! ! ! ! ! ! ! ! ! ! ! ! ! ! ! ! ! ! DNA is very important and has multiple uses or jobs. One of its jobs are making proteins.

First the gene is transcribed and makes RNA copy itself then it's transcript to make protein.! ! ! ! ! ! ! ! ! ! Just a half-century ago, very little was known about the genetic factors that contribute to human disease.! In 1953, James Watson and Francis Crick described the double helix structure of deoxyribonucleic acid (DNA), the chemical compound that contains the genetic instructions for building, running and maintaining living organisms.! Methods to determine the order, or sequence, of the chemical letters in DNA were developed in the mid-1970s.!

In 1990, the National Institutes of Health (NIH) and the Department of Energy joined with international partners in a quest to sequence all 3 billion letters, or base pairs, in the human genome, which is the complete set of DNA in the human body. This concerted, public e"ort was the Human Genome Project.! The Human Genome Projects goal was to provide researchers with powerful tools to understand the genetic factors in human disease, paving the way for new strategies for their diagnosis, treatment and prevention.! From the start, the Human Genome Project supported an Ethical, Legal and Social Implications research program to address the many complex issues that might arise from this science.! All data generated by the Human Genome Project were made freely and rapidly available on the Internet, serving to accelerate the pace of medical discovery around the globe.! The Human Genome project spurred a revolution in biotechnology innovation around the world and played a key role in making the U.S. the global leader in the new biotechnology sector.! In April 2003, researchers successfully completed the Human Genome Project, under budget and more than two years ahead of schedule.! ! TODAY! ! The Human Genome Project has already fueled the discovery of more than 1,800 disease genes.! As a result of the Human Genome Project, todays researchers can nd a gene suspected of causing an inherited disease in a matter of days, rather than the years it took before the genome sequence was in hand.! There are now more than 2,000 genetic tests for human conditions. These tests enable patients to learn their genetic risks for disease and also help healthcare professionals to diagnose disease.! At least 350 biotechnology-based products resulting from the Human Genome Project are currently in clinical trials.! Having the complete sequence of the human genome is similar to having all the pages of a manual needed to make the human body. The challenge now is to determine how to read the contents of these pages and understand how all of these many, complex parts work together in human health and disease.!

One major step toward such comprehensive understanding was the development in 2005 of the HapMap (http://hapmap.ncbi.nlm.nih.gov/), which is a catalog of common genetic variation, or haplotypes, in the human genome. In 2010, the third phase of the HapMap project was published, with data from 11 global populations, the largest survey of human genetic variation performed to date. HapMap data have accelerated the search for genes involved in common human diseases, and have already yielded impressive results in nding genetic factors involved in conditions ranging from age-related blindness to obesity.! The tools created through the Human Genome Project continue to underlie e"orts to characterize the genomes of important organisms used extensively in biomedical research, including fruit ies, roundworms, and mice.! NIHs Ethical, Legal and Social Implications program has become a model for other research e"orts seeking to address ethical issues in a proactive manner (http://www.genome.gov/10001618).! With the drastic decline in the cost of sequencing whole exomes or genomes, groundbreaking comparative genomic studies are now identiying the causes of rare diseases such as Kabuki and Miller syndromes.! Much work still remains to be done. Despite many important genetic discoveries, the genetics of complex diseases such as heart disease are still far from clear.! Pharmacogenomics is a eld that looks at how genetic variation a"ects an individuals response to a drug. Pharmacogenomic tests can already identify whether or not a breast cancer patient will respond to the drug Herceptin, whether an AIDS patient should take the drug Abacavir, or what the correct dose of the blood-thinner Warfarin should be.! ! TOMORROW! ! An ambitious new initiative, The Cancer Genome Atlas (http:// cancergenome.nih.gov/), aims to identify all the genetic abnormalities seen in 50 major types of cancer.! Based on a deeper understanding of disease at the genomic level, we will see a whole new generation of targeted interventions, many of which will be drugs that are much more e"ective and cause fewer side e"ects than those available today.!

NIH-supported access to high-throughput screening of small molecule libraries will provide academic researchers with powerful new research probes to explore the hundreds of thousands of proteins believed to be encoded by the approximately 25,000 genes in the human genome, and will provide innovative techniques to spur development of new, more e"ective, types of drugs.! NIH is striving to cut the cost of sequencing an individuals genome to $1,000 or less. Having ones complete genome sequence will make it easier to diagnose, manage and treat many diseases.! Individualized analysis based on each persons genome will lead to a powerful form of preventive, personalized and preemptive medicine. By tailoring recommendations to each persons DNA, health care professionals will be able to work with individuals to focus e"orts on the specic strategies from diet to high-tech medical surveillance that are most likely to maintain health for that particular individual.! The increasing ability to connect DNA variation with non-medical conditions, such as intelligence and personality traits, will challenge society, making the role of ethical, legal and social implications research more important than ever.! For additional information contact: The Communications and Public Liaison Branch, NHGRI, at (301) 402-0911 ! ! National Human Genome Research Institute (NHGRI) http:// www.genome.gov/! ! ! ! ! ! ! ! ! ! The Human Genome Project is expected to produce a sequence of DNA representing the functional blueprint and evolutionary history of the human species. However, only about 3% of this sequence is thought to specify the portions of our 50,000 to 100,000 genes that encode proteins. Thus an important part of basic and applied genomics is to identify and

localize these genes in a process known as transcript mapping. When genes are expressed, their sequences are rst converted into messenger RNA transcripts, which can be isolated in the form of complementary DNAs (cDNAs). Approximately half of all human genes had been sampled as of 15 June, 1996.! ! A small portion of each cDNA sequence is all that is needed to develop unique gene markers, known as sequence tagged sites or STSs, which can be detected in chromosomal DNA by assays based on the polymerase chain reaction (PCR). To construct a transcript map, cDNA sequences from a master catalog of human genes were distributed to mapping laboratories in North America, Europe, and Japan. These cDNAs were converted to STSs and their physical locations on chromosomes determined on one of two radiation hybrid (RH) panels or a yeast articial chromosome (YAC) library containing human genomic DNA. This mapping data was integrated relative to the human genetic map and then crossreferenced to cytogenetic band maps of the chromosomes. (Further details are available in the accompanying article in the 25 October issue of SCIENCE).! ! The histograms reect the distributions and densities of genes along the chromosomes. Because the individual genes (>16,000) are too numerous to represent, images have been chosen to illustrate the myriad aspects of human biology, pathology, and relationships with other organisms that can be revealed by analysis of genes and their protein products.! ! Genome Maps 1996 ! Show Featured Genes! ! Credits / Abstract / Glossary! ! Browse by Chromosome! 123456! 7 8 9 10 11 12 ! 13 14 15 16 17 18 ! 19 20 21 22 X Y! ! ..!

! ! e Human Genome Project (HGP) is an international thirteen-year project that began on October 1990. It is important because it uses information from DNA to develop new ways to treat, cure, or even prevent the thousands of diseases that a#ict humankind. But the road from gene identication to e"ective treatments is long and fraught with challenges. The Department of Energy's (DOE) Human Genome Program, directed by Ari Patinus and the National Institute of Health's National Human Genome Research Institute (NHGRI) directed by Francis Collins, together make up the United States Human Genome Project. At least eighteen countries have established genome research programs. Some of the larger programs are in Australia, Canada, Italy and Mexico. The Human Genome Organization (HUGO) helps to organize international collaboration in the genome project. In June 2000, international leaders of the HGP conrmed that the rough drafts of the human genome had been completed a year ahead of schedule. The draft sequence will provide a gibbet of sequence across ninety percent of the human genome. E"orts are still underway to complete the high quality DNA reference sequence by 2003.! The goal of the Human Genome Project is to identify all the approximate 30,000 genes in human DNA. It determines the sequence of the three billion chemical base pairs that make up human DNA and store this information in data bases. It improve tools for data analysis, transfer related technologies to the private sector and addresses the ethical, legal and social issues that may arise form the project.! ! Technology and resources created by the HGP already have a major input on research across the life sciences. There are some potential benets of HGP research to they are molecular medicine, microbial genome, risk assessment, evolution, DNA forensic and agriculture. The HGP is "starting to have profound impact on the biomedical research and promise to revolutionize the wider spectrum of biological research and medical medicine" (1).! ! With the HGP molecular medicine can improve diagnosis of disease, detect genetic predispositions to disease earlier, ration drug design, control gene therapy and control systems of drugs, and create pharamacogenomics customs drugs. The potential for using genes

themselves to treat disease, known as gene therapy, has captured the imaginations of the public and the biomedical community for good reason. This rapidly developing eld holds great potential for treating or even curing genetic and acquired diseases.! ! In 1994 DOE initiated the Microbial Genome project to sequence the genomes of bacteria that is useful in energy production, toxic waste reduction, environmental remediation, and industrial processing. Microbial genomic will also help pharmaceutical researchers gain a better understanding of how pathogenic microbes cause disease. Sequencing their microbes will help reveal vulnerabilities and identify new drug tests." "Gaining a deeper understanding of the microbial world also will provide insights into the strategies and limits of life on this planet"(1). Within the next decade, researchers will nd most human genes. A major challenge for the 21st century is to show how faulty genes play a role in disease causation. Drug design will be revolutionized as researchers create new classes of medicines based on a reasoned approach using gene sequence and protein structure function information. The drugs, targeted to specic sites in the body, promise to have fewer side e"ects than many of today's medicines.! ! Genomic study will have a huge impact on the ability to assess risks posed to individuals by exposure to toxic agents. This knowledge will address DOE's mission to understand the e"ects of low-level exposures to radiation and other energy-related causes especially in terms of risk of cancer.! ! Genetics will help us understand human evolution and the common life that we all share in biology. In the Human Genome Project human evolution research is study evolution through germline mutations in lineages, study migration of di"erent population groups based on female genetic inheritance, study mutations of the Y chromosome to trace lineage and migration of males, and compare breakpoints in the evolution of mutations with ages of populations and historical events.! ! Any type of organism can be identied by examination of DNA sequences to identify individuals, forensic scientist perform DNA ngerprints which is when scientist scan about ten DNA regions that vary from person to

person and use the data to create a DNA prole of the individual. Plant and animal genomes allow us to create more disease resistant plants. This reduces the costs of agriculture and providing consumers with more nutritious, pesticides-free foods. Farmers have been able to increase outputs and reduce waste because their corps and herds are healthier.! ! Some of the legal, ethical and social issues concerns arising from the new genetics are the fairness in the use of genetic information by usurers; privacy and condentiality of genetic information; psychological impact and stigmatization due to individuals' genetic di"erences. Most people think that science is remote from the work they do, the lives they lead, and the decisions that they make day by day. The progress of science can potentially invade your life in the most direct ways, a"ecting the choices you make at the grocery store, your own health care and that of your family, and even your reproductive decisions.! ! The Human Genome Project (HGP) has created the eld of genomic understanding genetic material on a large scale. The medical industry is building upon the knowledge, resources, and technologies emanating from the HGP to further understanding of genetic contributions to human health. As a result of this expansion of genomic into human health treatment, the eld of genomic medicine has been born. Genetics is playing an increasingly important role in the diagnosis, monitoring, and treatment of diseases! ! ! ! ! ! ! ! ! ! ! ! !