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.
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