RESEARCH LINES
We are a large group, or a gathering of smaller groups, all working in human genetic diseases at molecular and genomic levels. We share goals and challenges: we aim to uncover the genetic basis of such disorders, to aid in their improved molecular diagnosis, and to find new treatments. We do so by exploiting synergies in the molecular knowledge of monogenic and complex diseases and by sharing approaches and resources for the different pathologies studied. We apply state of the art techniques, including high-throughput sequencing and genome-wide association analyses, to the discovery of new genes and variants responsible for the genetic diseases we study. We also generate new cellular, organoid and animal models (through iPSCs and/or by CRISPR-Cas9 gene modification) of the disorders, in order to improve our understanding of their molecular pathology and test new therapeutic approaches. A large part of our research efforts are dedicated to unveil the genetic basis of rare diseases, and our groups belong to the Spanish network for biomedical research on rare diseases CIBER-ER. We participate in international research networks to attain adequately powered patient cohort sizes and to collaborate by exchanging specific technical expertise and contribute to high quality training for young researchers. We are also involved in dissemination of scientific activities to patient associations and the society in general. We are committed to excellence, both in research and in university teaching.
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