Xavier Estivill is the Director of the Genes and Disease Programme at the Centre for Genomic Regulation, Barcelona, Spain. He graduated in medicine and surgery in 1979 and received his PhD in 1987 from the Universitat Autònoma de Barcelona, Spain. His research group focuses on the analysis of the variability of the human genome at the nucleotide and genomic levels and their relation with disease predisposition. The group has contributed to the detection of genetic variants involved in hearing impairment, anxiety and eating disorders. This research has led to the identification of SNPs in BDNF and NTRK2 that predispose to eating disorders and several gene variants involved in hearing loss. The group is interested in studying the contribution of non-coding RNAs and segmental duplications to human disease.