Nicky Whiffin
Research groups
Nicky Whiffin
Associate Professor / Sir Henry Dale Fellow
Nicky is an Associate Professor and Group Leader at the Big Data Institute and the Wellcome Centre for Human Genetics funded by a Sir Henry Dale Fellowship from the Wellcome Trust and Royal Society. Nicky is also a visiting scientist at the Broad Institute of MIT and Harvard and a Research Fellow at St Anne's College and the Centre for Personalised Medicine.
Nicky leads the Computational Rare Disease Genomics group, which uses computational approaches to interpret the role of genetic variants in rare diseases.
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.
Recent publications
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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Journal article
Nava C. et al, (2025), Nature genetics
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Saturation genome editing ofRNU4-2reveals distinct dominant and recessive neurodevelopmental disorders
Preprint
De Jonghe J. et al, (2025)
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Influence of age and sex on the diagnostic yield of inherited cardiac conditions in sudden arrhythmic death syndrome decedents
Journal article
Gray B. et al, (2024), European Journal of Preventive Cardiology
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Regional nonsense constraint offers clinical and biological insights into rare genetic disorders
Preprint
Blakes A. et al, (2024)
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Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants.
Journal article
Lord J. et al, (2024), Genetics in medicine : official journal of the American College of Medical Genetics, 26