Date: Tuesday 18th February 2025
Time: 12.30 – 13.30
Title: Unlocking the genomic secrets of complex diseases: High-resolution methods
Speaker: Dr Shilpa Garg, University of Manchester
Abstract: Understanding the genetic underpinnings of complex diseases is essential for advancing precision medicine and improving patient outcomes. In this talk, I will highlight recent breakthroughs in sequencing technologies that uncover hidden genetic signals and structural variations, particularly in challenging, repetitive regions of the genome. To effectively process these cutting-edge data types, I will introduce graph-based methods, with a focus on pangenomic graphs, which offer a robust framework for clinicians and researchers to enhance variant discovery and interpretation.
Family-based approaches are also pivotal in identifying rare disease-causing variants. By leveraging inherited patterns within families, these methods provide deeper insights into genetic inheritance and the underlying mechanisms of disease. These advancements not only improve diagnostic accuracy but also pave the way for more personalized treatment strategies. Integrating these innovative methods into clinical workflows could usher in a new era of diagnosing and treating complex diseases, paving the way for more informed clinical decisions and improved patient outcomes.
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