Speaker: Josep Maria Mercader, BSC
Venue: Sala d'Actes FIB, B6
Abstract:Type 2 diabetes (T2D) affects 347 million people worldwide and is predicted to be the 7th leading cause of death in 2030. This disease is caused by a combination of genetic and environmental factors. Genome wide association studies (GWAS) have represented a promising tool to identify new genes involved in complex diseases, such as type 2 diabetes (T2D). However, despite large GWA meta-analyses involving hundreds of thousands of individuals, less than 10% of the existing genetic factors can be explained by the to-date identified loci. A possible explanation for this limited success may be that some genetic variants have very little frequency in the most studied populations, which results in a limited statistical power to detect association. As most of the studies have been performed in European populations, studying other populations may provide additional information and add biological knowledge, especially in these variants that are very rare or absent in European populations, but common in other populations.
In this talk, I will summarize the recent findings from several genetic studies performed in around 4,210 T2D cases and 4,786 controls that have been analysed by high-density genotyping arrays and whole exome-sequencing. These studies, which represent the largest genetic studies performed in a non-European population, lead to the discovery of novel genes associated to type 2 diabetes, substantially improving the knowledge of the pathophysiology of T2D.
Bio: Josep M Mercader received his PhD in human genetics at the Center for Genomic Regulation, under the supervision of Prof. Xavier Estivill and Dr. Mònica Gratacòs. His research focused on the characterization of the genetic basis of psychiatric diseases.
In 2009, his career shifted to computational biology, at the Barcelona Supercomputing Center (BSC), where he gained experience in Systems Biology, bioinformatics, high performance computing, and biostatistics.
During the last 5 years as a post-doc at the BSC, he performed three postdoctoral stays at the Center for Systems Biology (2010, University of Iceland), Intelligent Systems and Bioinformatics Laboratory, at the (2011, Wayne State University, Michigan, USA), and at the Broad Institute of MIT and Harvard (2013-2014, Cambridge MA, USA), under David Altshuler and Jose Florez supervision.
His main research lines focus on the development of new methods for the analysis of large-scale genetic data using systems biology and supercomputing resources.