The Genetics of Human Trait Variation – From Atoms to Organism


Event details

Date 24.06.2024
Hour 15:3016:30
Speaker Prof. Pedro Beltrao, Department of Biology, ETH Zurich (CH)
Location Online
Category Conferences - Seminars
Event Language English
The number of genetic studies of human traits and diseases has grown over the past years with many thousands of traits analysed by genome-wide association studies or clinical studies. However, connecting trait associated genetic variation to mechanisms through individual proteins and cellular mechanisms remains a challenge. Our group is interested in building computational models that aim to address this challenge. As an example, we have been developing methods to facilitate the interpretation of protein missense variants. To illustrate this, I will present work on the application of AlphaFold2 in predicting the impact of mutations on protein stability, protein-protein and protein-ligand interactions. In parallel, we have been using interaction protein network-based methods to expand and prioritize trait associated genes for over 6000 traits influenced by common and rare mutations, showing how this recovers known disease genes and drug targets. However, the current human protein interaction networks don’t reflect tissue or cell type specificity. To study tissue specificity we are using datasets of protein abundance measurements to predict in which tissues protein interactions are more likely to occur. We can show that protein co-variation is a strong predictor of protein interactions and can be used to build tissue specific interaction networks. These tissue specific networks can be used to link trait/disease associated genes to specific tissues and can serve as a resource for studying tissue specific differences in cell biology and disease. Our goal is to work towards an integrative modelling of human genetic variation that can inform on the impact on protein function, cell biology and the physiology of the organism.

Prof. Pedro Beltrao has a Biochemistry degree from University of Coimbra (2002) and a PhD in Biology from the University of Aveiro for research conducted at EMBL-Heidelberg under the supervision of Luis Serrano (2007). He did his postdoctoral research at the University of California San Francisco under the supervision of Prof. Nevan Krogan (2008-2012). He was a group leader at EMBL-EBI from 2013 to 2021 and he is now an Associate Professor at the Department of Biology, ETH Zurich since Jan 2022. His research group aims to develop an integrated understanding of the mechanisms that underlie the relation between genotype and phenotype with a specific focus on human trait variation and disease.

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Practical information

  • Informed public
  • Free


  • Prof. Bruno Correia, Laboratory of Protein Design and Immunoengineering (LPDI), Institute of Bioengineering (IBI), École polytechnique fédérale de Lausanne (EPFL)


  • Ms. Suzanne Balharry, Laboratory of Protein Design and Immunoengineering (LPDI), Institute of Bioengineering (IBI), École polytechnique fédérale de Lausanne (EPFL)