The Human Genome Project

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Molecules and a microscope

1. History of the Human Genome Project

The origins of the Human Genome Project as the entity it is today can be traced back to the early 1985s, where a discussion concerning the sequencing and eventual mapping of the human genome took place at the University of California in Santa Cruz. A year later another forum was held, the entity responsible for the organization of the discussion was the U.S. Department of Energy. This meeting was destined to assess the benefits and costs of a full-scale project that would sequence, map and label the human genome—sponsored, of course, by the D.O.E. The internationally unanimous investigation did not take off and in the year 1987 the U.S. Department of Energy funded its own research into a Human Genome Project in tandem with the National Institutes of Health. (NIH), the project was launched officially in 1988, supervised by the Office of Human Genome Research. An Office that would later become an independent agent unit called The National Center For Human Genome Research.

In the early stages of the project’s proposal, the European Community expressed certain amount of concern with respect to the ethical and practical part of the research, which in Europe received the name of “Predictive Medicine Programme”. Many countries felt that the first proposition for the Human Genome Project was not properly equipped with directives that would research and seek to answer the ethical issues that would arise with the new level of information. Thus, the European Community introduced a proposal under the name of “Human Genome Analysis Programme” in 1990. The Human Genome Organization, or HUGO, comprised of a council of scientists from seventeen different countries to act as a mediator, coordinated all these programs in order to encourage international collaboration through open-end research and data exchange.

This project has lasted 13 years so far and it is expected that it will be finished between 2003 and 2004.

2. Goals of the Human Genome Project

A.- The HGP has as a goal the identification of the (app) 30,000 genes found in human DNA. A genome is all the DNA that can be found in an organism, including its genes- a gene carries intrinsic information on the elaboration of proteins required by organisms. Proteins have a vital part in the functioning of organisms and can determine key procedures, metabolization, behavior and physical characteristics of the organism.
Proteins are large and complex units composed by smaller units called amino acids.. The agglomeration of all proteins in a cell is called a proteome, and unlike a genome it is a construct that changes constantly in response to signals received intracellularly .

B.- To determine the sequences of the chemical base pairs that human DNA is constructed of. Human DNA is made out of four similar chemicals (A, T, C and G) that are repeated all throughout the genome’s structure. A human genome has three billion pairs of bases. It is therefore understood that what creates genetic diversity is the particular order of A, T, C and G. The combination of these elements can determine the nature of the organism produced- all organisms are related through similarities in the sequences of DNA. This information is stored in databases and subsequently transferred to the private sector, which in turn gradually makes it available to the general public through such sites as GenBank and the Genone News Network.

2.1 Process: The process of decoding the information found throughout research consists of many complicated phases. First, the researchers must break down the chromosomes into smaller components. The size of a chromosome can vary between 40 million and 250 million chemical bases. This is known as the sub-cloning step. Afterwards a template has to be prepared using smaller units in order to generate fragments, which will be separated in a set by the use of Gel Electrophoresis (the use of fluorescent dyes inserted into substances in order to differentiate them). This allows the separation of all four fragments. The last phase consists in the identification of each fragment, recreating the original sequence of A, T, C, S and G from each short piece generated by the first step. Once the bases have been read the computers are used to assemble the short sequences into long continuous stretches that are analyzed for errors and other characteristics.

3 .Benefits

Some observers believe that due to the rapid progress in this field, that biology will be the most important science of the 21st century, due to the sheer amount of information we will have on living organisms. Among the fields that would benefit from this newfound knowledge we have molecular medicine, bioarchaeology, anthropology, evolution, DNA forensics and agriculture. In Medicine we would be able to improve the diagnosis of a disease and genetic predispositions to ailments, gene therapy and inmunotherapy techniques. Microbial Genomics would open the door to an entirely new kind of energy source- biofuels, as well as improvements in the monitoring of pollutants in the environment.
Among the recent discoveries in mapping the human genome, scientists have come across a region of chromosome 14 that may contain a gene linked to a common anxiety disorder called “Simple Phobia”, so we also are entering a whole new branch of human behavior. In his article “Mapping Primal Fears”, Adam Marcus has this to say about Simple Phobia:

“People with simple phobia avoid things like heights or animals or having their blood drawn because they provoke an unusually high amount of anxiety, fear or distress.
Phobias are complex behaviors that probably involve many genes acting in concert, as well as environmental stimuli to trigger a response. The region of chromosome 14 contains several genes implicated in full-blown panic attacks that will now be tested for their roles in simple phobia.“

Other discoveries have also allowed us to learn about our own nature by studying other creatures. For example, the first head-to-head comparison of draft human and mouse genome sequences produced astonishing results: Fourteen genes on mouse chromosome 16 are not found in humans but all the rest (700 mouse genes) were found to have counterparts inside our own genome- grouped together and in the same arrangement as in the mouse genome. We have a remarkable similarity in the structure of our chromosomes and as far as DNA sequences go. Because of our seeming relation, many scientists believe that the mouse is a useful model for understanding human health.

4. Ethics

The Human Genome Project has aroused many heated discussions concerning the legality and the general ethics of the handling of new information. The aim for the construction of a patient’s genetic database generated widespread interest and a large spectrum of questions regarding the ethical, legal, and social implications of the existence and use of human genetic sequences. The key factor lies within the ways of handling information while keeping it confidential. How should information be protected? Who should have access to this information and under what circumstances? Do employers have any right to access their employee’s genetic information, basing their career decisions on the sudden knowledge that x employee is more cancer-prone than the average? Diagnosis of many genetic disorders will be possible before treatment becomes available, which is found to cause many grounds for segregation and no end of trouble should the information leak out due to ineffective privacy protocols or just an ineffectively-conceived system- one must also consider that, as we uncover more about ourselves and our basic genetic nature, we will confront questions concerning ourselves, our species and our own natures that may challenge the bases of many beliefs in our society that we may take for granted, such as the perception of nature vs. nurture, genetic conditioning versus environment, the blurring of the line as far as the term “normalcy” is applied, etc.

It is important to recognize the existence of these issues and these questions, as well as the need for an increased dialogue with hopes to address them—the project unveiled , for example, that cloned mice displayed damaged genomes and often died from liver failure and the collapsing of other organs, this itself takes the issue of cloning to a different level where caution is imperative before any bolder steps are taken. Many nations and organizations participating in the Human Genome Project have created committees to address such interrogatives and it is very likely that these will increase as more and more discoveries shed new light- and doubt- over all we thought we knew about ourselves and other living creatures.


  1. Human Genome Project:
  2. The Genome Database
  3. DOE Genome
  4. NCBI Human Genome Resources
  5. Genome Network News
  6. The HUGO nomenclature Committee

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