sign in sign up
<<
Home , Genome project, Genomics, Human genetics, Human genome, Human Genome Project

DOE/SC-0083 and Its Impact on and Society The Project and Beyond

U.S. Department of Energy Programs: genomics.energy.gov

A Primer ells are the fundamental working units of every living system. All the instructions Cneeded to direct their activities are contained within the chemical DNA (deoxyribonucleic acid). DNA from all is made up of the same chemical and physical components. The DNA sequence is the particular side-by-side arrangement of bases along the DNA strand (e.g., ATTCCGGA). This order spells out the exact instruc- tions required to create a particular with complex its own unique traits. The genome is an organism’s complete set of DNA. vary widely in size: The smallest known genome for a free-living organism (a bac- terium) contains about 600,000 DNA base pairs, while human and mouse genomes have some From to 3 billion (see p. 3). Except for mature red blood cells, all human cells contain a complete genome. Although genes get a lot of attention, the proteins DNA in each human is packaged into 46 chro- perform most life functions and even comprise the mosomes arranged into 23 pairs. Each is majority of cellular structures. Proteins are , complex a physically separate molecule of DNA that ranges in molecules made up of chains of small chemical com- length from about 50 million to 250 million base pairs. pounds called amino acids. Chemical properties that A few types of major chromosomal abnormalities, distinguish the 20 different amino acids cause the including missing or extra copies or gross breaks and protein chains to fold up into specific three-dimensional rejoinings (translocations), can be detected by micro- structures that define their particular functions in the cell. scopic examination. Most changes in DNA, however, The constellation of all proteins in a cell is called are more subtle and require a closer analysis of the its . Unlike the relatively unchanging DNA molecule to find perhaps single-base differences. genome, the dynamic proteome changes from minute Each chromosome contains many genes, the to minute in response to tens of thousands of intra- basic physical and functional units of . Genes and extracellular environmental signals. A protein’s are specific sequences of bases that instruc- chemistry and behavior are determined by the tions on how to make proteins. Genes comprise only sequence and by the number and identities of other about 2% of the ; the remainder proteins made in the same cell at the same time and consists of noncoding regions, whose functions may with which it associates and reacts. Studies to explore include providing chromosomal structural integrity protein structure and activities, known as , and regulating where, when, and in what quantity will be the focus of much research for decades to come proteins are made. The human genome is estimated to and will help elucidate the molecular basis of health contain some 25,000 genes. and disease.

Download • PowerPoint Files see p. 12 www.ornl.gov/hgmis/publicat/primer/ U.S. Department of Energy  The Human , 1990–2003 A Brief Overview

hough surprising to many, the Human Genome A Lasting Legacy Project (HGP) traces its roots to an initiative in Tthe U.S. Department of Energy (DOE). Since 1947, In June 2000, to much excitement and fanfare, DOE and its predecessor agencies have been charged announced the completion of the first work- by Congress with developing new energy resources ing draft of the entire human genome. First analyses of and technologies and pursuing a deeper understand- the details appeared in the February 2001 issues of the ing of potential health and environmental risks posed journals and Science. The high-quality reference by their production and use. Such studies, for example, sequence was completed in April 2003, marking the end have provided the scientific basis for individual risk of the —2 years ahead of the assessments of nuclear technologies. original schedule. Coincidentally, it also was the 50th anniversary of Watson and Crick’s publication of DNA In 1986, DOE took a bold step in announcing the structure that launched the era of molecular . Human Genome Initiative, convinced that its missions Available to researchers worldwide, the human would be well served by a reference human genome genome reference sequence provides a magnificent sequence. Shortly thereafter, DOE joined with the and unprecedented biological that will serve National Institutes of Health to develop a plan for a throughout the century as a basis for research and joint HGP that officially began in 1990. During the early discovery and, ultimately, myriad practical applica- years of the HGP, the , a private charita- tions. The sequence already is having an impact on ble institution in the , joined the effort finding genes associated with human disease (see p. 3). as a major partner. Important contributions also came Hundreds of other genome sequence projects—on from other collaborators around the world, including microbes, , and —have been completed , , , and . since the inception of the HGP, and these data now enable detailed comparisons among organisms, Ambitious Goals including . The HGP’s ultimate goal was to generate a Many more projects are under way high-quality reference DNA sequence for the human or planned because of the research value of DNA genome’s 3 billion base pairs and to identify all human sequence, the tremendous sequencing capacity now genes. Other important goals included sequencing the available, and continued improvements in technolo- genomes of model organisms to interpret human DNA, gies. Sequencing projects on the genomes of many enhancing computational resources to support future microbes, as well as the , pig, sheep, and research and commercial applications, exploring gene domestic cat, are in progress. through mouse-human comparisons, study- ing human variation, and training future scientists in Beyond sequencing, growing areas of research genomics. focus on identifying important elements in the DNA sequence responsible for regulating cellular functions The powerful analytical technology and data aris- and providing the basis of human variation. Perhaps ing from the HGP present complex ethical and policy the most daunting challenge is to begin to understand issues for individuals and society. These challenges how all the “parts” of cells—genes, proteins, and many include privacy, fairness in use and access of genomic other molecules—work together to create complex liv- information, reproductive and clinical issues, and com- ing organisms. Future analyses of this treasury of data mercialization (see p. 8). Programs that identify and will provide a deeper and more comprehensive under- address these implications have been an integral part standing of the molecular processes underlying life and of the HGP and have become a model for will have an enduring and profound impact on how we programs worldwide. view our own place in it.

 U.S. Department of Energy Office of Science www.ornl.gov/hgmis/publicat/primer/ Insights from the Human DNA Sequence

he first panoramic views of the human genetic • Genes appear to be concentrated in random areas landscape have revealed a wealth of informa- along the genome, with vast expanses of noncoding Ttion and some early surprises. Much remains to DNA between. be deciphered in this vast trove of information; as the • (the largest human chromosome) consortium of HGP scientists concluded in their seminal has the most genes (3,168), and has paper, “. . . the more we learn about the human genome, the fewest (344). the more there is to explore.” A few highlights follow from the first publications analyzing the sequence. • Particular gene sequences have been associated with • The human genome contains 3.2 billion chemical numerous diseases and disorders, including breast base pairs (A, C, T, and G). , muscle disease, deafness, and blindness. • The average gene consists of 3,000 base pairs, but • Scientists have identified millions of locations sizes vary greatly, with the largest known human where single-base DNA differences (see p. 9) occur gene being at 2.4 million base pairs. in humans. This information promises to revolution- ize the processes of finding DNA sequences associ- • Functions are unknown for more than 50% of discov- ated with such common diseases as cardiovascular ered genes. disease, diabetes, arthritis, and . • The human genome sequence is almost exactly the same (99.9%) How Does the Human Genome Stack Up? in all people. Estimated About 2% of the genome encodes Organism • (Base Pairs) Genes instructions for the synthesis of proteins. Human (Homo sapiens) 3.2 billion 25,000 • Repeat sequences that do not Laboratory mouse (M. musculus) 2.6 billion 25,000 code for proteins make up at least Mustard weed (A. thaliana) 100 million 25,000 50% of the human genome. Roundworm (C. elegans) 97 million 19,000 • Repeat sequences are thought Fruit fly D.( melanogaster) 137 million 13,000 to have no direct functions, but Yeast (S. cerevisiae) 12.1 million 6,000 they shed on chromosome structure and dynamics. Over Bacterium (E. coli) 4.6 million 3,200 time, these repeats reshape Human immunodeficiency (HIV) 9,700 9 the genome by rearranging it, The estimated number of human genes is only one-third as great as previously thereby creating entirely new thought, although the numbers may be revised as more computational and genes or modifying and reshuf- experimental analyses are performed. fling existing genes. Scientists suggest that the genetic key to human complexity lies not in gene • The human genome has a much number but in how gene parts are used to build different products in a process called . Other underlying reasons for greater complexity are greater portion (50%) of repeat the thousands of chemical modifications made to proteins and the repertoire sequences than the mustard of regulatory mechanisms controlling these processes. weed (11%), the worm (7%), and the fly (3%). • Over 40% of predicted human proteins share similarity with fruit-fly or worm proteins.

www.ornl.gov/hgmis/publicat/primer/ U.S. Department of Energy Office of Science  Managing and Using the Data Boom

assive quantities of genomic data and high- Bioinformatics is the term coined for the new field that throughput technologies are now enabling merges biology, computer science, and information Mstudies on a vastly larger scale than ever technology to manage and analyze the data, with the before. Examples include simultaneously monitoring ultimate goal of understanding and modeling living and comparing the activity of tens of thousands of systems. Computing and information demands will genes in cancerous and noncancerous tissue. Advanced continue to rise with the explosive torrent of data computational tools and interdisciplinary experts are from large-scale studies at the molecular, cellular, and needed to capture, represent, store, integrate, distrib- whole-organism levels. ute, and analyze the data.

Gene Gateway: A User-Friendly Guide to Genome, Gene, and Protein http:// genomics.energy.gov/genegateway/

ll Human Genome Project data and much related infor- mation are freely available on the web, but how do you Afind and use these rich resources? The Gene Gateway website provides introductory guides and step-by-step tutori- als that show how to access and explore genome, gene, and protein databases used by scientists. Gene Gateway demon- strates how to gather information from different databases to gain a better understanding of the behind life processes. The site offers a free workbook downloadable in PDF format. Tutorials • Identify genes associated with various genetic conditions and biological processes • Learn about that cause genetic disorders • Browse a genome and find a gene’s location on a chromosome map • View the DNA sequence of a gene or sequence of a gene’s protein product • Visualize and modify three-dimensional representations of protein structures

Gene Gateway was created as a companion to the Human Genome Landmarks wall poster (see back page).

 U.S. Department of Energy Office of Science www.ornl.gov/hgmis/publicat/primer/ Medicine and the New Gene Testing, , and

NA underlies almost every aspect of human these gene tests is that they could provide information health, both in function and dysfunction. to help physicians and patients manage the disease or DObtaining a detailed picture of how genes and condition more effectively. Regular colonoscopies for other DNA sequences work together and inter- those having mutations associated with colon act with environmental factors ultimately will cancer, for instance, could prevent thousands lead to the discovery of pathways involved of deaths each year. in normal processes and in disease Some scientific limitations are pathogenesis. Such knowledge will that the tests may not detect every have a profound impact on the associated with a par- way disorders are diagnosed, ticular condition (many are as treated, and prevented and will yet undiscovered), and the ones bring about revolutionary changes they do detect may present different in clinical and public health practice. risks to various people and populations. Some of these transformative develop- Another important consideration in gene ments are described below. testing is the lack of effective treatments Gene Testing or preventive measures for many diseases and conditions now being diagnosed or DNA-based tests are among the first predicted. commercial medical applications of the Knowledge about the risk of poten- new genetic discoveries. Gene tests can tial future disease can produce significant be used to diagnose and confirm disease, emotional and psychological impacts. even in asymptomatic individuals; provide Because genetic tests reveal information prognostic information about the course of disease; and, with varying degrees of about individuals and their families, test accuracy, predict the risk of future disease results can affect family dynamics. Results in healthy individuals or their progeny. also can pose risks for population groups if they lead to group stigmatization. Currently, several hundred genetic tests are in clinical use, with many more Other issues related to gene tests under development, and their numbers include their effective introduction into and varieties are expected to increase clinical practice, the regulation of labo- rapidly over the next decade. Most current ratory quality assurance, the availability of tests detect mutations associated with rare testing for rare diseases, and the education of genetic disorders that follow healthcare providers and patients about correct inter- patterns. These include myotonic and Duchenne pretation and attendant risks. muscular dystrophies, , neurofibromato- Families and individuals who have genetic disor- sis type 1, sickle cell anemia, and Huntington’s disease. ders or are at risk for them often seek help from medi- Recently, tests have been developed to detect cal (an M.D. specialty) and genetic coun- mutations for a handful of more complex conditions selors (graduate-degree training). These professionals such as breast, ovarian, and colon cancers. Although can diagnose and explain disorders, review available they have limitations, these tests sometimes are used to options for testing and treatment, and provide emo- make risk estimates in presymptomatic individuals with tional support. (For more information, see the URL for a family history of the disorder. One potential benefit to Medicine and the New Genetics, p. 12.)

www.ornl.gov/hgmis/publicat/primer/ U.S. Department of Energy Office of Science  Pharmacogenomics: Moving additional targets. New drugs, aimed at specific sites in the body and at particular biochemical events leading Away from “One-Size-Fits-All” to disease, probably will cause fewer side effects than Therapeutics many current . Ideally, genomic drugs could Within the next decade, researchers will begin be given earlier in the disease process. As knowledge to correlate DNA variants with individual responses becomes available to select patients most likely to to medical treatments, identify particular subgroups benefit from a potential drug, pharmacogenomics will of patients, and develop drugs customized for those speed the design of clinical trials to market the drugs populations. The disci- sooner. pline that blends phar- macology with genomic Gene Therapy, Enhancement capabilities is called The potential for using genes themselves to treat pharmacogenomics. disease or enhance particular traits has captured the More than 100,000 imagination of the public and the biomedical com- people die each year munity. This largely experimental field—gene transfer from adverse responses or gene therapy—holds potential for treating or even to that may curing such genetic and acquired diseases as cancers be beneficial to others. and AIDS by using normal genes to supplement or Another 2.2 million replace defective genes or to bolster a normal func- experience serious tion such as immunity. reactions, while others Almost 1,200 clinical gene-therapy trials were fail to respond at all. DNA variants in genes involved identified worldwide in 2006.* The majority (67%) in drug metabolism, particularly the take place in the , followed multigene family, are the by (29%). Although most trials focus of much current research in this area. focus on various types of cancer, studies Enzymes encoded by these genes are also involve other multigenic and mono- responsible for metabolizing most drugs genic, infectious, and vascular diseases. used today, including many for treating Most current protocols are aimed at psychiatric, neurological, and cardiovas- establishing the safety of gene-delivery cular diseases. Enzyme function affects procedures rather than effectiveness. patient responses to both the drug Gene transfer still faces many and the dose. Future advances will scientific obstacles before it can enable rapid testing to determine the become a practical approach for patient’s and guide treat- treating disease. According to the ment with the most effective drugs, American Society of ’ in addition to drastically reducing Statement on Gene Therapy, effec- adverse reactions. tive progress will be achieved only Genomic data and technologies through continued rigorous research also are expected to make drug devel- on the most fundamental mecha- opment faster, cheaper, and more nisms underlying and effective. Most drugs today are based in animals. on about 500 molecular targets, but genomic knowledge of genes involved in diseases, disease path- *Source: Journal of Gene Medicine web- ways, and drug-response sites will site (www.wiley.co.uk/genetherapy/ lead to the discovery of thousands of clinical/), August 2006.

 U.S. Department of Energy Office of Science www.ornl.gov/hgmis/publicat/primer/ Other Anticipated Benefits of Genetic Research Expanding Impacts of New Technologies, Resources apid progress in genome science and a glimpse , , into its potential applications have spurred , and Human Migration Robservers to predict that biology will be the foremost science of the . Technology and • Study evolution through germline mutations resources generated by the Human Genome Project in lineages and other genomic research already are having major • Study migration of different population impacts across the life . The groups based on maternal genetic inheritance industry employed more than 250,000 people in 2006, • Study mutations on the Y chromosome to trace and revenues for 2005 totaled more than $50.7 billion.* lineage and migration of males Future revenues are expected to reach trillions of dollars. A list of some current and potential applications • Compare breakpoints in the evolution of of genome research follows. More studies and public dis- mutations with population ages and cussion are required for eventual validation and imple- historical events mentation of some of these uses (see p. 8). DNA Identification • Identify potential suspects whose DNA may match evidence left at crime scenes • Improve diagnosis of disease • Exonerate people wrongly accused of crimes • Detect genetic predispositions to disease • Identify crime, catastrophe, and other victims • Create drugs based on molecular information • Establish paternity and other family relationships • Use gene therapy and control systems as drugs • Identify endangered and protected species as • Design “custom drugs” based on individual genetic an aid to wildlife officials (e.g., to prosecute poachers) profiles • Detect and other organisms that could Microbial Genomics pollute air, water, soil, and food • Match organ donors with recipients in Rapidly detect and treat (disease-causing • transplant programs microbes) in clinical practice • Determine pedigree for seed or livestock breeds • Develop new energy sources () • Authenticate consumables such as caviar and wine • Monitor environments to detect pollutants • Protect citizenry from biological and chemical , Livestock Breeding, warfare and Bioprocessing • Clean up toxic waste safely and efficiently • Grow disease-, -, and drought-resistant crops • Optimize crops for bioenergy production • Evaluate the health risks faced by individuals who • Breed healthier, more productive, disease-resistant may be exposed to radiation (including low levels farm animals in industrial areas) and to cancer-causing chemicals • Grow more nutritious produce and toxins • Develop biopesticides • Incorporate edible vaccines into food products *Source: Biotechnology Industry Organization website • Develop new environmental cleanup uses for plants (www.bio.org), June 2008. such as tobacco

www.ornl.gov/hgmis/publicat/primer/ U.S. Department of Energy Office of Science  Societal Concerns Arising from the New Genetics Critical Policy and Ethical Issues

rom its inception, the Human Genome Project dedicated funds to identify and address the ethi- New Genetics Privacy Act Becomes Law cal, legal, and social issues surrounding the avail- F The Genetic Information Nondiscrimination Act ability of new genetic data and capabilities. Examples of such issues follow.* (GINA) became law on May 21, 2008. GINA prohibits U.S. health insurance companies and employers • Privacy and confidentiality of genetic informa- from discrimination on the basis of information tion. Who owns and controls genetic information? Is derived from genetic tests. In addition, insurers and genetic privacy different from medical privacy? employers are not allowed under the law to request • Fairness in the use of genetic information by or demand a genetic test. insurers, employers, courts, schools, adoption agencies, and the military, among others. Who should have access to personal genetic informa- • Uncertainties associated with gene tests for sus- tion, and how will it be used? ceptibilities and complex conditions (e.g., heart disease, diabetes, and Alzheimer’s disease). Should • Psychological impact, stigmatization, and discrimi- testing be performed when no treatment is available nation due to an individual’s genetic makeup. How or when interpretation is unsure? Should children be does personal genetic information affect self-iden- tested for susceptibility to adult-onset diseases? tity and society’s perceptions? • Conceptual and philosophical implications regard- • Reproductive issues including adequate and ing human responsibility, free will vs genetic informed consent and the use of genetic informa- determinism, and understanding of health and tion in reproductive decision making. Do health- disease. Do our genes influence our behavior, and care personnel properly counsel parents about risks can we control it? What is considered acceptable and limitations? What larger societal issues are raised diversity? Where is the line drawn between medical by new reproductive technologies? treatment and enhancement? • Clinical issues including the education of doctors • Health and environmental issues concern- and other health-service providers, ing genetically modified (GM) foods and people identified with genetic microbes. Are GM foods and other prod- conditions, and the general ucts safe for humans and the environ- public; and implementation of ment? How will these technologies standards and quality-control affect developing nations’ depen- measures. How should health dence on industrialized nations? professionals be prepared for the new genetics? How can the pub- • Commercialization of prod- lic be educated to make informed ucts including property rights choices? How will genetic tests be (patents, copyrights, and trade evaluated and regulated for accuracy, secrets) and accessibility of reliability, and usefulness? (Currently, data and materials. Will patent- there is little regulation.) How does soci- ing DNA sequences limit their ety balance current scientific limitations accessibility and development and social risk with long-term benefits? into useful products?

• Fairness in access to advanced genomic technologies. Who will benefit? Will there *For more information, see the Ethical, be major worldwide inequities? Legal, and Social Issues URL, p. 12.

 U.S. Department of Energy Office of Science www.ornl.gov/hgmis/publicat/primer/ Beyond the Human Genome Project—What’s Next? Genome Sequences: Paving the Way for a More Comprehensive Understanding

Building a “Systems Level” View sites in a genome where individuals differ in their DNA of Life sequence, often by a single base. For example, one person might have the DNA base A where another NA sequences generated in hundreds of might have C, and so on. Scientists believe the human genome projects now provide scientists with genome has at least 10 million SNPs, and they are gen- the “parts lists” containing instructions for how D erating different types of maps of these sites, which an organism builds, operates, maintains, and reproduces can occur in both genes and noncoding regions. itself while responding to various environmental conditions. We Sets of SNPs on the same chromosome are How does still have very little knowledge inherited in blocks (). In 2005 a consor- of how cells use this informa- tium of researchers from six countries completed the a living cell tion to “come alive,” however, first phase of a map of SNP patterns that occur across work? and the functions of most populations in Africa, Asia, and the United States. genes remain unknown. Nor do Researchers hope that dramatically decreasing the we understand how genes and the number of individual SNPs to be scanned will provide proteins they encode interact with each other and with a shortcut for tracking down the DNA regions associ- the environment. If we are to realize the potential of the ated with such common complex diseases as cancer, genome projects, with far-ranging applications to such heart disease, diabetes, and some forms of mental ill- diverse fields as medicine, energy, and the environment, ness. The new map also may be useful in understand- we must obtain this new level of knowledge. ing how contributes to responses to environmental factors. One of the greatest impacts of having whole- genome sequences and powerful new genomic tech- nologies may be an entirely new approach to conduct- How Do Genetic Variations (SNP ing biological research. In the past, researchers studied Patterns) Differ Across Populations? one or a few genes or proteins at a time. Because biological processes are intertwined, these strategies provided incomplete—and often inaccurate—views. Researchers now can approach questions systemati- cally and on a much grander scale. They can study all the genes expressed in a particular environment or all the gene products in a specific tissue, organ, or tumor. Other analyses will focus on how tens of thousands of genes and proteins work together in interconnected networks to orchestrate the chemistry of life. These holistic studies are the focus of a new field called “sys- tems biology” (see DOE Genomics:GTL Program, p. 10).

Charting Human Variation Slight variations in our DNA sequences can have a major impact on whether or not we develop a disease and on our responses to such environmental factors as infectious microbes, toxins, and drugs. One of the most common types of sequence variation is the single nucleotide polymorphism (SNP). SNPs are

www.ornl.gov/hgmis/publicat/primer/ U.S. Department of Energy Office of Science  DOE Genomics:GTL Program Exploring Genomes for Energy and Environmental Applications

he Genomics:GTL (formerly Genomes to Life) harnessed for such uses, however, they must be program of the U.S. Department of Energy (DOE) understood in far greater detail and in the context of Tis using the Human Genome Project’s tech- their operations within a dynamic, living organism. nological achievements to help solve our growing To obtain this whole-systems knowledge, GTL energy and environmental challenges. investigates relevant and microbial properties Today, genomics is the starting point for a new on multiple levels. Starting with the DNA sequence, level of exploration across the life sciences. The GTL studies follow its expression (e.g., protein produc- research program uses genomic (DNA) sequences of tion, interactions, and regulation) in individual cells microbes and plants to launch large-scale investiga- and populations of cells or organisms in ecosystems. tions into their wide-ranging biochemical capabilities Integrating genomic and many other data types into having potential applications in bioenergy and the a computerized knowledgebase will stimulate new environment (see sidebar below). Before these bio- research strategies and insights needed for special- logical processes can be safely and economically ized applications.

GTL Investigations of Microbial and Plant Genomes

icrobes and plants have evolved unique bio- down plant cellulose into sugars chemistries, offering a rich resource that can needed for ethanol production. Mbe applied to diverse national needs. Some Termites also produce hydrogen as a recent projects funded by the DOE Genomics:GTL by-product, a process that poten- program highlight the potential wealth of natural tially could be reproduced on a capabilities available. larger scale. Plants for Biomass, Carbon Storage Synthetic Nanostructures: Understanding the Harnessing Microbial genes and regula- Enzyme Functions tory mechanisms Enzymes incorporated into synthetic membranes controlling growth can carry out some of the functions of living cells and and other traits may be useful for generating energy, inactivating in the recently contaminants, and sequestering atmospheric carbon. sequenced poplar tree may lead to its use for bioethanol production and for sequestration (stor- age) of carbon. Microbes Living in Termites: A Potential Source of Enzymes for Bioenergy Production GTL researchers are investigating bacteria that live in termite hindguts and churn out wood-digesting enzymes. These proteins may be usable for breaking Image: Mike Perkins/PNNL

10 U.S. Department of Energy Office of Science www.ornl.gov/hgmis/publicat/primer/ Genomes for Bioenergy Cellulosic Biomass: An Abundant, Secure Energy Source to Reduce U.S. Dependence on Gasoline

ioethanol made from cellulosic biomass—the cellulose-based ethanol can be used as a fuel addi- inedible, fibrous portions of plants—offers a tive to improve gasoline combustion in today’s Brenewable, sustainable, and expandable domestic vehicles. Modest engine modifications are required resource to meet the growing demand for transporta- to use higher blends (85% ethanol). Additionally, the tion fuels and reduce our dependence on oil. amount of carbon dioxide emitted to the atmosphere The United States now produces 7 billion gallons from producing and burning ethanol is far less than of corn-grain ethanol per year, a fraction of the 142 bil- that released from gasoline. lion gallons of transportation fuel used annually. Cellu- To accelerate technological breakthroughs, the losic ethanol has the potential to dramatically increase DOE Genomics:GTL program will establish research the availability of ethanol and help meet the national centers to target specific DOE mission challenges. goal of displacing 30% of gasoline by 2030. Three DOE Bioenergy Research Centers are focused on Cellulose is the most abundant biological mate- overcoming biological challenges to cellulosic ethanol rial on earth. The crops used to make cellulosic ethanol production. In addition to ethanol, these centers are (e.g., postharvest corn plants—not corn grain—and exploring ways to produce a new generation of switchgrass) can be grown in most states and often petroleum-like biofuels and other advanced energy on marginal lands. As with ethanol from corn grain, products from cellulosic biomass.

Download flyer at http://genomicsgtl.energy.gov/biofuels/placemat.shtml

www.ornl.gov/hgmis/publicat/primer/ U.S. Department of Energy Office of Science 11 For More Information Related Websites • Human Genome Project Information • DOE Genomics:GTL Program www.ornl.gov/hgmis/home.shtml genomicsgtl.energy.gov • Medicine and the New Genetics • Focus on Biofuels www.ornl.gov/hgmis/medicine/ genomicsgtl.energy.gov/biofuels/ • Ethical, Legal, and Social Issues • National Geographic: The www.ornl.gov/hgmis/elsi/ www.nationalgeographic.com/genographic/ • Genetics Privacy and Legislation • International HapMap Project www.ornl.gov/hgmis/elsi/legislat.shtml www.hapmap.org • Gene Gateway genomics.energy.gov/genegateway/ Free Wall Poster of Human • Image Gallery (downloadable) and Genes genomics.energy.gov/gallery/ • Resources for Teachers The poster also features sidebars explaining genetic www.ornl.gov/hgmis/education/ terms, with URLs for finding more detailed informa- • Resources for Students tion (see web companion, Gene Gateway, p. 4). www.ornl.gov/hgmis/education/students.shtml Order free copies via the web: • Careers in Genetics and the Biosciences • genomics.energy.gov/posters/ www.ornl.gov/hgmis/education/careers.shtml Or see contact information below left. • DOE Joint Genome Institute www.jgi.doe.gov • NIH National Human Genome Research Institute www.genome.gov • Genomes OnLine (GOLD) www.genomesonline.org • National Center for Biotechnology Information www.ncbi.nlm.nih.gov

Genomics and Its Impact on Science and Society: The Human Genome Project and Beyond

This document was revised in June 2008 by the Genome Management Information System (GMIS) at Oak Ridge National Laboratory, Oak Ridge, Tennessee, for the Office of Biological and Environmental Research within the U.S. Department of Energy Office of Science.

Free Copies and Presentation Materials • Individual print copies or class sets Contact: [email protected], 865/574-0597 • Downloadable files A PDF version of this document and accompany- ing PowerPoint file are accessible via the web (www.ornl.gov/hgmis/publicat/primer).

June 2008 12 U.S. Department of Energy Office of Science www.ornl.gov/hgmis/publicat/primer/

Printed with soy ink on recycled paper