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Integrative genomics - an essential tool for development of molecular medicine

Jerzy Ostrowski 

Centrum Medyczne Kształcenia Podyplomowego (CMKP), Marymoncka 99, Warszawa 01-813, Poland
Centrum Onkologii - Instytut im. M. Skłodowskiej-Curie, Klinika Gastroenterologii Onkologicznej, Roentgena 5, Warszawa 02-781, Poland

Abstract

Since understanding the molecular taxonomy of disease requires the introduction of molecular diagnostics into medical practice, molecular medicine would be a natural addition to the post-genomic era. However, current clinical practice employs only elements of molecular diagnostics, usually on the scale of single genes, while testing thousands of molecular markers for association to disease will need to employ quite new, high-throughput technologies used for sequencing, functional genomic and proteomic studies. While the sequence analysis of whole genomes is now possible, the techniques for the measurement of cellular metabolism on a genomic scale are at the early stages of development. Moreover, a vast amount of molecular information used for routine identification of molecular subclasses of disease will require new computational technologies. But even then, molecular medicine will still deal with methods for analyses of relationship between genetic background and environmental factors, underlying a disease development.

Collection, cataloging and comparison of biological data from genomes and drawing conclusions about their molecular basis are the fundamental roles of bioinformatics and systems biology. Both bioinformatics and systems biology represent the marriage of biology, mathematics, programming and data mining which offer the possibility of evolutionary analysis, description of the function and regulation of a given molecule, and also the in silico creation and simulation of molecular interactions within the genomic and proteomic networks. However, on account of the high complexity of the networks responsible for even the simplest phenotypic changes, such global analysis is still being developed. That is why real molecular medicine still needs to create new methodology for the use in medical practice which would allow to identify mechanisms governing the interdependence between genotype and phenotype.

Molecular medicine requires to expand the collection of large numbers of data sets from clinical-molecular, clinical-genetic and pharmacogenomic studies from representative populations of patients in the same stage of a disease. Like no other medical field, it will implement highly efficient methods of molecular imaging on a genomic scale and complex signaling pathway analysis by cooperation between representatives of physicians, experimental biologists and computational biologists. Such collaborative effort should create the fundaments of molecular medicine based on so-called integrative genomics.

Integrative genomics can integrate analytical data, including genetics, transcriptomics, proteomics and metabolomics in a more comprehensive manner by construction complex molecular networks to represent description of molecular phenotypes. In turn, molecular phenotypes may represent intermediate to clinically defined diseased phenotypes.

 

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Related papers

Presentation: Invited oral at VI Multidyscyplinarna Konferencja Nauki o Leku, by Jerzy Ostrowski
See On-line Journal of VI Multidyscyplinarna Konferencja Nauki o Leku

Submitted: 2008-02-11 10:14
Revised:   2009-06-07 00:44