Nicky Whiffin is an Associate Professor, Sir Henry Dale Fellow, and the co-lead of the research theme in Genomics at the University of Oxford’s Big Data Institute. She is also a research fellow at St Anne’s College and a visiting scholar at the Broad Institute of MIT and Harvard. Nicky’s research uses computational approaches to interpret the role of genetic variants in rare diseases, and to understand how gene regulation can be modified therapeutically. She is an expert in annotation and interpretation of variants in non-coding regions of the genome, for which she has led the creation of clinical guidelines. Nicky was awarded a 2024 Lister Institute Research Prize and the 2025 Balfour Lecture from the UK Genetics Society.

Small nuclear RNAs in rare disease