Biography
I have spent almost all my career investigating the genetic epidemiology of common diseases; I did my PhD in cardiovascular genetics at UCL before moving to Cambridge to work on the genetics of hormonal cancers.
Here, I set up and continue to supervise the wet-lab within the Centre for Cancer Genetic Epidemiology (CCGE). Our team lead the high-throughput genetic analysis (sample collection, genotyping and sequencing) that underpins the work done by other teams within the CCGE and in international cancer association consortia: particularly the Breast Cancer Association Consortium (BCAC) and the Radiogenomics Consortium (RGC).
I lead the fine scale mapping of breast cancer risk loci, with the aim of defining the many genetic risk variants that are directly responsible of altering risk of breast cancer.
Since my diagnosis with autoimmune arthritis I have represented disabled staff within the Clinical School and am currently the University Disability and Wellbeing Champion. I apply my epidemiological experience to encourage staff and students from very diverse backgrounds, to feel they belong in this tradition-filled University.
Research
Along with international collaborators, we conducted the first Genome Wide Association Study (GWAS) into breast cancer risk in 2005 and, since then, have defined more than 150 regions of the human genome that affect a person’s risk of developing breast cancer. Common genetic variants in these regions have subsequently been combined to create a Polygenic Risk Score (PRS) which predicts a woman’s lifetime risk of developing breast cancer. This information is already been used to tailor the optimal frequency of mammograms needed to detect and treat breast cancer at an early stage.
