The 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. The group has set up the analytical basis for the study of human genome diversity throughout genotyping nucleotide variants. Thus, the group has set up the Barcelona genotyping facility, which is a join centre (CeGen) with the Pompeu Fabra University, and is supported by Genome Spain. Through the CeGen facility, the group is searching for genes involved in the modification of non-syndromic hearing loss, the analysis of clinical variability in the response to methadone and to nicotine treatments, the study of several psychiatric disorders, and the analysis of non-coding and small RNAs in the susceptibility to complex disorders.

We acknowledge the financial contribution of the Spanish Ministry of Science and Technology and the European Regional Development Fund (ERDF) to the development of the project “Overexpression effects in Down syndrome and anxiety disorder, and study of the predisposition to trisomy 21 and genetic mutation DUP25” (ref. SAF2002-00799).