Date: Tuesday 21st October 2025
Time: 12.30 – 1.30
Speaker: Dr Jenny Lord, Lecturer in Systems Biology at The University of Sheffield
Title: Splicing and RNA-Seq in rare disease diagnostics
Abstract: Rare disorders cumulatively affect around 1 in 17 individuals. Despite recent advances, around half of patients do not get a diagnosis, even with their whole genome sequenced. Some of these missed diagnoses are due to the “protein-centric” way in which we analyse genetic data. Variants which disrupt splicing are common contributors to rare disorders, but are under ascertained clinically.
In this talk, I will discuss my work improving splicing variant identification and interpretation in rare disease diagnostics. I will focus on my recent work analysing RNA-Seq data from 5,500 individuals with rare disorders in the 100,000 Genomes Project. Through assessment of splicing and gene expression outliers, we are identifying new candidate diagnoses for undiagnosed individuals. I will also discuss my planned research moving forwards in my own research group.