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| Vol. 21, No. 23 |
| December 15, 1999 |
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April 1999 by KRISTINA VAN ARSDEL Texas Medical Center News Colorful charts stretch down the hall outside the Human Genome Sequencing Center laboratory at Baylor College of Medicine. These charts may look haphazard, but in fact they are about order. Center Director Dr. Richard Gibbs and his staff are involved in an international effort to determine the order, or sequence, of DNA's building blocks, an effort that will one day provide researchers with a genetic blueprint of the human body. They may need more wall space in the next few years. Baylor's Human Genome Sequencing Center is among three U.S. sites selected by the National Human Genome Research Institute (NHGRI) to conduct the final phase of the landmark Human Genome Project. The NHGRI awarded the center an $80 million, five-year federal grant to fund its work on the final phase. The human genome is the collective name for the 100,000 genes in each cell of the human body. The genes are located on the cell's 23 chromosome pairs - one set comes from the mother and the other set from the father to form a unique genetic makeup. Genes provide instructions for the cell, determining how the cell will function and reproduce. This genetic recipe is encoded in a "language" known as deoxyribonucleic acid or DNA, structured as a double-helix ladder. Broken down into its parts, DNA consists of four chemical bases - adenine (A), thymine (T), cytosine (C) and guanine (G). When these bases are strung together, they direct the building of a protein. The protein product is instrumental in helping the cell perform its function. The goals of the Human Genome Project are to identify all of the genes and determine the order or "sequence" of the bases, thus, cracking the code to the cell's genetic instructions. "We envision creating this database with all the human genes properly described in it," Dr. Gibbs says. "If you were a researcher, you could get a clue from your experiments and then go to the database and find 100 leads to test. "The genetic information will be digitized so it will be right there for researchers to access and use," he adds. The NHGRI announcement on March 15 marked the end of a three-year pilot program in which Baylor's sequencing center and others around the world tested technologies and strategies for sequencing DNA in preparation for the final phase. The eight pilot sites demonstrated the ability to produce high-quality sequencing segments with a low rate of error that was compliant with or surpassed international accuracy standards of no more than one error in 10,000 bases. According to recent assessments, error rates among the leading sequencers are as low as 10 errors per 1 million bases sequenced. The pilot program effort produced 10 percent of the human genome (or 260 million of the total 3 billion DNA base pairs) in a finished form. "We've set for ourselves this very ambitious, but very doable, goal," says Dr. Gibbs. "The sequencing rate has increased dramatically in the last year because of technical improvements." The final map will literally put information at researchers' fingertips. Using their computers, researchers will be able to access the sequence data and use it as a tool for learning more about the human body and disease at the molecular level. The NHGRI chose the three U.S. sites - Baylor, Washington University Medical School in St. Louis and the Whitehead Institute in Cambridge, Mass. - following a peer review of those centers that completed 15 million bases of sequencing in a finished form by December 1998. The Human Genome Project, spearheaded by the National Institutes of Health and the U.S. Department of Energy, formally began in 1990. The international consortium on board for the final phase include the three NHGRI centers, the Joint Genome Institute of the U.S. Department of Energy, and the Sanger Centre in the United Kingdom, which is funded by the Wellcome Trust.
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