hundreds of thousands of regions across the genome to test which mutations are likely to cause disease. These high-throughput experiments reveal the logic behind how our genes work at a molecular level, and for many people, how their genetic variants will affect their health.

The knowledge we produce experimentally can be massively valuable in cancer research. Working with clinicians, we can identify individuals with an extremely high risk of developing cancer and intervene as early as possible, sometimes even before they become sick. For patients with cancer, our knowledge of specific mutations helps guide targeted treatments that exploit each tumor’s unique vulnerabilities.

This strategy of optimising each person’s care based on their unique DNA represents the promise of precision medicine. Our research will help democratise this growing field by providing patients of all genetic backgrounds with freely available, high-quality data.