Tuesday, 15 May 2012

Disease and the Human Genome

One of the newest medical breakthroughs lies in the development of the field of genomics, that is, a science that aims to analyse genetic material to gain an increased understanding of diseases. Utilising this knowledge has yielded the new field of genomic medicine: using genes to enable researchers to “treat, cure or even prevent the thousands of diseases that afflict mankind” (US Department of Energy: Genome Programs, 2011, para. 3). Spearheading this goal is the US-run Human Genome Project, which has made significant contributions to their field in terms of information, resources and technology1 .  
Every disease has its own genetic material, which is hereditary or adaptive to their environment2. This information can then be mapped and analysed to gain an increased understanding of the disease. Using this knowledge, any defects within a human gene can then be compared to the disease, and subsequent links will enable researchers to evaluate the defect’s contribution to the disease. The project has mapped out the entirety of the human genome, as well as sequencing the base pairs of human DNA. Using this ‘database’ of information, they have applied this to several major diseases, including cancer. Of late, there are several cases of genome sequencing being able to provide significant aid to cancer patients, an example being Kristal James. Genome mapping has also led to numerous other significant discoveries, including the development of a new variety of therapeutics based on genes and gene therapy, which is the usage of genes to treat diseases3.
The sequencing was completed through the use of a shortcut. The Human Research Project researchers only focused on the human genomes that have variant DNA. These variant DNA only occur through a kind of adaptation, caused by an exposure to a specific disease or harmful environment. The genome is first separated into smaller pieces, which are analysed and mapped to human chromosomes. Then, these pieces are placed into bacteria to replicate the DNA. The resulting pieces are reassembled and sequenced into parts, and those parts are again reassembled to create a chromosome. Using this shortcut, the Human Genome Project was able to complete its human genome sequencing in 2003, and has now moved on to using this data to aid the prevention of disease.  
In conclusion, the analysis of the human genome has led to a medical breakthrough, namely, the role of defective or variant genes in disease. Using this information, they are able to isolate the factors that cause disease, and thus are able to minimise or prevent it. The ramification of this research has affected the future of the medical industry in the possibility of prevention of several significant diseases, such as cancer.

Reference List
1: US Department of Energy: Genome Programs, 2011, Medicine and the New Genetics, paragraph 1, viewed 14/3/12. http://www.ornl.gov/sci/techresources/Human_Genome/medicine/medicine.shtml
2: : US Department of Energy: Genome Programs, 2011, Medicine and the New Genetics, paragraph 2, viewed 14/3/12. http://www.ornl.gov/sci/techresources/Human_Genome/medicine/medicine.shtml
3: : US Department of Energy: Genome Programs, 2011, Medicine and the New Genetics, paragraph 6, viewed 14/3/12. http://www.ornl.gov/sci/techresources/Human_Genome/medicine/medicine.shtml

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