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Summery article of three recently published research studies that highlight the importance of linking genetic and protein expression data in the context of disease phenotypes in order to identify new, robust drug targets. While many drugs are developed based on genomic findings, it’s common for these drugs to fail in the clinical phase due to their inability to provide the expected results for successful treatment. This is because most drugs target proteins, not genes. Although gene transcripts encode the information to make specific proteins, the amount of gene transcript does not always correlate with the amount of protein. On the other hand, focusing on protein levels alone can’t indicate whether any biological changes are a cause or consequence of the disease being studied. Researchers are finding that a combined approach that integrates genomics with proteomics can overcome these challenges.

The three studies this article summerizes:

  • Folkersen L, Gustafsson S, Wang Q, et al. Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals. (2020) Nature Metabolism, DOI: 10.1038/s42255-020-00287-2
  • Hillary R, Trejo-Banos D, Kousathanas A, et. al. Multi-method genome- and epigenome-wide studies of inflammatory protein levels in healthy older adults. (2020) Genome Medicine, DOI: 10.1186/s13073-020-00754-1
  • Bretherick A, Canela-Xandri O, Joshi P, Clark D, Rawlik K, Boutin T, Zeng Y, Amador C, Navarro P, Rudan I, Wright A, Campbell H, Vitart V, Hayward C, Wilson J, Tenesa A, Ponting C, Baillie K, Haley C. Linking protein to phenotype with Mendelian Randomization detects 38 proteins with causal roles in human diseases and traits. PLOS Genetics. (2020) 16(7), e1008785



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