Human Genome

Year of Discovery: 2003
What Is It? A detailed mapping of the entire human DNA genetic code.
Who Discovered It? James Watson and J. Craig Venter

Why Is This One of the 100 Greatest?
Deciphering the human genetic code, the human genome, has been called the first
great scientific discovery of the twenty-first century, the “Holy Grail” of biology. DNA is
the blueprint for constructing, operating, and maintaining a living organism. It directs the
transformation of a fertilized egg into a complete and complex human being. Deciphering
that code is the key to understanding how cells are instructed to develop and grow, the key
to understanding the development of life itself.
Because the human genome is unimaginably complex, it seemed impossible to decipher the three billion elements of this molecular code. Yet this Herculean effort has already
led to medical breakthroughs in genetic defects, disease cures, and inherited diseases. It is
the key to future discoveries about human anatomy and health. Understanding this genome
vastly increased our appreciation of what makes us unique and what connects us with other
living species.

How Was It Discovered?
Austrian monk Gregor Mendel discovered the concept of heredity in 1865, launching
the field of genetics. In 1953 Francis Crick and James Watson discovered the double helix
shape of the DNA molecule that carried all genetic instructions.
The problem was that there were billions of genetic instructions carried on the complete human genetic code, or genome. Understanding it all seemed a physically impossible
task. Sequencing the entire human genome was a project 20,000 times bigger and harder
than any biological project attempted to that time.
Charles De Lisi at the U.S. Department of Energy (DOE) was the first to gain government funds to begin this monumental process, in 1987. By 1990, the DOE had joined with
the National Institutes of Health (NIH) to create a new organization, the International Human Genome Sequencing Consortium (IHGSC). James Watson (of DNA discovery fame)
was asked to head the project and was given 15 years to accomplish this monumental task.


three years ahead of IHGSC’s timetable. Craig Venter (a gene sequencer at the Institutes of Health) believed that scientists would waste precious years focusing on Watson’s “big picture” and should instead sequence as many specific parts of the genome as they could and piece these individual sequences together later. By 1994 this first effort was complete. that genome would fill 150. interpret. it would take thousands of years for all existing labs to complete the identification and sequencing of three billion pairs.How Was It Discovered? 221 At that time. In early 2000 President Clinton stepped in to end the war and merged both sides into a unified genome effort. Venter quit his government position and formed his own company to develop as much of the genome sequence as he could ahead of IHGSC’s effort. scientists believed that human DNA contained about 100.000 printed pages (500 books. bread molds. Even though the information on this genetic sequence is only a few years old. In written form. Fun Facts: If the DNA sequence of the human genome were compiled in books. these scientists found that humans have only 25. J. e.000). Its full value will be seen in medical breakthroughs over the next 20 to 50 years. In 1998 Venter shocked the world by announcing that he would use linked supercomputers to complete his sequencing of the entire human genome by 2002. Surprisingly. In 2003 this merged team released their preliminary report. and simple nematodes (tiny oceanic worms). In the mid-1990s. However. Watson ordered IHGSC scientists to map the complete genome of the simplest and best-known life forms on Earth to refine their technique before attempting to work on the human genome. and sequence every gene on every chromosome. IHGSC scientists chose fruit flies (studied extensively since 1910). and in the press.000 genes (down from the previously believed 100. Watson’s task was to identify. each 300 pages long). .000 genes spread along 23 chromosomes locked onto DNA’s double helix. work began on mapping the tens of millions of base pairs in these simple genomes. detailing the entire sequence of the human genome. not all biologists agreed with this approach. A human’s genetic sequence is only a few percent different from that of many other species. These maps would provide an overview of the human genome and would include only those few “snippets” of actual gene sequences that were already known.000 pages each) would be needed to hold it all. as well as every one of those billions of base pairs. He directed all IHGSC scientists to work toward creating physical and linking maps of the 23 chromosomes.000 to 28. Using the existing (1990) technology. Accusations and ugly words erupted from both sides at congressional hearings. the ability to identify and sequence individual pairs existed. Watson’s problem was one of size. held together by over 3 billion base pairs of molecules. at funding meetings. Certainly. coli (the common intestinal bacterium). A war began between Watson (representing the “top down” approach) and Venter (representing the “bottom up” approach). it has already helped medical researchers make major advances on dozens of diseases and birth defects. the equivalent of 200 volumes the size of a Manhattan telephone book (at 1. Watson decided to start with large-scale maps of what was known about chromosomes and work down toward the details of individual pairs.

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