The human genome project

Introduction

The Institute for Genomic Research (TIGR) sequenced the first genome of a free-living organism, the bacterium Haemophilus influenzae, in 1995. This landmark project, led by TIGR scientist Robert Fleischmann, led to a series of genome sequencing projects.   The human genome project and  ENCODE were the pioneering projects.  The latest is the Genographic Project

  1. The Human Genome Project is a worldwide research effort initiated by the Department of Energy and the National Institutes of Health in 1987 as a multi-disciplinary effort to understand the basis of human heredity. This international collaboration is being carried out at several genome centers located in the United States, England, France and Japan. The focus of the Human Genome Project is the characterization of the human genome by determining the complete nucleotide sequence of our 24 different chromosomes, including the estimated 50,000 to 100,000 genes contained in human DNA.

Rapid technological advances accelerated the completion date to 2003.  Project goals were to identify all the approximately 20,000-25,000 genes in human DNA, determine the sequences of the 3 billion chemical base pairs that make up human DNA, store this information in databases, improve tools for data analysis, transfer related technologies to the private sector, and address the ethical, legal, and social issues (ELSI) that may arise from the project.

To help achieve these goals, researchers also studied the genetic makeup of several nonhuman organisms. These include the common human gut bacterium Escherichia coli, the fruit fly, and the laboratory mouse.  Sequence and analysis of the human genome working draft was published in February 2001 and April 2003 issues of Nature and Science.

A unique aspect of the U.S. Human Genome Project is that it was the first large scientific undertaking to address potential ELSI implications arising from project data.  The National Human Genome Research Institute’s (NHGRI) Ethical, Legal and Social Implications (ELSI) Research Program was established in 1990 as an integral part of the Human Genome Project (HGP).

2. ENCODE

The National Human Genome Research Institute (NHGRI) launched a public research consortium named ENCODE, the Encyclopedia Of DNA Elements, in September 2003. The project is being conducted in three phases: A pilot project phase, a technology development phase and a planned production phase. The goal of the first two phases of the ENCODE project is to identify a suite of approaches that will allow the comprehensive identification of all the functional elements in the human genome. A set of regions representing approximately 1 percent (30 Mb) of the human genome has been selected as the target for this pilot project and is currently being analyzed by all ENCODE Consortium investigators.

 

The Human Genome Project  and it’s Medical applications

  1. Diagnosing and Predicting Disease and Disease Susceptibility
    All diseases have a genetic component, whether inherited or resulting from the body’s response to environmental stresses like viruses or toxins. The successes of the HGP have even enabled researchers to pinpoint errors in genes that cause or contribute to disease.

The ultimate goal is to use this information to develop new ways to treat, cure, or even prevent diseases.  Biotechnology companies are racing ahead with commercialization by designing diagnostic tests to detect errant genes in people suspected of having particular diseases or of being at risk for developing them.

  1. Disease Intervention
    Drug design is being revolutionized as researchers create new classes of medicines. Drugs targeted to specific sites in the body promise to have fewer side effects than many of today’s medicines.  The potential for using genes themselves to treat disease, gene therapy, is the most exciting application of DNA science. This rapidly developing field holds great potential for treating or even curing genetic and acquired diseases, using normal genes to replace or supplement a defective gene or to bolster immunity to disease (e.g., by adding a gene that suppresses tumor growth).

3. The Genographic Project

A new project launched by the National Geographic Society and computer firm IBM aims to trace the migratory history of human populations.  The five-year project, entitled ‘The Genographic Project’, will establish ten research groups to look at 100,000 DNA samples from people around the world.  The privately-funded study will look for genetic differences between human populations, data which will provide clues about ancient migratory patterns. This ambitious new project seeks to avoid controversy by only taking DNA samples from participants, and not establishing cell-lines. In addition, the samples will be anonymised, and the organizers have said they will use them solely for anthropological studies.

Conclusion:

Over the years, scientists have made significant strides in analyzing the human genome.  The next decade or so will see even more significant breakthroughs.  More private funding and international collaboration is the need of the hour.

REFERENCES

The Human Genome Project.  http://hshgp.genome.washington.edu/prog_description/prog_description.htm

http://www.ornl.gov/sci/techresources/Human_Genome/project/about.shtml

The Genographic Project. The National Geographic Society, 13 April 2005
http://www5.nationalgeographic.com/genographic/

ENCODE.  http://www.genome.gov/10005107

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