Dr Nicky Whiffin – Big data, statistics, and diagnosing rare genetic disease

This lecture was given by Dr Whiffin to the Oxford University Personalised Medicine Society on 25 May 2022. Dr Whiffin joined the Wellcome Centre for Human Genetics as a Group Leader and Sir Henry Dale Fellow, supported by the Wellcome Trust and Royal Society, in Sept 2020. She is also a visiting scientist at both the Wellcome Sanger Institute and the Broad Institute of MIT and Harvard. She leads the Computational Rare Disease Genomics group, which uses computational approaches to interpret the role of genetic variants in rare diseases. Dr Whiffin’s undergraduate degree was in Natural Sciences at the University of Cambridge before she studied for a PhD in genetic susceptibility to Colorectal Cancer at the Institute of Cancer Research in London. During her postdoctoral work at Imperial College London, she developed tools and methods to improve interpretation of variants identified in patients with Inherited Heart Conditions.