In September 2020, in the midst of the pandemic, I moved from Imperial College London to Oxford to set up a research team at the Wellcome Centre for Human Genetics.

Our team researches the genetic basis of rare human disease. Although individually rare, rare diseases collectively impact >250 million people globally. Over 80% of rare diseases are thought to be genetic in origin, yet we currently only identify a genetic cause in ~50% of patients. Identifying the genetic cause of disease is immensely valuable for familial risk prediction, effective counselling and personalising treatments. We use computational approaches and statistical techniques applied to large genetic datasets to identify new genetic diagnoses for rare disease patients, aiming to understand new disease biology along the way.

In this talk, I will speak about our current research, but also about my journey in science and my path to becoming a group leader. This wasn’t a role I always saw myself in, having always struggled with confidence. I hope to give an insight into the key steps and importantly people who got me here, and how I am settling in to this new, and often challenging role