Nicky Whiffin
Group Leader / Sir Henry Dale Fellow
Nicky joined the Wellcome Centre for Human Genetics as a Group Leader and Sir Henry Dale Fellow, supported by the Wellcome Trust and Royal Society, in Sept 2020. Nicky is also a visiting scientist at both the Wellcome Sanger Institute and the Broad Institute of MIT and Harvard.
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
-
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
Journal article
Whiffin N. et al, (2020), Nature Communications, 11
-
Annotating high-impact 5’untranslated region variants with the UTRannotator
Journal article
Zhang X. et al, (2020)
-
The effect of LRRK2 loss-of-function variants in humans
Journal article
Whiffin N. et al, (2020), Nature Medicine, 26, 869 - 877
-
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
Journal article
Zhang X. et al, (2020)
-
Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease
Journal article
Whiffin N. et al, (2019)