Xavier Estivill

Acting Chief of Translational Medicine

Sidra Medical and Research Center, Qatar

My group is interested in evaluation of the genetics component of phenotypes that have clinical consequences for children and women. During the last years my group has examined the contribution of different types of genetic variation to human disease. These include non-coding RNAs, structural variants and epigenetic changes. We are using the knowledge of the Qatar Genome Program and the Qatar Biobank to dissect the genetic variability of the population and the phenotypic traits evaluated in this scientific endeavor. We are interested in cardio-vascular disorders, women infertility processes and psychiatric traits. We will develop translational genomics for woman and child’s health. This will be achieved by developing studies in functional genomics that integrate large cohorts of patients with genome-centric evaluation of phenotypes. The group will help to make possible the concept of precision medicine in Qatar at prevention, diagnosis and treatment. Genomics translational activities will include the development of diagnostic approaches to prevent genetic disorders throughout carrier, neonatal and premarital screening. We will use model systems that include drosophila, zebrafish and induced pluripotent cells to model phenotypes affecting the population of Qatar. We will use high-throughput approaches to identify pharmaceutical compounds that will target every phenotype and patient under investigation.