Associate Professor and Sir Henry Dale Fellow, Big Data Institute and Centre for Human Genetics, University of Oxford, UK
The non-coding exome in rare disease: from diagnosis to therapies
Host: M. Baralle
Abstract
Less than a quarter of exonic sequence in humans encodes proteins. Larger proportions
encode untranslated regions (UTRs) and non-coding RNAs. I will talk about our recent
work that has demonstrated the importance of these regions in rare disease. In particular,
I will highlight variants in UTRs that impact translational regulation, and variants in the
non-coding RNA RNU4-2 that are a frequent cause of neurodevelopmental disorders.
Finally, I will cover ongoing work on how UTR-mediated gene regulation could be
targeted therapeutically.
Bio
Dr Nicky Whiffin is an Associate Professor, Sir Henry Dale Fellow, and co-lead of the
research theme in Genomics at the Big Data Institute and Centre for Human Genetics
at the University of Oxford. She is also a research fellow at St Anne’s College, University
of Oxford 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, particularly those that impact gene regulation. She is an expert in the
annotation and interpretation of variants in non-coding regions of the genome, for
which she has led the creation of clinical guidelines, and has developed numerous
open-source tools.
International Seminar Programme
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