N.Whiffin - The non-coding exome in rare disease: from diagnosis to therapies

Nicky Whiffin, Associate Professor and Sir Henry Dale Fellow, Big Data Institute and Centre for Human Genetics, University of Oxford Research Fellow, St Anne’s College, University of Oxford Visiting Researcher, Broad Institute of MIT and Harvard speaks on "The non-coding exome in rare disease: from diagnosis to therapies".

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.