Scientific sessions, CRG Group Leader Seminars
Genomics and Disease Group, Bioinformatics and Genomics Programme, CRG
Xavier Estivill graduated in Medicine (MD) and specialised in Haematology at the Autonomous University of Barcelona, and he then got a doctorate in Philosophy (PhD) by the University of London. He is Senior Group Leader at the Centre Genomic Regulation (CRG), Associate Professor of the Pompeu Fabra University (UPF), and Director of the Genomics and Personalized Medicine section of the Quiron-Dexeus Universitary Hospital in Barcelona. He has contributed to the molecular understanding of many human genetic disorders. Current work of his group is focused on the analysis of complex genetic disorders, with special interest in the role of structural variants, epigenetic changes and non-coding RNAs. Recent achievements of his group have been the identification of genetic variants associated with psoriasis, the discovery of toxicity of small RNAs in neurodegenerative disorders, and the definition of a transcriptomics map in European populations. He is particularly interested in translational medical genomics.
Summary of the talk
The identification of the genetic basis of common traits and complex disorders is one of the most challenging areas of research in human genetics. After eight years of intense research on genome wide association studies (GWAS) several hundred loci have been identified showing association to many traits and disease conditions. While the use of common genetic variants in GWAS have been extremely successful in identifying new genes and pathways involved in human disease, the odd ratios of the associations are small and the findings have very little translation in prediction of disease risk. In his talk he will present the approaches that his group are undertaking in the study of several complex disorders. They propose that a myriad of rare genetic variants converge in a limited number of genes and pathways, and that the disease phenotypes are the results of selective combinations of genes in each individual.