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Genomics in Medical Science: an Overview Article ID: WMC002580 2046-1690 Genomics in Medical Science: An Overview Corresponding Author: Mr. Robby Kumar, Lecturer, SSR Medical College, Mauritius - Mauritius Submitting Author: Mr. Robby Kumar, Lecturer, SSR Medical College, Mauritius - Mauritius Article ID: WMC002580 Article Type: Review articles Submitted on:04-Dec-2011, 08:33:21 PM GMT Published on: 05-Dec-2011, 08:44:24 AM GMT Article URL: http://www.webmedcentral.com/article_view/2580 Subject Categories:BIOTECHNOLOGY Keywords:Genomics, Epigenomics, Toxicogenomics, Proteomics, MicroRNomics, Pharmacogenomics How to cite the article:Kumar R . Genomics in Medical Science: An Overview . WebmedCentral BIOTECHNOLOGY 2011;2(12):WMC002580 Source(s) of Funding: None Competing Interests: None Webmedcentral > Review articles Page 1 of 12 WMC002580 Downloaded from http://www.webmedcentral.com on 16-Dec-2011, 12:22:28 PM Genomics in Medical Science: An Overview Author(s): Kumar R Abstract infectious diseases. This is clearly illustrated during the severe acute respiratory syndrome (SARS) outbreak in 2002–2003 and the emergence and worldwide spread of the pandemic H1N1 2009 Genomics is the study of an organism's genome and influenza virus this year. In both cases, genomics the use of the genes. It deals with the systematic use played a key role in the immediate response to the of genome information, associated with other data, to outbreak. Initially, very little was known about the virus provide answers in biology, medicine, and industry. responsible for the SARS outbreak. Pangenomic virus Genomics has the potential of offering new therapeutic microarrays identified it as a coronavirus (6); however, methods for the treatment of some diseases, as well it was only through detailed sequencing that the as new diagnostic methods. Other applications are in specific genotype of this virus could be determined (7). the food and agriculture sectors. The major tools and Comparative sequence analysis identified the SARS methods related to genomics are bioinformatics, virus as distinct from other coronaviruses in terms of genetic analysis, measurement of gene expression, its encoded proteins responsible for antigen and determination of gene function. presentation. This finding ultimately lead to Introduction development of diagnostics (8) and potential therapeutics (9). This example of a sequencing approach as a rapid response to a virus outbreak Human genomics, the study of structure, function, and demonstrates that genomics can be a useful and interactions of all genes in the human genome, important, if not essential, epidemiological tool. In the promises to improve the diagnosis, treatment, and ongoing H1N1 influenza outbreak, the National Center prevention of disease. This is due to the result of the for Biotechnology Information (NCBI) established the completion of the Human Genome Project. It is Influenza Virus Resource, containing 462 complete anticipated that genomics will bring to physicians a viral genome sequences from worldwide viral samples. powerful means to discover hereditary elements that Some of the genomic data was completed, compared, interact with environmental factors leading to disease and released to the public within two weeks of (1). The ‘‘Genomic Revolution’’ has transformed our isolation of the DNA. The rapid generation of genome vision and understanding of how living organisms and sequence data is providing a paradigm shift in the systems interact with each other and with the analysis of infectious disease outbreaks, from more environment (2). Increasingly, the science of genomics classical methods of isolation to the rapid molecular serves as the foundation for translational research for examination of the pathogen in question.(9) advancing the management of many important The fundamental idea that responses to environmental diseases (3). factors or treatments is to be found in our individual differences, the underlying concept of “genomic Genomics and Infectious medicine”, is rooted in antiquity and based on disease: Current status millennia of simple observation. The objective of genomic medicine is to determine the genetic bases of those differences in response to environmental agents, including medications, and differences that may Infectious disease management is also transforming predispose to the development of common and thanks to molecular technologies as seen in HIV (4,5), potentially personally devastating and societally tuberculosis, malaria , and other neglected tropical expensive disorders, and to use them in populations to diseases . Discovering novel pathogens and thwart adverse response, increase the frequency of elucidating the implications of genetic variation among beneficial response, and intervene to prevent or delay existing pathogens is critical for rapidly mitigating onset of disease.(10) Approximately 1100 different pandemic threats, as demonstrated recently with genes have been shown to have at least one mutation severe acute respiratory syndrome (SARS) and avian in them that causes a disease. Total number of (H5N1) and pandemic H1N1 2009 influenza(3). disease genes = approx. 1500 (11) H1N1 2009 Influenza: Genomics. Genomics can be readily applied to follow outbreaks of Webmedcentral > Review articles Page 2 of 12 WMC002580 Downloaded from http://www.webmedcentral.com on 16-Dec-2011, 12:22:28 PM Functional Genomics potential disease gene, and we end up with the new concept of 'reverse medicine', by which we will derive new morbid entities and pathogenic pathways from the knowledge of the structure and function of every Understanding the function of genes and other parts of gene.(16) Identifying all of the human genes is but one the genome is known as functional genomics. step in understandingdisease pathogenesis. These Functional genomics is a field of molecular biology that new proteinsfunction (and malfunction) in novel and is attempting to make use of the vast wealth of data complex metabolic pathways should be seen.While produced by genome sequencing projects to describe the human genome sequence gives us a road map, genome function. Functional genomics uses sensitive much workremains in understanding where the road techniques like DNA microarrays, proteomics, leads and what detoursmay exist. There is a metabolomics and mutation analysis to describe the complex,multigenic disorders that are responsible for function and interactions of genes.(12) some of the most commonmaladies in society such as The development and application of global (genome- atherosclerosis, hypertension, diabetes,psychiatric wide or system- wide) experimental approaches to disorders, and stroke. (17,18) assess gene function by making use of the information Toxicogenomics and reagents provided by structural genomics [in the Current goals of toxicogenomics, which would also be original more limited sense of construction of high- relevant to immunotoxicology, include hazard resolution genetic, physical and transcript maps of an identification by comparing microarray results with organism. It is characterized by high throughput or analyses of structure activity relationships or animal large- scale experimental methodologies combined bioassays, risk characterization by coupling genomic with statistical and computational analysis of the data with population exposure assessment or results. The fundamental strategy is to expand the cross-species comparisons provide a template that scope of biological investigation from studying single immunotoxicologists may apply to reach these same genes or proteins to studying all genes or proteins at goals.(21) One of the most likely immune mediated once in a systematic fashion.(13) adverse effects of chemical exposure is Human Genome Project hypersensitivity, researchers have shown the The Human Genome Project, which was led at the development of an in vitro approach to detect potential National Institutes of Health (NIH) by the National contact allergens by following gene expression in cells Human Genome Research Institute, produced a very exposed to a known strong sensitizer or irritant. high-quality version of the human genome sequence Changes in gene expression by that is freely available in public databases. That dinitrosulphobenzene-activated dendritic cells international project was successfully completed in generated from CD14+ adherent human mononuclear April 2003, under budget and more than two years cells identified 29 candidate target genes important in ahead of schedule. The sequence is not that of one the response to sensitizing agents (22) Genomics has person, but is a composite derived from several been used successfully to study mechanisms of action individuals. Therefore, it is a "representative" or (specific pathways associated with immunotoxicity of a generic sequence. To ensure anonymity of the DNA specific chemical).(21) donors, more blood samples (nearly 100) were MicroRNomics collected from volunteers than were used, and no RNomics is studysncRNAs on the genomic scale (23). names were attached to the samples that were The standard pathway of informationflow in a cell from analyzed. Thus, not even the donors knew whether DNA to message RNA (mRNA) to protein hasbeen the their samples were actually used. The Human dominant theme in molecular biology. However, Genome Project was designed to generate a resource recentanalyses of the human and animal genomes that could be used for a broad range of biomedical have demonstrated thatthe majority of RNA transcripts studies.(14,15) The major impact of the completion
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