Can we use biobanks to study infectious diseases?
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© 2023 Institute of Molecular Genetics and Genetic Engineering, University of Belgrade
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Understanding the molecular and environmental basis of diseases in order to improve
diagnosis and treatment represent a top priority for researchers. Much of the progress
occurred following the growth of various omics technologies and the IT progress
in developing large electronic databases capable of storing huge amounts of data.
Biobanks represents the most valuable resource for personalized medicine as these
are the large collection of various patient samples with well-annotated clinical data
which strive to identify possible links between genetic predisposition and disease. A
significant step forward are biobanks that are linked to the electronic health records of
each participant enabling up-to-date source of relevant medical information and those
“deeply phenotyped” for various other omics data, such as microbiome, epigenome,
transcriptome, metabolome and proteome.
Since infectious diseases still represent a huge threat to global human health, and host
genetic factors... have been implied as determining risk factors for observed variations in
disease susceptibility, severity, and outcome, during this lecture we will discuss challenges
and opportunities of using biobanks as a potential source to study infectious diseases
based on the case example of isolated population-based longitudinal biobank “10,001
Dalmatians”. Results of a genome-wide association meta-analyses of 14 different
infectious-related phenotypes identified 29 infection-related genetic associations, most
belonging to rare variants, all of which have a role in immune response. These findings
support the concept that host genetic susceptibility to bacterial and viral infections in
adults is polygenic, where common variations have very low explained variance and/or
“unfortunate” combinations of numerous rare variants. Expanding our understanding
of rare variants may help in the construction of genetic panels which might predict an
individual’s lifetime vulnerability to major infectious diseases. Furthermore, longitudinal
biobanks are a valuable source of data for discovering host genetic variations involved
in infectious disease susceptibility and severity. Because infectious diseases continue to
exert selective pressure on our genomes, a global network of biobanks with access to
genetic and environmental data is required to further explain complicated mechanisms
underlying host-pathogen interactions and infectious disease vulnerability.
Keywords:
biobanks / “10,001 Dalmatians” / genome-wide association studies / rare variants / infectious diseasesSource:
4th Belgrade Bioinformatics Conference, 2023, 4, 14, -14Publisher:
- Belgrade : Institute of molecular genetics and genetic engineering
Note:
- Book of abstract: 4th Belgrade Bioinformatics Conference, June 19-23, 2023
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Institut za molekularnu genetiku i genetičko inženjerstvoTY - CONF AU - Gelemanović, Andrea PY - 2023 UR - https://belbi.bg.ac.rs/ UR - https://imagine.imgge.bg.ac.rs/handle/123456789/1949 AB - Understanding the molecular and environmental basis of diseases in order to improve diagnosis and treatment represent a top priority for researchers. Much of the progress occurred following the growth of various omics technologies and the IT progress in developing large electronic databases capable of storing huge amounts of data. Biobanks represents the most valuable resource for personalized medicine as these are the large collection of various patient samples with well-annotated clinical data which strive to identify possible links between genetic predisposition and disease. A significant step forward are biobanks that are linked to the electronic health records of each participant enabling up-to-date source of relevant medical information and those “deeply phenotyped” for various other omics data, such as microbiome, epigenome, transcriptome, metabolome and proteome. Since infectious diseases still represent a huge threat to global human health, and host genetic factors have been implied as determining risk factors for observed variations in disease susceptibility, severity, and outcome, during this lecture we will discuss challenges and opportunities of using biobanks as a potential source to study infectious diseases based on the case example of isolated population-based longitudinal biobank “10,001 Dalmatians”. Results of a genome-wide association meta-analyses of 14 different infectious-related phenotypes identified 29 infection-related genetic associations, most belonging to rare variants, all of which have a role in immune response. These findings support the concept that host genetic susceptibility to bacterial and viral infections in adults is polygenic, where common variations have very low explained variance and/or “unfortunate” combinations of numerous rare variants. Expanding our understanding of rare variants may help in the construction of genetic panels which might predict an individual’s lifetime vulnerability to major infectious diseases. Furthermore, longitudinal biobanks are a valuable source of data for discovering host genetic variations involved in infectious disease susceptibility and severity. Because infectious diseases continue to exert selective pressure on our genomes, a global network of biobanks with access to genetic and environmental data is required to further explain complicated mechanisms underlying host-pathogen interactions and infectious disease vulnerability. PB - Belgrade : Institute of molecular genetics and genetic engineering C3 - 4th Belgrade Bioinformatics Conference T1 - Can we use biobanks to study infectious diseases? EP - 14 IS - 14 VL - 4 UR - https://hdl.handle.net/21.15107/rcub_imagine_1949 ER -
@conference{ author = "Gelemanović, Andrea", year = "2023", abstract = "Understanding the molecular and environmental basis of diseases in order to improve diagnosis and treatment represent a top priority for researchers. Much of the progress occurred following the growth of various omics technologies and the IT progress in developing large electronic databases capable of storing huge amounts of data. Biobanks represents the most valuable resource for personalized medicine as these are the large collection of various patient samples with well-annotated clinical data which strive to identify possible links between genetic predisposition and disease. A significant step forward are biobanks that are linked to the electronic health records of each participant enabling up-to-date source of relevant medical information and those “deeply phenotyped” for various other omics data, such as microbiome, epigenome, transcriptome, metabolome and proteome. Since infectious diseases still represent a huge threat to global human health, and host genetic factors have been implied as determining risk factors for observed variations in disease susceptibility, severity, and outcome, during this lecture we will discuss challenges and opportunities of using biobanks as a potential source to study infectious diseases based on the case example of isolated population-based longitudinal biobank “10,001 Dalmatians”. Results of a genome-wide association meta-analyses of 14 different infectious-related phenotypes identified 29 infection-related genetic associations, most belonging to rare variants, all of which have a role in immune response. These findings support the concept that host genetic susceptibility to bacterial and viral infections in adults is polygenic, where common variations have very low explained variance and/or “unfortunate” combinations of numerous rare variants. Expanding our understanding of rare variants may help in the construction of genetic panels which might predict an individual’s lifetime vulnerability to major infectious diseases. Furthermore, longitudinal biobanks are a valuable source of data for discovering host genetic variations involved in infectious disease susceptibility and severity. Because infectious diseases continue to exert selective pressure on our genomes, a global network of biobanks with access to genetic and environmental data is required to further explain complicated mechanisms underlying host-pathogen interactions and infectious disease vulnerability.", publisher = "Belgrade : Institute of molecular genetics and genetic engineering", journal = "4th Belgrade Bioinformatics Conference", title = "Can we use biobanks to study infectious diseases?", pages = "14", number = "14", volume = "4", url = "https://hdl.handle.net/21.15107/rcub_imagine_1949" }
Gelemanović, A.. (2023). Can we use biobanks to study infectious diseases?. in 4th Belgrade Bioinformatics Conference Belgrade : Institute of molecular genetics and genetic engineering., 4(14). https://hdl.handle.net/21.15107/rcub_imagine_1949
Gelemanović A. Can we use biobanks to study infectious diseases?. in 4th Belgrade Bioinformatics Conference. 2023;4(14):null-14. https://hdl.handle.net/21.15107/rcub_imagine_1949 .
Gelemanović, Andrea, "Can we use biobanks to study infectious diseases?" in 4th Belgrade Bioinformatics Conference, 4, no. 14 (2023), https://hdl.handle.net/21.15107/rcub_imagine_1949 .