There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.

This book examines the toxicological and health implications of environmental epigenetics and provides knowledge through an interdisciplinary approach. Included in this volume are chapters outlining various environmental risk factors such as phthalates and dietary components, life states such as pregnancy and ageing, hormonal and metabolic considerations and specific disease risks such as cancer cardiovascular diseases and other non-communicable diseases. Environmental Epigenetics imparts integrative knowledge of the science of epigenetics and the issues raised in environmental epidemiology. This book is intended to serve both as a reference compendium on environmental epigenetics for scientists in academia, industry and laboratories and as a textbook for graduate level environmental health courses. Environmental Epigenetics imparts integrative knowledge of the science of epigenetics and the issues raised in environmental epidemiology. This book is intended to serve both as a reference compendium on environmental epigenetics for scientists in academia, industry and laboratories and as a textbook for graduate level environmental health courses.

This book assesses the scientific value and merit of research on human genetic differencesâ€"including a collection of DNA samples that represents the whole of human genetic diversityâ€"and the ethical, organizational, and policy issues surrounding such research. Evaluating Human Genetic Diversity discusses the potential uses of such collection, such as providing insight into human evolution and origins and serving as a springboard for important medical research. It also addresses issues of confidentiality and individual privacy for participants in genetic diversity research studies.

Genome editing is a powerful new tool for making precise alterations to an organism's genetic material. Recent scientific advances have made genome editing more efficient, precise, and flexible than ever before. These advances have spurred an explosion of interest from around the globe in the possible ways in which genome editing can improve human health. The speed at which these technologies are being developed and applied has led many policymakers and stakeholders to express concern about whether appropriate systems are in place to govern these technologies and how and when the public should be engaged in these decisions. Human Genome Editing considers important questions about the human application of genome editing including: balancing potential benefits with unintended risks, governing the use of genome editing, incorporating societal values into clinical applications and policy decisions, and respecting the inevitable differences across nations and cultures that will shape how and whether to use these new technologies. This report proposes criteria for heritable germline editing, provides conclusions on the crucial need for public education and engagement, and presents 7 general principles for the governance of human genome editing.

Significant advances in our knowledge of genetics were made during the twentieth century but in the most recent decades, genetic research has dramatically increased its impact throughout society. Genetic issues are now playing a large role in health and public policy, and new knowledge in this field will continue to have significant implications for individuals and society. Written for the non-majors human genetics course, Human Genetics, Third Edition will increase the genetics knowledge of students who are learning about human genetics for the first time. This thorough revision of the best-selling Human Genome, Second Edition includes entirely new chapters on forensics, stem cell biology, bioinformatics, and societal/ethical issues associated with the field. New special features boxes make connections between human genetics and human health and disease. Carefully crafted pedagogy includes chapter-opening case studies that set the stage for each chapter; concept statements interspersed throughout the chapter that keep first-time students focused on key concepts; and end-of-chapter questions and critical thinking activities. This new edition will contribute to creating a genetically literate student population that understands basic biological research, understands elements of the personal and health implications of genetics, and participates effectively in public policy issues involving genetic information. - Includes topical material on forensics, disease studies, and the human genome project to engage non-specialist students - Full, 4-color illustration program enhances and reinforces key concepts and themes - Uniform organization of chapters includes interest boxes that focus on human health and disease, chapter-opening case studies, and concept statements to engage non-specialist readers

The success of individualized medicine, advanced crops, and new and sustainable energy sources requires thoroughly annotated genomic information and the integration of this information into a coherent model. A thorough overview of this field, Genome Annotation explores automated genome analysis and annotation from its origins to the challenges of next-generation sequencing data analysis. The book initially takes you through the last 16 years since the sequencing of the first complete microbial genome. It explains how current analysis strategies were developed, including sequencing strategies, statistical models, and early annotation systems. The authors then present visualization techniques for displaying integrated results as well as state-of-the-art annotation tools, including MAGPIE, Ensembl, Bluejay, and Galaxy. They also discuss the pipelines for the analysis and annotation of complex, next-generation DNA sequencing data. Each chapter includes references and pointers to relevant tools. As very few existing genome annotation pipelines are capable of dealing with the staggering amount of DNA sequence information, new strategies must be developed to accommodate the needs of today’s genome researchers. Covering this topic in detail, Genome Annotation provides you with the foundation and tools to tackle this challenging and evolving area. Suitable for both students new to the field and professionals who deal with genomic information in their work, the book offers two genome annotation systems on an accompanying CD-ROM.

"For a century, social scientists have avoided genetics like the plague. But in the past decade, a small but intrepid group of economists, political scientists, and sociologists have harnessed the genomics revolution to paint a more complete picture of human social life than ever before. The Genome Factor describes the latest astonishing discoveries being made at the scientific frontier where genomics and the social sciences intersect. The Genome Factor reveals that there are real genetic differences by racial ancestry--but ones that don't conform to what we call black, white, or Latino. Genes explain a significant share of who gets ahead in society and who does not, but instead of giving rise to a genotocracy, genes often act as engines of mobility that counter social disadvantage. An increasing number of us are marrying partners with similar education levels as ourselves, but genetically speaking, humans are mixing it up more than ever before with respect to mating and reproduction. These are just a few of the many findings presented in this illuminating and entertaining book, which also tackles controversial topics such as genetically personalized education and the future of reproduction in a world where more and more of us are taking advantage of cheap genotyping services like 23andMe to find out what our genes may hold in store for ourselves and our children. The Genome Factor shows how genomics is transforming the social sciences--and how social scientists are integrating both nature and nurture into a unified, comprehensive understanding of human behavior at both the individual and society-wide levels."--

The Human Genome Project has spawned a Renaissance of research faced with the daunting expectation of personalized medicine for individuals with sickle cell disease in the Genome Era. This book offers a comprehensive and timeless account of emerging concepts in clinical and basic science research, and community concerns of health disparity to educate professionals, students and the general public about meeting this challenging expectation. Contributions from physicians, research scientists, scientific administrators and community workers make Renaissance of Sickle Cell Disease Research in the Genome Era unique among the catalogue of books on this genetic disorder.Part 1 offers detailed review of the National Heart Lung and Blood Institute's leadership role in funding sickle cell research, as well as developing progressive research initiatives and the predicted impact of the Human Genome Project. Part 2 gives an account of several clinical research perspectives based on the Cooperative Study of Sickle Cell Disease. These include recommendations for newborn screening, pain management, stroke, transfusion therapy and pediatric and adult healthcare. Part 3 offers novel insights into basic science research progress and the impact of the Human Genome Project on the direction of hemoglobinopathy research, including hemoglobin switching, bone marrow transplantation and gene therapy. Part 4 engages the reader in a culture-based discussion of the stigma attached to sickle cell disease in the African American community and the apprehensions about genetic research in this community. It concludes with a global perspective on sickle cell disease from African, European and American experiences. For readers seeking a definitive account of sickle cell disease appropriate for students, researchers and community workers, this collaborative effort is an ideal textbook./a

This newly updated edition sheds light on the secrets of the sequence, highlighting the myriad ways in which genomics will impact human health for generations to come.

Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.