The Biology of Genomes (2008) with Xavier Estivill Interviewed by Chris Gunter

Dr. Xavier Estivill is the Director of the Genes and Disease Programme of the Centre for Genomic Regulation, and a... » More

Dr. Xavier Estivill is the Director of the Genes and Disease Programme of the Centre for Genomic Regulation, and a Professor of the Pompeu Fabra University in Barcelona. Dr Estivill gained his doctorate of Medicine at the Autonomous University of Barcelona in 1987, and his PhD at the University of London in 1995, for his studies on the molecular genetics of cystic fibrosis. He has contributed to the identification and analysis of a large number of genes involved in monogenic diseases and to the understanding of structural variability of the human genome and predisposition to disease. Some achievements of his group (present and past) are the characterisation of phenotypes due to mutations in the cystic fibrosis gene, the identification of the genes that cause cystinuria, the detection of common mutations for hearing loss, the identification of genes involved in Down syndrome, and the molecular mechanisms responsible for neurofibromatosis. Currently, his group is studying the molecular basis of common disorders and variability at the structural level, and evaluating the contribution of non-coding RNAs in neurological and psychiatric disorders. He is promoting the “European profiles of structural and sequence variation of the human genome in Disease” project (EUVADIS), which will use high-throughput -omic technologies to dissect the human genome of 1000 subjects for ten common human disorders at the sequence level. The project aims to integrate the biological data of medical conditions for the prevention, diagnosis and treatment of common human diseases, and to foster the implementation of genomic medicine at the individual and collective levels.
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