Nicky Whiffin

Nicky is an Associate Professor / Group Leader and Wellcome Career Development Award Fellow at the Big Data Institute and the Centre for Human Genetics. She is also a visiting scientist at the Broad Institute of MIT and Harvard, a member of St Anne's College, and a 2024 Lister Institute Research Fellow.

Nicky leads the Computational Rare Disease Genomics group, which specialises in analysis of large genome sequencing datasets to identify genetic variants that cause rare diseases and to identify novel therapeutic targets. Nicky is particularly interested in non-coding regions of the genome and gene regulation. She is an expert in the annotation and interpretation of non-coding variants, for which she has led the creation of clinical guidelines. In 2024, her team led a global collaboration that identified variants in a non-coding RNA gene RNU4-2 as a cause of a remarkably prevalent neurodevelopmental disorder, ReNU syndrome. Nicky was recently awarded the 2025 Balfour Lecture from the UK Genetics Society.

Nicky’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.