Xavier Estivill is Senior Investigator and Chair of the Genetics Program in the Experimental Genetics Division of Sidra Medical and Research Centre. He graduated in Medicine, specialised in Haematology, and doctorate in Medicine by the Autonomous University of Barcelona and in Philosophy by the University of London. Between 2002 and 2015 he was Senior Group Leader and Director of the Genes and Disease Program at the Centre Genomic Regulation, Associate Professor at Pompeu Fabra University, and Director of the Genomics Unit at Dexeus Woman’s Health in Barcelona. Previously, he was Visiting Scientist at the Hospital for Sick Children in Toronto, and directed the Genetics Service of the Clinic Hospital and the Genetics Centre of the Cancer Research Institute in Barcelona.
The research of his group has provided molecular understanding of many human genetic disorders, including cystic fibrosis, neurofibromatosis, hereditary deafness and Down syndrome. Recent achievements have been the identification of genetic variants associated with psoriasis and psychiatric diseases, the description of toxicity of CAG RNAs in Huntington’s disease, and the identification of novel small RNA molecules in the human genome. He has published over 600 research papers, has received numerous awards, and sits on the board of several human genetics journals and scientific advisory boards, including the World Anti-Doping Ethics Panel, International Rare Disorders Research Consortium and the International Cancer Genomics Consortium.
Xavier Estivill is interested in applying genomic-centric approaches to reveal the genetic basis of complex and rare diseases, and to promote translational genomic approaches based on the multilayer characterization of the individual’s genome and deep phenotypic characterization of disease. He co-coordinates the germline mutations group of the International Cancer Genomics Consortium on PanCancer analysis, involving the evaluation of sequence data of thousands of patients with cancer, and participates in projects to understand the genetic component of human diseases.
Areas of Research/Activities
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.
ORCID Number: http://orcid.org/0000-0002-0723-2256
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