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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The role of untranslated region variants in Mendelian disease: a review
Journal article
Wieder N. et al, (2025), European Journal of Human Genetics
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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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Abstracts from the 57th European Society of Human Genetics (ESHG) Conference: Oral Presentations
Conference paper
(2024), European Journal of Human Genetics, 32, 799 - 903