The genomic aetiology of osteoarthritis
Eleftheria Zeggini is the Director of the Institute of Translational Genomics in Helmholtz Zentrum München in Neuherberg, Germany. Previously she served as a research group leader at the Wellcome Trust Sanger Institute from 2008 to 2018 and an Honorary Professor in the Department of Health Sciences at the University of Leicester in the UK
Thursday 13 February 2020 (12h00 - 13h00) - Génopode - Auditoire A
Osteoarthritis, a serious joint disease for which we currently have no disease-stratifying or modifying therapy, causes pain and functional disability for a quarter of a billion people world-wide. In this talk, I will outline genetic and genomic approaches to improve our understanding of the aetiology of osteoarthritis. We have carried out a genome-wide meta-analysis across >180,000 patients and identify novel disease susceptibility loci. To better pinpoint likely effector genes, we have used chondrocytes, synoviocytes and peripheral blood from over 100 patients to construct a deep molecular quantitative trait locus map of the disease across multiple omics levels. We identify molecular features of disease progression and potentially actionable targets for disease modification and for drug repositioning. We detect patient stratification based on omics profiles, with transcriptional differences demonstrating association with clinical features. By combining large-scale genetics and in-depth functional genomics studies, we hope to help further improve our understanding of this disease of high public health burden.