Implications of mapping the human genome.
The human Genome Project began in 1990, following initial co-operation between the US Department of Energy and the Welcome Trust, a UK medical charity. China, Germany, France and Japan also became full partners in the project. The objective was to generate a high-quality reference DNA sequence for the human genome. The genome represents the complete set of DNA in each organism. In humans it is made up of 3.2 billion linked segments of DNA, known as base pairs. As the activity in every cell in every living organism is governed by the DNA in its nucleus, it is clear that this project aimed to provide knowledge about the most fundamental aspects of life. By ‘reading the book of life’ (Searls, 2001), the project was perhaps one the most ambitious in human history.
At that time, the project was also seen as extremely ambitious in technical terms. The laboratory techniques which were used to map the DNA were complex and time-consuming and depended on highly skilled laboratory staff. It was clear that without new technologies and techniques it would not be possible to achieve the stated objectives by 2005, so as a first step, major investments were made in computer technology for data processing. This marked the beginning of a new scientific discipline of bioinformatics, combining computing and biology by 1998, a total of 200 million base pairs had been sequenced by the project. With less than half of the planned project time remaining, just over 6% of the genome had been mapped.
Fortunately, computers were becoming cheaper and more powerful. Also by this time, significant investment had been made in developing specialized electronic components which could directly analyze the DNA without the need for human intervention. Consequently, there was an enormous increase in the speed with which the genome could be mapped.
In June, 2000, a rough data of the human genome sequence was produced. This covered 90% of the genome. Unlike the data produced by InterPro, a rival private-sector research project, the Human Genome Project data was freely available to the public and could be used without any restrictions.
While it was possible to assess the InterPro data without charge, its use for any purposes was subject to license agreements.
By April 2003, a finished version of the human genome sequence was available, along with much new knowledge. By coincidence or design, it was exactly 50 years since Watson and Crick published their paper on the structure of DNA, which identified the ‘letters’ of the genomic alphabet. The finished version identified all of the estimated 25,000 human genes within the genome, less than one-third fewer than expected. Around half of them were linked to a specific biological function. As a result of the project, we now know that there is only 0,1% of a difference in DNA between humans. Specific gene sequences have been associated with different diseases and disorders including breast cancer, muscle disease, deafness and blindness. DNA-based tests were among the first commercial applications of the research, and several hundred have been developed to date.
Many benefits have already emerged from this research and there will be more over the next decade. Researchers have already begun to correlate variations in DNA with differences in results from medical interventions. This should allow us to classify individuals into subgroups, based on their DNA profile, for whom drugs could be customized. A new discipline, pharmacogenomics, is developing around the study of these interactions. The knowledge should also help tackle future pandemics and produce new developments in stem cell technologies.
- For each paragraph:
- identify the topic sentence;
- think of a suitable title.
- Revise the words in ex.1 and 2. Match the terms to their definitions:
| a) Stigma b) Pandemic c) Pathogen d) Patent e) Genomics f) Variation g) gene h) Nanotechnology i) Pharmacogenomics j) Mutation k) Molecular l) Heredity m) Dysfunction n) Correlate o) Encode p) Sequencing q) Customize | 1. The study of genes 2. Disease-producing agent (especially a virus or bacterium or other microorganism) 3. An outbreak of disease which is geographically widespread and has a severe effect on the population 4. Legal document giving an inventor the sole rights to benefit from an invention 5. Deviation from a standard model 6. A feeling that something is wrong or embarrassing in some way, generally imposed by society or family 7. To convert information into a code 8. Make or change according to requirements 9. A process where genetic factors are transmitted from one generation to the next 10. Branch of engineering/ science that deals with things smaller than 100 nanometres (=.00000001mm) 11. A change or alteration in form or qualities – particularly used for genetic changes 12. Determining the order of constituents in something; used in reference to molecular genetics in particular 13. A molecular code passed to a living thing from its parent and located within every cell to control its behaviour 14. To be connected in a way that is not caused by chance 15. Branch of genetics that studies the genetically determined variations in response to drugs 16. Relating to molecules 17. Where an organ or body part does not function in a normal way |
- Match the combining elements to their meaning:
| Example | Combining element | meaning |
| Chromosome correlate dysfunctional genomics nanotechnology pandemic pathogen pharmacogenomics | Chrom- co- dys- gen- nano- pan- path- pharma | - Disease - Small - Bad - Colour - Born in/from - Including all people - Drug/medicine - With/together |
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