The global objective of the Genes and Disease Programme is to carry out research on the molecular basis of human disease, from the discovery of genes involved in human disorders to the development of preventive and therapeutic strategies. The Programme combines large-scale experimental approaches with advanced genetic strategies to elucidate biological determinants of common and rare human diseases.

Efforts of the Genes and Disease Programme researchers are focused on analysing sequence, structural and epigenetic variants of the human genome that could participate in the predisposition and evolution of disease. Specific collective work within the Programme is focused on understanding the function of genes with potential implications in mental retardation, psychiatric disorders and neurodegeneration, by using bioinformatics, cellular and animal model approaches. Programme researchers also work in the development of therapeutic strategies that could correct mental retardation and anxiety disorders.

Translational research is a primary concern of the Genes and Disease Programme members. Several group leaders are part of the Rare Disorders and the Epidemiology and Public Health Biomedical Research Networks, of the Spanish Ministry of Health, and other biomedical research networks at the regional, national or international levels. The CeGen-ISCIII node, associated to the programme, provided state-of-the-art genotyping for common and rare disorders, and was supported by the Instituto de Salud Carlos III between 2003 and 2011.