Date: Tuesday 16th July 2025
Time: 12.30 – 13.30
Title: The Non-Coding Exome in Rare Disease: From Diagnoses to Therapies.
Speaker: Prof Nicky Whiffin – University of Oxford.
Biography: Nicky is an Associate Professor and Sir Henry Dale Fellow at the Big Data Institute and the Centre for Human at the University of Oxford. Nicky is also a visiting scientist at the Broad Institute of MIT and Harvard. In 2024, Nicky was awarded at Lister Institute Research Prize. 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. She did postdoctoral work at Imperial College London before moving to Oxford in 2020.
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 note 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.
Location: St Mary’s Hospital, Oxford Road, Manchester.
Cost: Free
Registration: If you would like to attend this lunchtime seminar session, please contact: mrcc@mft.nhs.uk