Professor Whiffin is an Associate Professor and Sir Henry Dale Fellow at the Big Data Institute and Centre for Human Genetics at the Nuffield Department of Medicine. She is also a Research Fellow at St Anne’s College with the Centre for Personalised Medicine, and a visiting scientist at the Broad Institute of MIT and Harvard University.
Every year the Lister Institute of Preventive Medicine selects six new Lister Fellows, each one an exceptional early-career researcher in biomedical science. Lister Prize recipients each receive a lump sum of £300,000 to spend on furthering their research, which can be flexibly spent on staffing, equipment and other research costs.
Over 300 million people globally have a rare disease and 80% of rare diseases are thought to be genetic. Currently, disease-causing genetic mutations are only looked for in the 1.5% of our DNA that directly encodes proteins. But through this approach, we find the genetic cause of disease for less than half of all rare disease patients. Professor Whiffin's team researches genetic variants outside of protein-coding regions of the DNA (in the other 98.5%) to find new diagnoses for patients and to understand more about gene regulation.
Professor Whiffin said 'I am delighted to have been awarded a Lister Institute Research Prize. I am honoured to join an incredible list of past and current Fellows and I am particularly looking forward to the annual meetings and the opportunity to meet the other fellows and learn more about their science and careers.
'The flexibility of the Lister Prize is unique. It will allow me to bring expertise into my team that is hard to fund through conventional university salary scales, including a software engineer to support the development of open source tools to enable translation of our research into clinical settings.'