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SUMMARY:The Genetics of Human Trait Variation – From Atoms to Organism
DTSTART:20240624T153000
DTEND:20240624T163000
DTSTAMP:20260507T040226Z
UID:556887ffae950a4bac7e7dabab98488b4ce95a82fa2e5513d6ff3365
CATEGORIES:Conferences - Seminars
DESCRIPTION:Prof. Pedro Beltrao\, Department of Biology\, ETH Zurich (CH)\
 nBIOENGINEERING SEMINAR\n \nAbstract:\nThe number of genetic studies of h
 uman 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 th
 rough 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 facilit
 ate the interpretation of protein missense variants. To illustrate this\, 
 I will present work on the application of AlphaFold2 in predicting the imp
 act of mutations on protein stability\, protein-protein and protein-ligand
  interactions. In parallel\, we have been using interaction protein networ
 k-based methods to expand and prioritize trait associated genes for over 6
 000 traits influenced by common and rare mutations\, showing how this reco
 vers known disease genes and drug targets. However\, the current human pro
 tein interaction networks don’t reflect tissue or cell type specificity.
  To study tissue specificity we are using datasets of protein abundance me
 asurements to predict in which tissues protein interactions are more likel
 y 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/diseas
 e associated genes to specific tissues and can serve as a resource for stu
 dying 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 physio
 logy of the organism.\n\n\nBio:\nProf. Pedro Beltrao has a Biochemistry de
 gree from University of Coimbra (2002) and a PhD in Biology from the Unive
 rsity of Aveiro for research conducted at EMBL-Heidelberg under the superv
 ision of Luis Serrano (2007). He did his postdoctoral research at the Univ
 ersity of California San Francisco under the supervision of Prof. Nevan Kr
 ogan (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 understa
 nding of the mechanisms that underlie the relation between genotype and ph
 enotype with a specific focus on human trait variation and disease.\n\nZoo
 m link for attending remotely: https://epfl.zoom.us/j/63856907146
LOCATION:SV 1717 https://plan.epfl.ch/?room==SV%201717 https://epfl.zoom.u
 s/s/63856907146
STATUS:CONFIRMED
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