The Map of the Human Genome
The Hard Work Now Begins
Dateline: June 26, 2000
Today, scientists and politicians announced to the world that they had completed a rough draft of the correct sequence and order for the human genome. “This pronouncement may prove to be one of science’s greatest achievements”, according to President Clinton.
Said United Kingdom’s Tony Blair, “this is a revolution in medical science whose implications far surpass even the discovery of antibiotics”. “Now the real work begins”, said Dr. Francis Collins, the head of the Human Genome Project of the National Institutes of Health. And they may all be correct.
The map of the human genome is the documentation that defines the 3.1 billion sub units of human DNA. The human genome is contained in 23 pairs of chromosomes which are located in every one of the 100 trillion cells in the body. Deciphering the genome may eventually revolutionize medicine, but, as Dr. Collins also said, “it will be decades before the full benefits are realized.
The human genome project has been a ten-year effort by a public consortium of international scientists, and a private biotech company. The consortium of scientists are located at 16 research centers in more than a dozen countries including France, China, Germany, the United Kingdom and Japan.
To date, about 50,000 genes have already been identified and there probably are many thousands more to locate. Flawed or missing genes can cause disease. Defects in genes can be responsible for an estimated 5000 hereditary potential diseases, such as Huntington’s disease, cystic fibrosis, and sickle cell anemia.
With the availability of a complete accurate genome map, linking a gene with a disease should no longer be the time consuming, imprecise process that it once was.
A decade ago, it had taken 9 years to identify the gene for cystic fibrosis. In 1997, largely because of the efforts of the human genome project, the gene for Parkinson’s disease was identified in only 9 days.
The near term challenge for the scientists will be to refine and complete the rough draft of the genome map. Then the real work will begin.
These raw DNA messages have yet to be thoroughly analyzed to find out what genes they contain, what proteins the cells make from the gene recipes, and how the proteins interact with each other to build the body, and regulate its function.
“Having the instruction book is an incredible moment – all of biology and medicine is going to be divided into what we did before that and what we did after that”, said Collins. “But it’s still just an instruction book. We don’t know how to read it. We don’t understand the language well.”
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- July/August 2000
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