Human Genome Program

The Human Genome Program of the Department of Energy is a focused effort to reach the goals of the U.S. Human Genome Project in cooperation with the extramural division of the National Human Genome Research Institute of the National Institutes of Health. The U.S. project is part of a larger international effort to characterize the genomes of humans and several model organisms. Other genome programs include the DOE microbial genome program, a project to characterize microbes of environmental or industrial interest.

The DOE Human Genome Program includes research projects at universities, DOE genome centers, DOE-owned national laboratories, and other research organizations.

The U.S. Human Genome Project (HGP) is the national coordinated 15-year effort to characterize all the human genetic material—the genome—by improving existing human genetic maps, constructing physical maps of entire chromosomes, and ultimately determining the complete sequence of the deoxyribonucleic acid (DNA) subunits in the human genome. Parallel studies are being carried out on selected model organisms to facilitate the interpretation of human gene function. The ultimate goal of the U.S. project is to discover all of the more than 50,000 human genes and render them accessible for further biological study.

The complete set of instructions for making an organism is called its genome. It contains the master blueprint for all cellular structures and activities for the lifetime of the cell or organism. Found in every nucleus of a persons many trillions of cells, the human genome consists of tightly coiled threads of DNA and associated protein molecules, organized into structures called chromosomes.

If unwound and tied together, the strands of DNA would stretch more than 5 feet but would be only 50 trillionths of an inch wide. For each organism, the components of these slender threads encode all the information necessary for building and maintaining life, from simple bacteria to remarkably complex human beings. Understanding how DNA performs this function requires some knowledge of its structure and organization.

The atlas of the human genome will revolutionize medical practice and biological research into the 21st century and beyond. All human genes will eventually be found, and accurate diagnostics will be developed for most inherited diseases.

Researchers have already identified single genes associated with a number of diseases, such as cystic fibrosis, Duchenne muscular dystrophy, myotonic dystrophy, neurofibromatosis, and retinoblastoma. As research progresses, investigators will also uncover the mechanisms for diseases caused by several genes or by a gene interacting with environmental factors. Genetic susceptibilities have been implicated in many major disabling and fatal diseases including heart disease, stroke, diabetes, and several kinds of cancer. The identification of these genes and their proteins will pave the way to more- effective therapies and preventive measures. Investigators determining the underlying biology of genome organization and gene regulation will also begin to understand how humans develop from single cells to adults, why this process sometimes goes awry, and what changes take place as people age.

New technologies developed for genome research will also find myriad applications in industry, as well as in projects to map (and ultimately improve) the genomes of economically important farm animals and crops.

While human genome research itself does not pose any new ethical dilemmas, the use of data arising from these studies presents challenges that need to be addressed before the data accumulate significantly. To assist in policy development, the ethics component of the Human Genome Project is funding conferences and research projects to identify and consider relevant issues, as well as activities to promote public awareness of these topics.

www.ornl.gov/TechResources/ Human_Genome/publucat/primer/intro.html

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