The Human Genome Project

In 1988, a group of visionary scientists in the United States persuaded Congress to fund an international scientific research project with the goal of determining the base pairs that make up human DNA and of identifying, mapping and sequencing all of the genes of the human genome from both a physical and a functional standpoint. The program, which began in 1990 and was completed in 2003, was a massive effort that required billions of dollars to complete.

Until the advent of biotechnology, figuring out a single gene's sequence was a laborious and expensive process that took months to accomplish. The advent of the Human Genome Project (HGP), which involved a large number of scientists from international laboratories, enabled rapid progress in this area.

The HGP has also led to important advances in the study of transcription and gene regulation as well as genomics, a field involving DNA analysis and genetic manipulation. As such, it has been seen as an important milestone in the development of modern biology.

It has also paved the way for many other major developments in genetics.

A first type of map, called a genetic map, consists of sets of contiguous DNA fragments arranged in a precise order and tagged with markers (see Appendix). The distance between the markers on a genetic map is defined as a centimorgan (cM), which is equal to 1 x 106 bases.

This map allows investigators to isolate specific genes that they have already identified, as well as to identify segments of DNA for further study. These maps are time-consuming to construct and require the use of special tools to correct the ordering of the cloned DNA fragments and determine their nucleotide sequence.

The second type of map, called a physical map, provides cloned and ordered sets of contiguous DNA that represent regions of a chromosome or even a whole chromosome. These pieces are properly aligned and stored, which makes them useful for further studies.

In addition, a physical map helps investigators identify and study common mutations, such as insertions or deletions of nucleotides, that occur in the human population. These mutations can result in health problems.

These studies are essential to understanding the nature of genetic variation in the human population, and to developing diagnostic and therapeutic tests for disease. They will also help scientists understand the aetiology of some diseases, including cancer and genetic disorders such as hereditary haemochromatosis.

The Human Genome Project has also produced the initial working draft of the human DNA sequence, which will remain a very valuable research tool for the next decade or so. However, as the public data bases become increasingly complex and more sophisticated, researchers will need a new generation of computational tools to process these massive amounts of genetic information.