What is Biology Good For?
Understanding our Molecular Selves: The Human Genome Project

(This assignment is optional. Read this essay and answer the questions at the bottom for 3 extra credit points. It is not necessary to visit the links in the text unless you are interested in more information.)

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In 1990, the Human Genome Project (HGP) began, an international 15-year, $3 billion effort coordinated by the U.S. Department of Energy and the National Institutes of Health to:

-identify all the ~80,000 genes in human DNA,
-make them freely accessible for further biological study
-determine the sequences of the 3 billion bases that make up human DNA,

-store this information in databases,
-develop faster, more efficient
DNA sequencing technologies,
-develop tools for data analysis, and
-address the ethical, legal, and social issues (ELSIs) that may arise from the project.

Human chromosomes were sent to ~20 laboratories around the world to begin the slow, careful process of mapping and sequencing the genome. [Image: Human Genome Project]

Dr. Francis Collins currently heads the National Institutes of Health's (NIH) National Human Genome Research Institute (NHGRI) and Dr. Ari Patrinos heads the Department of Energy's (DOE) Human Genome Program.

Why do scientists want to know the sequence of the human genome? Many human diseases are essentially disorders of genes. Knowing the sequence of the human genome will increase understanding of how genes influences disease development, identify genes associated with diseases, and contribute to the discovery of new treatments for disease.

Speed Matters: J. Craig Venter, an NIH scientist frustrated at the slow pace of sequencing the genome, leaves the NIH in 1992 to form The Institute for Genomic Research (TIGR) with his wife Claire Frasier. Venter and others develop a technique termed Shotgun Sequencing, which relies heavily on automated DNA sequencing machines, and in 1995 are the first group in the world to sequence a complete genome, that of Haemophilus influenzae, a bacteria that causes the flu.

In 1998, Venter teams up with PE Biosystems / Applied Biosystems (ABI) and forms Celera Genomics (Celera is latin for "speed"). The goal: sequence the human genome by December 2001 - 2 years before the completion by the HGP, and for a mere $300 million, one-tenth of the budget allocated for the HGP.

Using 300 newly developed, high speed automated DNA sequencing computers (the ABI Prism 3700, costing $300,000 each), that work 24-hours a day with almost unattended operation, Celera quickly becomes the world's largest, fastest DNA sequencing facility. Venter does a test run on the Drosophila (fruitfly) genome, which is completed within 3 months (Sept 1999), and starts on the human genome sequence. [Image: Time Magazine]


M
eanwhile, back at the Human Genome Project...in late 1998, the HGP announces a 'Fast Track' for completion, releasing new 5-year goals that predict completion of the project by 2003, 2 years earlier than expected. On December 1, 1999, Human Genome Project scientists announce the complete sequencing of the the first human chromosome, Chromosome 22, and shortly thereafter, Chromosome 21 (three copies of this chromosome in a fertilized egg, rather than two, constitutes Down syndrome, or Trisomy 21, a common genetic condition). While both Celera and the Human Genome Project state that "it's not a race", both are attempting to complete the human genome sequence as quickly as possible.

June 26, 2000: The Race is Over: President Clinton, Tony Blair, the Human Genome Project , and Celera announce the completion of a "working draft" sequence of the human genome. The achievement provides scientists with a road map to the location and sequence of an estimated 90% of genes on every chromosome, with all HGP data freely available on the Internet (Information from Celera is available only by paid subscription). Although the first draft contains gaps and errors, it provides a high-quality reference genome sequence -- with the final draft expected by 2003 or sooner. (PS. Celera made the announcement to the White House on April 6, 2000, but decides to wait and make a joint announcement with the HGP).

Material and quotes from this Good For came from:
The Human Genome Project and other links above
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Questions: 3 points extra credit. Click on the links for more information! One sentence should be enough to answer each question . Once you hit 'submit', you will receive a Thank You confirmation page.

Please type your Student ID Number:
LAST name: FIRST Name:

1. List 1 potential benefit of knowing the sequence of the human genome.
2. List 1 potential
drawback of knowing the sequence of the human genome.
3.
Whose genome is being sequenced, anyway?

 

 

J. Craig Venter (l) and Francis Collins (r) at the historic announcement June 26, 2000.

Optional: Provide a caption for this photo!

 

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