Eventos | 17 February 2023 | Friday talks

Elucidating the relationships between genomes and phenomes: the importance of biodiversity

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Summary

One of the great challenges of biomedical research in the 21st century is to understand the genetic architecture of all kinds of phenotypes, mainly complex diseases. The relevance of this challenge is such that it was one of the main arguments, more than 20 years ago, for sequencing the human genome and investing in many of the advances that followed. For almost two decades, the main methods of ascertaining the relationship between genomes and phenomes have focused on comparing large numbers of humans who present subtle differences in phenotypes of interest (an example are Genome-Wide Association Studies, or GWAS). In the talk we will review the main results of that research program, and argue the importance of an integrative view of biodiversity: extending the comparative method to other species, beyond humans, is a very promising complementary strategy that may allow overcoming the limitations of current methods.

 

Brief biography

Arcadi Navarro is Professor of Genetics and ICREA research Professor at Universitat Pompeu Fabra (UPF, in Barcelona, see http://www.upf.edu). Also, he is the Director of the Pasqual Maragall Foundation (FPM, https://fpmaragall.org/) and its research centre, the Barcelonabeta Brain Research Centre (BBRC, https://www.barcelonabeta.org/), devoted to the fight against Alzheimer’s Disease and other age-associated dementias. Finally, he co-directs the European Genome-phenome Archive (EGA, https://ega-archive.org/) in a collaboration between the Centre for Genomic Regulation (CRG) and the European Bioinformatics Institute (EMBL-EBI). Nowadays, the EGA is the largest world-wide steward and distributor of Medical Genomics data. He has served science in different positions. Of late, he was Secretary for Universities and Research in the Catalonian Government between 2016 and 2018. Also, he was Vice-director of the Institute of Evolutionary Biology (IBE, https://www.ibe.upf-csic.es/) from its foundation in 2008 and until 2013. Between 2013 and 2016 he was director of the Department of Experimental and Health Sciences of the UPF. In addition, he was director of the Population Genomics Node of the Spanish National Institute of Bioinformatics (INB) between 2008 and 2020. His research focuses on genomics and evolutionary medicine, areas in which he has more than 200 publications, mostly using computational approaches and covering issues that range from chromosomal speciation or biodiversity to the biological roots of senescence or how to better predict phenotypes from genomic data.