Nicola Whiffin is Associate Professor at the University of Oxford. She has broken new ground in the investigation of variation in non-coding regions of the genome for the diagnosis of rare genetic disease. Her standout contribution has been the discovery of ReNU syndrome, a rare disorder causing severe epilepsy and learning difficulties, predicted to affect over 100,000 people worldwide. This discovery is one of the largest single-gene rare disease discoveries in the last 10 years in terms of numbers of patients impacted. She is also a very collaborative scientist, leading a global collaboration involving members in the UK, Europe, US, and Australia to describe ReNU syndrome.