Human Genome Project

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Francis S Collins - One of the best experts on this subject based on the ideXlab platform.

  • Human Genome Project twenty five years of big biology
    Nature, 2015
    Co-Authors: Eric D Green, James D Watson, Francis S Collins
    Abstract:

    The Human Genome Project, which launched a quarter of a century ago this week, still holds lessons for the consortium-based science it ushered in, say Eric D. Green, James D. Watson and Francis S. Collins.

  • the Human Genome Project lessons from large scale biology
    Science, 2003
    Co-Authors: Francis S Collins, Michael J Morgan, Aristides Patrinos
    Abstract:

    The Human Genome Project has been the first major foray of the biological and medical research communities into “big science.” In this Viewpoint, we present some of our experiences in organizing and managing such a complicated, publicly funded, international effort. We believe that many of the lessons we learned will be applicable to future large-scale Projects in biology.

  • implications of the Human Genome Project for medical science
    JAMA, 2001
    Co-Authors: Francis S Collins, Victor A Mckusick
    Abstract:

    The year 2000 marked both the start of the new millennium and the announcement that the vast majority of the Human Genome had been sequenced. Much work remains to understand how this “instruction book for Human biology” carries out its multitudes of functions. But the consequences for the practice of medicine are likely to be profound. Genetic prediction of individual risks of disease and responsiveness to drugs will reach the medical mainstream in the next decade or so. The development of designer drugs, based on a genomic approach to targeting molecular pathways that are disrupted in disease, will follow soon after. Potential misuses of genetic information, such as discrimination in obtaining health insurance and in the workplace, will need to be dealt with swiftly and effectively. Genomic medicine holds the ultimate promise of revolutionizing the diagnosis and treatment of many illnesses.

  • the Human Genome Project
    Cancer, 2001
    Co-Authors: Francis S Collins, Monique K Mansoura
    Abstract:

    The information derived from the Human Genome Project, an international effort to decode the information embedded in the Human Genome, will revolutionize the practice of medicine in the 21st century by providing the tools to determine the hereditary component of virtually all diseases. This will lead to improved approaches to predict increased risk, provide early detection, and promote more effective treatment strategies. To be ultimately successful, these improvements in research and health care must reach everyone. This success will depend on participation from a broad spectrum of the population. such as scientists, clinicians, research participants, and active discussants, in deliberations of ethics and public policy. The Human Genome Project has helped to inform us about how remarkably similar all Human beings are—99.9% at the DNA level. Those who wish to draw precise racial boundaries around certain groups will not be able to use science as a legitimate justification. However, studying the 0.1% of Human genetic variations, particularly the distribution of single nucleotide polymorphisms, between affected and nonaffected individuals will significantly inform biomedical researchers about the genetic contributions to complex diseases such as cancer, diabetes, and mental illness. We must all work together to ensure that the risks of such research are considered carefully and that the medical benefits are made available to all. Cancer 2001;91:221–225. © 2001 American Cancer Society.

  • the Human Genome Project revealing the shared inheritance of all Humankind
    Cancer, 2001
    Co-Authors: Francis S Collins, Monique K Mansoura
    Abstract:

    The information derived from the Human Genome Project, an international effort to decode the information embedded in the Human Genome, will revolutionize the practice of medicine in the 21st century by providing the tools to determine the hereditary component of virtually all diseases. This will lead to improved approaches to predict increased risk, provide early detection, and promote more effective treatment strategies. To be ultimately successful, these improvements in research and health care must reach everyone. This success will depend on participation from a broad spectrum of the population. such as scientists, clinicians, research participants, and active discussants, in deliberations of ethics and public policy. The Human Genome Project has helped to inform us about how remarkably similar all Human beings are--99.9% at the DNA level. Those who wish to draw precise racial boundaries around certain groups will not be able to use science as a legitimate justification. However, studying the 0.1% of Human genetic variations, particularly the distribution of single nucleotide polymorphisms, between affected and nonaffected individuals will significantly inform biomedical researchers about the genetic contributions to complex diseases such as cancer, diabetes, and mental illness. We must all work together to ensure that the risks of such research are considered carefully and that the medical benefits are made available to all.

Leroy Hood - One of the best experts on this subject based on the ideXlab platform.

  • The Human Genome Project: big science transforms biology and medicine
    Genome Medicine, 2013
    Co-Authors: Leroy Hood, Lee Rowen
    Abstract:

    The Human Genome Project has transformed biology through its integrated big science approach to deciphering a reference Human Genome sequence along with the complete sequences of key model organisms. The Project exemplifies the power, necessity and success of large, integrated, cross-disciplinary efforts - so-called ‘big science’ - directed towards complex major objectives. In this article, we discuss the ways in which this ambitious endeavor led to the development of novel technologies and analytical tools, and how it brought the expertise of engineers, computer scientists and mathematicians together with biologists. It established an open approach to data sharing and open-source software, thereby making the data resulting from the Project accessible to all. The Genome sequences of microbes, plants and animals have revolutionized many fields of science, including microbiology, virology, infectious disease and plant biology. Moreover, deeper knowledge of Human sequence variation has begun to alter the practice of medicine. The Human Genome Project has inspired subsequent large-scale data acquisition initiatives such as the International HapMap Project, 1000 Genomes, and The Cancer Genome Atlas, as well as the recently announced Human Brain Project and the emerging Human Proteome Project.

  • gaps in the Human Genome Project
    Nature, 1999
    Co-Authors: Jared C Roach, Andrew F Siegel, Ger Van Den Engh, Barbara J Trask, Leroy Hood
    Abstract:

    If the multinational Human Genome Project is to continue its successful start, sequencing strategies must be changed.

  • the code of codes scientific and social issues in the Human Genome Project
    Science and Engineering Ethics, 1992
    Co-Authors: Daniel J Kevles, Leroy Hood
    Abstract:

    Preface Part I History, Politics, and Genetics 1. Out of Eugenics: The Historical Politics of the Human Genome - Daniel J. Kevles 2. A History of the Science and Technology Behind Gene Mapping and Sequencing - Horace Freeland Judson Part II Genetics, Technology, and Medicine 3. A Vision of the Grail - Walter Gilbert 4. The Challenges to Technology and Informatics - Charles Cantor 5. DNA-Based Medicine: Prevention and Therapy - C. Thomas Caskey 6. Biology and Medicine in the Twenty-First Century - Leroy Hood 7 A Personal View of the Project - James D. Watson Part III Ethics, Law, And Society 8. The Social Power of Genetic Information - Dorothy Nelkin 9. DNA Fingerprinting: Science, Law, and the Ultimate Identifier - Eric Lander 10. Clairvoyance and Caution: Repercussions from the Human Genome Project - Nancy Wexler 11. Genetic Technology and Reproductive Choice: An Ethics for Autonomy - Ruth Schwartz Cowan 12. Health Insurance, Employment Discrimination, and the Genetics Revolution - Henry T. Greely 13. Nature, Nurture, and the Human Genome Project - Evelyn Fox Keller 14. Reflections - Daniel J. Kevles and Leroy Hood Notes Selected Bibliography Glossary Contributors Index

  • the Human Genome Project creating an infrastructure for biology and medicine
    Trends in Biochemical Sciences, 1991
    Co-Authors: T D Yager, D A Nickerson, Leroy Hood
    Abstract:

    The Human Genome Project (HGP) is an international effort to map and sequence the Human Genome. It combines skills from diverse fields of biological and technological research, thus establishing deeper interactions between scientific disciplines. The combination of these skills should stimulate many advances in both pure and applied fields of research and give rise to new, interdisciplinary training programs. Some critics say that the HGP will damage biomedical research; however, we argue that it will bring new funds to the field and create a large ripple effect by providing new research opportunities through its discoveries.

Ronald L Zimmern - One of the best experts on this subject based on the ideXlab platform.

H A E Zwart - One of the best experts on this subject based on the ideXlab platform.

  • understanding the Human Genome Project a biographical approach
    New Genetics and Society, 2008
    Co-Authors: H A E Zwart
    Abstract:

    This article analyzes a number of recently published autobiographies by leading participants in the Human Genome Project (HGP), in order to determine to what extent they may further our understanding of the history, scientific significance and societal impact of this major research endeavor. Notably, I will focus on three publications that fall under this heading, namely The common thread by John Sulston (2002/2003), The language of God (2006) by Francis Collins and A life decoded by Craig Venter (2007).1 What may we learn from these autobiographical sources about the dynamics of scientific change? What is their added value in understanding science in general and the HGP in particular? These questions will be elaborated in three directions: on the level of knowledge (epistemology), power (politics) and the Self (ethics). On the epistemological level, genomics is often presented as a paradigm shift in the life sciences, a tremendous up-scaling of research, an “informatization” of life. Autobiographies may ...

  • understanding the Human Genome Project a biographical approach
    Social Science Research Network, 2008
    Co-Authors: H A E Zwart
    Abstract:

    This article analyzes a number of recently published autobiographies by leading participants in the Human Genome Project (HGP), in order to determine to what extent they may further our understanding of the history, scientific significance and societal impact of this major research endeavor. Notably, I will focus on three publications that fall under this heading, namely The Common Thread by John Sulston (2002/2003), The Language of God (2006) by Francis Collins and A Life Decoded by Craig Venter (2007). What may we learn from these autobiographical sources about the dynamics of scientific change? What is their added value in understanding science in general and the HGP in particular? These questions will be elaborated in three directions: on the level of knowledge (epistemology), power (politics) and the Self (ethics). On the epistemological level, genomics is often presented as a paradigm shift in the life sciences, a tremendous up-scaling of research, an “informatization” of life. Autobiographies may reveal how this shift – usually discussed in more general terms from a philosophy of science or science studies perspective – manifests itself on an individual scale, on a microepistemological level. On the political level, autobiographies may inform us about the micro-politics of scientific change. Finally, on the level of Self, autobiographies may allow us to analyze how researchers, through practices of Self, are actively engaged in constituting themselves as responsible subjects in the face of unpredictable dynamics and unforeseen dilemmas.

Olufunmilayo I Olopade - One of the best experts on this subject based on the ideXlab platform.

  • the Human Genome Project and breast cancer
    Womens Health Issues, 1997
    Co-Authors: Olufunmilayo I Olopade
    Abstract:

    T he Human Genome Project (HGP) is likely to affect breast cancer in three major ways. First, by studying the normal function of all the genes in the Genome, the different genes involved in the development or progression of breast cancers will be identified. Second, simple molecular diagnostic tests for breast cancer will be developed. Third, better and more effective treatment targeting the genetic alterations in breast cancer may be developed. With the identification of BRCAl as the first gene that determines genetic susceptibility to breast cancer, genetic testing for breast cancer susceptibility is already a reality. lP3 The attention paid to this recent discovery by the news media and the conflicting and sometimes frightening information disseminated are already drawing many women to seek counseling regarding their risk for breast cancer and options for prevention. I will therefore focus this discussion on issues of genetic testing for breast cancer susceptibility. Breast cancer is second only to lung cancer as the leading cause of death for women. By the year 2000, it is estimated that 1.5 million new cases of breast cancer will be diagnosed annually worldwide. In the United States, there continues to be a 2% per year increase in the incidence of breast cancer.4,5 This perceived breast cancer “epidemic” is due partly to an absolute increase in the number of women at risk and lifestyle changes. For example, as many more baby boomers enter the ages when breast cancer is diagnosed, the absolute numbers of women diagnosed will increase, In addition, more breast cancers are diagnosed as the percentage of elderly women in the population increases because age is the most important risk factor for breast cancer. Lifestyle changes that may contribute to an increase in the rates of breast cancer include younger age at menarche (less than 12 y), later age at first full-term pregnancy, later age at menopause, and reduced breast feeding practices.6-8 As more women choose to develop a career before starting their families, the interval between menarche and first full-term pregnancy has been prolonged. Epidemiologic studies previously suggested that breast cancer risk increases the longer the interval between the age at menarche and the age at first full-term pregnancy, supporting the hypothesis that hormonal fluctuations related to o 1997 by me Jacobs mite monthly menstrual cycles play a role in breast carcinogenesis.6-s Unfortuof Women’s Health