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    which is one of the primary goals of the human genome project? to cure all diseases that affect humans to sequence the genome of every living individual to identify the 20,000 to 25,000 genes that comprise the human genome to measure the length of human dna

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    The Human Genome Project

    The Human Genome Project is an ambitious research effort aimed at deciphering the chemical makeup of the entire human genetic code (i.e., the genome). The primary work of the project is to develop three research tools that will allow scientists to identify ...

    Alcohol Health Res World. 1995; 19(3): 190–195.

    PMCID: PMC6875757 PMID: 31798046

    The Human Genome Project

    Francis S. Collins, M.D., Ph.D. and Leslie Fink

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    Abstract

    The Human Genome Project is an ambitious research effort aimed at deciphering the chemical makeup of the entire human genetic code (i.e., the genome). The primary work of the project is to develop three research tools that will allow scientists to identify genes involved in both rare and common diseases. Another project priority is to examine the ethical, legal, and social implications of new genetic technologies and to educate the public about these issues. Although it has been in existence for less than 6 years, the Human Genome Project already has produced results that are permeating basic biological research and clinical medicine. For example, researchers have successfully mapped the mouse genome, and work is well under way to develop a genetic map of the rat, a useful model for studying complex disorders such as hypertension, diabetes, and alcoholism.

    Keywords: genome, genetic mapping, DNA, applied research, molecular genetics

    The Human Genome Project is an international research project whose primary mission is to decipher the chemical sequence of the complete human genetic material (i.e., the entire genome), identify all 50,000 to 100,000 genes contained within the genome, and provide research tools to analyze all this genetic information. This ambitious project is based on the fact that the isolation and analysis of the genetic material contained in the DNA1 (figure 1) can provide scientists with powerful new approaches to understanding the development of diseases and to creating new strategies for their prevention and treatment. Nearly all human medical conditions, except physical injuries, are related to changes (i.e., mutations) in the structure and function of DNA. These disorders include the 4,000 or so heritable “Mendelian” diseases that result from mutations in a single gene; complex and common disorders that arise from heritable alterations in multiple genes; and disorders, such as many cancers, that result from DNA mutations acquired during a person’s lifetime. (For more information on the genetics of alcoholism, see the articles by Goate, pp. 217–220, and Grisel and Crabbe, pp. 220–227.)

    Figure 1

    Artist’s rendering of the DNA molecule from a single cell.

    Although scientists have performed many of these tasks and experiments for decades, the Human Genome Project is unique and remarkable for the enormity of its effort. The human genome contains 3 billion DNA building blocks (i.e., nucleotides), enough to fill approximately one thousand 1,000-page telephone books if each nucleotide is represented by one letter. Given the size of the human genome, researchers must develop new methods for DNA analysis that can process large amounts of information quickly, cost-effectively, and accurately. These techniques will characterize DNA for family studies of disease, create genomic maps, determine the nucleotide sequence of genes and other large DNA fragments, identify genes, and enable extensive computer manipulations of genetic data.

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    Focus of the Human Genome Project

    The primary work of the Human Genome Project has been to produce three main research tools that will allow investigators to identify genes involved in normal biology as well as in both rare and common diseases. These tools are known as positional cloning (Collins 1992). These advanced techniques enable researchers to search for disease-linked genes directly in the genome without first having to identify the gene’s protein product or function. (See the article by Goate, pp. 217–220.) Since 1986, when researchers first found the gene for chronic granulomatous disease2 through positional cloning, this technique has led to the isolation of considerably more than 40 disease-linked genes and will allow the identification of many more genes in the future (table 1).

    Table 1

    Disease Genes Identifed Using Positional Cloning

    Year Disease

    1986 Chronic Granulomatous Disease

    Duchenne’s Muscular Dystrophy

    Retinoblastoma

    1989 Cystic Fibrosis

    1990 Wilms’ Tumor

    Neurofibromatosis Type 1

    Testis Determining Factor

    Choroideremia

    1991 Fragile X Syndrome

    Familial Polyposis Coli

    Kallmann’s Syndrome Aniridia

    1992 Myotonic Dystrophy

    Lowe’s Syndrome Norris’s Syndrome

    1993 Menkes’ Disease

    X-Linked A gammaglobulinemia

    Glycerol Kinase Deficiency

    Adrenoleukodystrophy

    Neurofibromatosis Type 2

    Huntington’s Disease

    von Hippel-Lindau Disease

    Spinocerebellar Ataxia I

    Lissencephaly Wilson’s Disease Tuberous Sclerosis

    1994 MacLeod’s Syndrome

    Polycystic Kidney Disease

    Dentatorubral Pallidoluysian Atrophy

    Fragile X “E” Achondroplasia

    Wiskott Aldrich Syndrome

    Early Onset Breast/Ovarian Cancer (BRCA 1)

    Diastrophic Dysplasia

    Aarskog-Scott Syndrome

    Congenital Adrenal Hypoplasia

    Emery-Dreifuss Muscular Dystrophy

    Source : www.ncbi.nlm.nih.gov

    About the Human Genome Project

    Learn the basics about the Human Genome Project --what it is; its progress, history, and goals; what issues are associated with genome research; frequently asked questions, the science behind the project; who its sponsors are.

    About the Human Genome Project

    About the Human Genome Project What was the Human Genome Project?

    Begun formally in 1990, the U.S. Human Genome Project was a 13-year effort coordinated by the U.S. Department of Energy (DOE) and the National Institutes of Health (NIH; http://www.genome.gov/). The project originally was planned to last 15 years, but rapid technological advances accelerated the completion date to 2003. Project goals

    identify all the approximately 20,000-25,000 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 studied 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 was the first large scientific undertaking to address potential ELSI implications arising from project data. DOE and NIH Genome Programs set aside 3% to 5% of their respective annual HGP budgets for the study of these issues. Nearly $1 million was spent on HGP ELSI research.

    Another important feature of the project was 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 catalyzed the multibillion-dollar U.S. biotechnology industry.

    For more background information on the U.S. Human Genome Project, see the following

    HGP Goals HGP Timeline Human Genome News

    How much did the Department of Energy and the National Institutes of Health spend on the Human Genome Project?

    U.S. Human Genome Project Funding

    ($Millions)

    FY DOE NIH* U.S. Total

    1988 10.7 17.2 27.9 1989 18.5 28.2 46.7 1990 27.2 59.5 86.7

    1991 47.4 87.4 134.8

    1992 59.4 104.8 164.2

    1993 63.0 106.1 169.1

    1994 63.3 127.0 190.3

    1995 68.7 153.8 222.5

    1996 73.9 169.3 243.2

    1997 77.9 188.9 266.8

    1998 85.5 218.3 303.8

    1999 89.9 225.7 315.6

    2000 88.9 271.7 360.6

    2001 86.4 308.4 394.8

    2002 90.1 346.7 434.3

    2003 64.2 372.8 437

    Note: These numbers do not include construction funds, which are a very small part of the budget.

    * For an explanation of the NIH budget, contact the Office of Human Genome Communications, National Human Genome Research Institute [https://www.genome.gov/], National Institutes of Health.

    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. The human genome, for example, has 3 billion pairs of bases.

    The particular order of As, Ts, Cs, and Gs is extremely important. The order underlies all of life's diversity, even dictating whether an organism is human or another species such as yeast, rice, or fruit fly, all of which have their own genomes and are themselves the focus of genome projects. Because all organisms are related through similarities in DNA sequences, insights gained from nonhuman genomes often lead to new knowledge about human biology.

    How many genes are in the human genome?

    The current consensus predicts about 20,500 genes, but this number has fluctuated a great deal since the project began.

    The reason for so much uncertainty has been that predictions are derived from different computational methods and gene-finding programs. Some programs detect genes by looking for distinct patterns that define where a gene begins and ends ("ab initio" gene finding). Other programs look for genes by comparing segments of sequence with those of known genes and proteins (comparative gene finding). While ab initio gene finding tends to overestimate gene numbers by counting any segment that looks like a gene, comparative gene finding tends to underestimate since it is limited to recognizing only those genes similar to what scientists have seen before. Defining a gene is problematic because small genes can be difficult to detect, one gene can code for several protein products, some genes code only for RNA, two genes can overlap, and many other complications (5).

    Even with improved genome analysis, computation alone is simply not enough to generate an accurate gene number. Clearly, gene predictions have to be verified by labor-intensive work in the laboratory (6).

    Here's a brief history of the changes in gene number over time. 2007: 20,500

    The 20,500 number of protein-coding genes was presented in a 2007 PNAS paper. Scientists arrived at this number by excluding the (now thought to be functionally meaningless, random occurrences) Open-Reading Frames (ORFs) that were included in the 2003 estimate of 24,500 genes. [M. Clamp et al., 2007. "Distinguishing Protein-Coding and Noncoding Genes in the Human Genome," PNAS 104(49), 19428-19433.]

    Source : web.ornl.gov

    Human Genome Project

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    Human Genome Project

    From Wikipedia, the free encyclopedia

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    Logo of the Human Genome Project

    The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both a physical and a functional standpoint.[1] It remains the world's largest collaborative biological project.[2] Planning started after the idea was picked up in 1984 by the US government, the project formally launched in 1990, and was declared essentially complete on April 14, 2003, but included only about 85% of the genome.[3] Level "complete genome" was achieved in May 2021, with a remaining only 0.3% bases covered by potential issues.[4][5] The missing Y chromosome was added in January 2022 in v2.0.[6]

    Funding came from the American government through the National Institutes of Health (NIH) as well as numerous other groups from around the world. A parallel project was conducted outside the government by the Celera Corporation, or Celera Genomics, which was formally launched in 1998. Most of the government-sponsored sequencing was performed in twenty universities and research centres in the United States, the United Kingdom, Japan, France, Germany, and China.[7]

    The Human Genome Project originally aimed to map the nucleotides contained in a human haploid reference genome (more than three billion). The "genome" of any given individual is unique; mapping the "human genome" involved sequencing a small number of individuals and then assembling to get a complete sequence for each chromosome. Therefore, the finished human genome is a mosaic, not representing any one individual. The utility of the project comes from the fact that the vast majority of the human genome is the same in all humans.

    Contents

    1 History

    2 State of completion

    3 Applications and proposed benefits

    4 Techniques and analysis

    4.1 Findings 4.2 Accomplishments

    5 Public vis-à-vis private approaches

    6 Genome donors 7 Developments

    8 Ethical, legal and social issues

    9 See also 10 References 11 Further reading 12 External links

    History[edit]

    The Human Genome Project was a 13-year-long publicly funded project initiated in 1990 with the objective of determining the DNA sequence of the entire euchromatic human genome within 15 years.[8][9]

    In May 1985, Robert Sinsheimer organized a workshop at the University of California, Santa Cruz, to discuss the feasibility of building a gene sequencing capability.[10] In March, the Santa Fe Workshop was organized by Charles DeLisi and David Smith of the Department of Energy's Office of Health and Environmental Research (OHER).[11] At the same time Renato Dulbecco, President of the Salk Institute for Biological Studies, proposed whole genome sequencing in an essay in .[12] The published work titled, "A Turning Point in Cancer Research: Sequencing the Human Genome" was shortened from the original proposal using the sequence to understand breast cancer genes.[13] James Watson followed two months later with a workshop held at the Cold Spring Harbor Laboratory. Thus the idea for obtaining a reference sequence had three independent origins: Sinsheimer, Dulbecco and DeLisi. Ultimately it was the actions by DeLisi that launched the project.[14][15][16][17]

    The fact that the Santa Fe workshop was motivated and supported by a Federal Agency opened a path, albeit a difficult and tortuous one,[18] for converting the idea into public policy in the United States. In a memo to the Assistant Secretary for Energy Research (Alvin Trivelpiece), Charles DeLisi, who was then Director of the OHER, outlined a broad plan for the project.[19] This started a long and complex chain of events which led to approved reprogramming of funds that enabled the OHER to launch the project in 1986, and to recommend the first line item for the HGP, which was in President Reagan's 1988 budget submission,[18] and ultimately approved by Congress. Of particular importance in congressional approval was the advocacy of New Mexico Senator Pete Domenici, whom DeLisi had befriended.[20] Domenici chaired the Senate Committee on Energy and Natural Resources, as well as the Budget Committee, both of which were key in the DOE budget process. Congress added a comparable amount to the NIH budget, thereby beginning official funding by both agencies.

    Alvin Trivelpiece sought and obtained the approval of DeLisi's proposal by Deputy Secretary William Flynn Martin. This chart[21] was used in the spring of 1986 by Trivelpiece, then Director of the Office of Energy Research in the Department of Energy, to brief Martin and Under Secretary Joseph Salgado regarding his intention to reprogram $4 million to initiate the project with the approval of Secretary Herrington. This reprogramming was followed by a line item budget of $16 million in the Reagan Administration's 1987 budget submission to Congress.[22] It subsequently passed both Houses. The project was planned for 15 years.[23]

    Source : en.wikipedia.org

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