Nicky Whiffin is an Associate Professor at the University of Oxford’s Big Data Institute. She is also a member of St Anne’s College, University of Oxford and is a visiting researcher at the Broad Institute of MIT and Harvard.

Nicky leads a research team that specialises in analysis of large genome sequencing datasets to identify genetic variants that cause rare diseases. She is particularly interested in studying parts of the genome that don’t encode proteins (‘non-coding’ regions).

Nicky led the development of the first clinical guidelines for interpretation of non-coding variants and her team recently led a global collaboration that identified variants in RNU4-2 as a cause of ReNU syndrome.

Nicky was recently awarded a 2024 Lister Institute Research Prize, a Wellcome Career Development Award, and the 2025 Balfour Lecture from the UK Genetics Society.