What is the Human Genome Project?
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What is the Human Genome Project? Begun formally in 1990, the U.S. Human Genome Project is a 13-year effort coordinated by the U.S. Department of Energy and the National Institutes of Health. The project originally was planned to last 15 years, but rapid technological advances have accelerated the expected completion date to 2003. Project goals are to * identify all the approximate 30,000 genes in human DNA, * determine the sequences of the 3 billion chemical base pairs that make up human DNA, * store this information in databases, * improve tools for data analysis, * transfer related technologies to the private sector, and * address the ethical, legal, and social issues (ELSI) that may arise from the project. To help achieve these goals, researchers also are studying the genetic makeup of several nonhuman organisms. These include the common human gut bacterium Escherichia coli, the fruit fly, and the laboratory mouse. A unique aspect of the U.S. Human Genome Project is that it is the first large scientific undertaking to address the ELSI implications that may arise from the project. Another important feature of the project is the federal government's long-standing dedication to the transfer of technology to the private sector. By licensing technologies to private companies and awarding grants for innovative research, the project is catalyzing the multibillion-dollar U.S. biotechnology industry and fostering the development of new medical applications. What's a genome? And why is it important? * A genome is all the DNA in an organism, including its genes. Genes carry information for making all the proteins required by all organisms. These proteins determine, among other things, how the organism looks, how well its body metabolizes food or fights infection, and sometimes even how it behaves. * DNA is made up of four similar chemicals (called bases and abbreviated A, T, C, and G) that are repeated millions or billions of times throughout a genome.
genomes will allow us to create stronger, more disease-resistant plants and animals --reducing the costs of agriculture and providing consumers with more nutritious, pesticide-free foods. Already growers are using bioengineered seeds to grow insect- and drought-resistant crops that require little or no pesticide. Farmers have been able to increase outputs and reduce waste because their crops and herds are healthier. Alternate uses for crops such as tobacco have been found. One researcher has genetically engineered tobacco plants in his laboratory to produce a bacterial enzyme that breaks down explosives such as TNT and dinitroglycerin. Waste that would take centuries to break down in the soil can be cleaned up by simply growing these special plants in the polluted area. By the Numbers * The human genome contains 3164.7 million chemical nucleotide bases (A, C, T, and G). * The average gene consists of 3000 bases, but sizes vary greatly, with the largest known human gene being dystrophin at 2.4 million bases. * The total number of genes is estimated at 30,000 to 35,000 much lower than previous estimates of 80,000 to 140,000 that had been based on extrapolations from gene-rich areas as opposed to a composite of gene-rich and gene-poor areas. * Almost all (99.9%) nucleotide bases are exactly the same in all people. * The functions are unknown for over 50% of discovered genes. The Wheat from the Chaff * Less than 2% of the genome codes for proteins. * Repeated sequences that do not code for proteins ("junk DNA") make up at least 50% of the human genome. * Repetitive sequences are thought to have no direct functions, but they shed light on chromosome structure and dynamics. Over time, these repeats reshape the genome by rearranging it, creating entirely new genes, and modifying and reshuffling existing genes. * During the past 50 million years, a dramatic decrease seems to have occurred in the rate of accumulation of repeats in the human genome.
Training and Manpower * Nurture the training of scientists skilled in genomics research. * Encourage the establishment of academic career paths for genomic scientists. * Increase the number of scholars who are knowledgeable in both genomic and genetic sciences and in ethics, law, or the social sciences. October 1, 1998 to September 30, 2003 What are some of the pros and cons of gene testing? Gene testing already has dramatically improved lives. Some tests are used to clarify a diagnosis and direct a physician toward appropriate treatments, while others allow families to avoid having children with devastating diseases or identify people at high risk for conditions that may be preventable. Aggressive monitoring for and removal of colon growths in those inheriting a gene for familial adenomatous polyposis, for example, has saved many lives. On the horizon is a gene test that will provide doctors with a simple diagnostic test for a common iron-storage disease, transforming it from a usually fatal condition to a treatable one. Commercialized gene tests for adult-onset disorders such as Alzheimer's disease and some cancers are the subject of most of the debate over gene testing. These tests are targeted to healthy (presymptomatic) people who are identified as being at high risk because of a strong family medical history for the disorder. The tests give only a probability for developing the disorder. One of the most serious limitations of these susceptibility tests is the difficulty in interpreting a positive result because some people who carry a disease-associated mutation never develop the disease. Scientists believe that these mutations may work together with other, unknown mutations or with environmental factors to cause disease. A limitation of all medical testing is the possibility for laboratory errors. These might be due to sample misidentification, contamination of the chemicals used for testing, or other factors. Many in the medical establishment feel that uncertainties surrounding test interpretation, the current lack of available medical options for these diseases, the tests' potential for provoking anxiety, and risks for discrimination and social stigmatization could outweigh the benefits of testing.
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