Chair Genetis Program
Sidra Medical and Research Center
Total years of experience :22 years, 5 Months
Since October 2015 I am the Chair of the Genetics Program in the Research Department of Sidra Medical and Research Centre in Doha, Qatar. At Sidra I contribute to the analysis of the data of the Qatar Genome Program (QGP), which aims to provide the genomics characterization of the population of Qatar to translate the genomics knowledge into clinical applications.
Director of the Genes and Disease Program at the Centre Genomic Regulation (CRG), Associate Professor of Pompeu Fabra University, and Director of Genomics and Personalized Medicine Unit at Dexeus Woman’s Health in Barcelona. Previously, I 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. CRG was created about 15 years ago and now is amongst the world top 10 research centers in biomedicine.
My research has provided molecular understanding to many human genetic disorders, including cystic fibrosis, neurofibromatosis, hereditary deafness, and Down syndrome. Recent achievements of my group have been the identification of genetic variants associated with complex diseases, the description of toxicity of small RNAs in Huntington’s disease, and the identification of novel small RNA molecules in the human genome. I coordinate the germline mutations group of the Pancancer International Cancer Genomics Consortium study, evaluating whole genome sequence data of thousands of patients with cancer.
I have published over 600 research papers (h-index 101 with over 45, 000 citations), and have received numerous awards, and I sit on the board of several human genetics journals and scientific advisory boards, including the World Anti-Doping Ethics Panel, the International Rare Disorders Research Consortium and the International Cancer Genomics Consortium.
courses: He was Senior Group Leader at the Centre Genomic Regulation (CRG), Associate Professor