Functional Genomics

Breakfast Workshop D

Date/Time: Saturday, May 2, 2020 - 7:30 AM to 8:30 AM
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From OA Risk Gene(s) to Underlying Disease Mechanisms

OA is a highly polygenic disease and so far, almost 100 OA risk-conferring association signals have been mapped in the human genome. An overwhelming majority of the associated DNA variants reside in non-protein-coding regions of the genome and, as such, OA genetic susceptibility is presumed to act principally via changes to gene expression. In this session, I will describe the experiments that are undertaken to move from the association signals toward a functional analysis of the genetic risk and how these studies contribute to our understanding of OA disease mechanisms. The session will encompass in-silico analyses and lab-based experimental studies, and will cover genetics, epigenetics, genomics and functional studies in disease-relevant primary cells, tissues and cell lines.