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The Human Genome Project, or HGP, was the first large-scale international scientific research program. The goal of the project was to determine and fully complete the nucleotide sequence that makes up the human genome and be able to map out these genes. “In addition to sequencing DNA, the Human Genome Project sought to develop new tools to obtain and analyze data and to make this information widely available”. The goals of the HGP were articulated in 1988 and the program was then adopted by the Department of Energy and the National Institutes of Health. By 1990, the initial stages began and were published with a projected date of fifteen years. “The full sequence was completed and published in April 2003”. “The human genome consists of only about 20,000 protein-coding genes, with protein-coding sequences corresponding to only about 1% of human DNA”.
“Tremendous advances in the technology of DNA sequencing have been made, and new sequencing methodologies allow rapid and economical sequencing of individual genomes or transcribed RNAs”. The Human Genome Project was able to identify the locations, structure, and organization of many human genes. The project also compared and studied the sequence of genomes in many other organisms. “By studying the similarities and differences between human genes and those of other organisms, researchers can discover the functions of particular genes and identify which genes are critical for life”. Due to similarities in homologous genes, the identification of sequences or functions can be used as a model for other organisms. “Over 40% of the predicted human proteins are related to proteins in simpler sequenced eukaryotes, including yeasts, Drosophila, and C. elegans”. “Every part of the genome sequenced by the Human Genome Project was made public immediately, and new information about the genome is posted almost every day in freely accessible databases or published in scientific journals”. In 2013, the Supreme Court ruled that human genes naturally occur and therefore are not invented and cannot be patented. The discovery of the human genome sequence gave light to the fact that the number of protein-coding genes within an organism does not correlate with the complexity of that organism.
Genomics is the branch of molecular biology that studies not only the entire gene, but their interrelationships with each other, and their relationship with an environment. The goal is to find ways to improve health and combat diseases. “Genomics includes the scientific study of complex diseases such as heart disease, asthma, diabetes, and cancer because these diseases are typically caused more by a combination of genetic and environmental factors than by individual genes”. One method to improve the health of a person is to create a person’s activity and diet plan. By simply changing the way they eat and increasing their physical activity, they may be able to offset or delay a disease that the person may be predisposed to. “Genomics is offering new possibilities for therapies and treatments for some complex diseases, as well as new diagnostic methods”. Genomics is helping to discover why one person may get sick and another person does not when exposed to the same environment and risks. The discoveries that are being made by genomics could aid in earlier diagnoses, treatment, and even possibly prevention.
Genomics is trying to determine how genes function and the elements that regulated them. Variations in DNA sequences may help to assess a person’s predisposition to a disease and the response they would have to medication. Genomics may be able to “develop and apply genome-based strategies for the early detection, diagnosis, and treatment of disease”. The advancements of technology allow for “accurate diagnosis of existing disease and development of effective and targeted treatment strategies”.
Genomic information can possibly change how pharmaceutical drugs are tested. “New research into molecular pathways underlying health and disease will continue to inform rational drug development and design”. Genomic data could provide enough information to create new applications for therapeutic medications and select individuals that are better suited for clinical trials. “Genomic medicine has the potential to make genetic diagnosis of disease a more efficient and cost-effective process, by reducing genetic testing to a single analysis, which then informs individuals throughout life”.
To understand what proteins can be encoded by a cell’s genome, it is important to understand what proteins are expressed and how they function within a cell. The “large-scale analysis of cell proteins, or proteomics, has the goal of identifying and quantifying all of the proteins expressed in a given cell, the proteome, as well as establishing the localization of these proteins to different subcellular organelles and elucidating the networks of interactions between proteins that govern cell activities”.
By characterizing proteins that are expressed in the cell, it can provide insight on the function and organization. When different cells are exposed to different stimuli, we can attempt to understand their cellular adaptation to environmental signals and the difference between individuals in a species. “The aim of proteomics is not only to identify all the proteins in a cell but also to create a complete three-dimensional (3-D) map of the cell indicating where proteins are located”. Proteins are responsible for the phenotypes and therefore genes cannot provide all the information about cells. “It is impossible to elucidate mechanisms of disease, aging, and effects of the environment solely by studying the genome. Only through the study of proteins can protein modifications be characterized and the targets of drugs identified”.
Integration of data sets that are also used in genomics, such as microarray-based expression, “will yield a comprehensive database of gene functions that will serve as a powerful reference of protein properties and functions”. These databases will also provide researchers with tools to build and test their hypotheses. New drugs for the treatment of diseases is one possibility to come from studying human genes and proteins. To identify proteins that are associated with a certain disease, information from the genome and proteomes are required. Computer software is able to provide a three-dimensional structure that provides information on how to design drugs to interfere with protein. Inactivating enzymes within the proteins inactivates the proteins involved in the disease because when mutations occur in the DNA it is the proteins that are affected. This can lead to the development of drugs that are specific for a certain person and their specific disease. Proteomics on a large scale is used “to obtain a global, integrated view of disease processes, cellular processes, and networks at the protein level”.
Systems biology`s focus is on the molecular and cellular level trying to quantify processes. “Traditional biological experiments study individual molecules and pathways. Systems biology uses global experimental data for quantitative modeling of integrated systems and processes”. Saidel states in his article that computational models are developed to analyze systems based on underlying physical and chemical processes and with them, they can emphasize biological phenomena at a cellular level.“When applied to human health, systems biology models are intended to predict physiological behavior in response to natural and artificial perturbations”. The quantification of normal or abnormal functions can lead to diagnostic and therapeutic methods being developed.
Systems biology focuses on the study of complex interactions in biological systems. Systems biology is said to have come from two different roots in science. “The first and the most frequently mentioned root, relates to the discovery of the structure and function of the genetic material, as well as on the methods of gene manipulation. The second root is related to the thermodynamic aspects of living organisms introduced in biology during the 40s of the 20th century”. The Institute for Systems Biology states that systems biology is a holistic approach that integrates biology, engineering, computer science, physics, and bioinformatics to predict how systems may change over time under specific conditions to develop solutions to these issues. “This ability to design predictive, multiscale models enable our scientists to discover new biomarkers for disease, stratify patients based on unique genetic profiles, and target drugs and other treatments”.
In conclusion, there are more advantages of the Human Genome Project and scientific processes within it, rather than disadvantages. Genomics helps to understand better how organisms work and what can go wrong; how prevent different genetic diseases by developing new treatment within gene mofidications. Anyone who agrue against such advantages just doesn’t know the whole list of practical benefits of such projects as the Human Genome Project.
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