The Human Genome

Book Description :

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, 3E 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,2E 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

Book Description :

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.

Book Description :

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.

Book Description :

How do you explain flaw in a world engineered by God? Avise extends this age-old question to the most basic aspect of humanity's physical evidence-- our genes-- and provides the evolutionary answers.

Book Description :

In the nearly 60 years since Watson and Crick proposed the double helical structure of DNA, the molecule of heredity, waves of discoveries have made genetics the most thrilling field in the sciences. The study of genes and genomics today explores all aspects of the life with relevance in the lab, in the doctor’s office, in the courtroom and even in social relationships. In this helpful guidebook, one of the most respected and accomplished human geneticists of our time communicates the importance of genes and genomics studies in all aspects of life. With the use of core concepts and the integration of extensive references, this book provides students and professionals alike with the most in-depth view of the current state of the science and its relevance across disciplines. Bridges the gap between basic human genetic understanding and one of the most promising avenues for advances in the diagnosis, prevention and treatment of human disease. Includes the latest information on diagnostic testing, population screening, predicting disease susceptibility, pharmacogenomics and more Explores ethical, legal, regulatory and economic aspects of genomics in medicine. Integrates historical (classical) genetics approach with the latest discoveries in structural and functional genomics

Book Description :

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.

Book Description :

This two-volume set provides a general overview of the evolution of the human genome; The first volume overviews the human genome with descriptions of important gene groups. This second volume provides up-to-date, concise yet ample knowledge on the genome evolution of modern humans. It comprises twelve chapters divided into two parts discussing “Non-neutral Evolution on Human Genes” (Part I) and “Evolution of Modern Human Populations” (Part II.) The most significant feature of this book is the continent-wise discussion of modern human dispersal using human genomic data in Part II. Recent results such as introgression of paleogenomes to modern humans, new methods such as computer simulation of global human dispersals, and new information on genes for humanness will be of particular interest to the readers. Since the euchromatin regions of the human genome was sequenced in 2003, a huge number of research papers were published on modern human evolution for a variety of populations. It is now time to summarize these achievements. This book stands out as the most comprehensive book on the modern human evolution, focusing on genomic points of view with a broad scope. Primary target audiences are researchers and graduate students in evolutionary biology.

Book Description :

Describes the ten-year, multimillion dollar Human Genome Project and its process of gene mapping; includes concerns of critics of the project.

Book Description :

Scientific Frontiers in Developmental Toxicology and Risk Assessment reviews advances made during the last 10-15 years in fields such as developmental biology, molecular biology, and genetics. It describes a novel approach for how these advances might be used in combination with existing methodologies to further the understanding of mechanisms of developmental toxicity, to improve the assessment of chemicals for their ability to cause developmental toxicity, and to improve risk assessment for developmental defects. For example, based on the recent advances, even the smallest, simplest laboratory animals such as the fruit fly, roundworm, and zebrafish might be able to serve as developmental toxicological models for human biological systems. Use of such organisms might allow for rapid and inexpensive testing of large numbers of chemicals for their potential to cause developmental toxicity; presently, there are little or no developmental toxicity data available for the majority of natural and manufactured chemicals in use. This new approach to developmental toxicology and risk assessment will require simultaneous research on several fronts by experts from multiple scientific disciplines, including developmental toxicologists, developmental biologists, geneticists, epidemiologists, and biostatisticians.

Book Description :

This second edition of a very successful text reflects the tremendous pace of human genetics research and the demands that it places on society to understand and absorb its basic implications. The human genome has now been officially mapped and the cloning of animals is becoming a commonplace scientific discussion on the evening news. Join authors Julia Richards and Scott Hawley as they examine the biological foundations of humanity, looking at the science behind the sensation and the current and potential impact of the study of the genome on our society. The Human Genome, Second Edition is ideal for students and non-professionals, but will also serve as a fitting guide for the novice geneticist by providing a scientific, humanistic, and ethical frame of reference for a more detailed study of genetics. New in this edition: · 60% new material, including data from the Human Genome Project and the latest genetics and ethics discussions · Several new case studies and personal stories that bring the concepts of genetics and heredity to life · Simplified treatment of material for non-biology majors · New full-color art throughout the text · New co-author, Julia Richards, joins R. Scott Hawley in this revision

Book Description :

“Ridley leaps from chromosome to chromosome in a handy summation of our ever increasing understanding of the roles that genes play in disease, behavior, sexual differences, and even intelligence. . . . . He addresses not only the ethical quandaries faced by contemporary scientists but the reductionist danger in equating inheritability with inevitability.” — The New Yorker The genome's been mapped. But what does it mean? Matt Ridley’s Genome is the book that explains it all: what it is, how it works, and what it portends for the future Arguably the most significant scientific discovery of the new century, the mapping of the twenty-three pairs of chromosomes that make up the human genome raises almost as many questions as it answers. Questions that will profoundly impact the way we think about disease, about longevity, and about free will. Questions that will affect the rest of your life. Genome offers extraordinary insight into the ramifications of this incredible breakthrough. By picking one newly discovered gene from each pair of chromosomes and telling its story, Matt Ridley recounts the history of our species and its ancestors from the dawn of life to the brink of future medicine. From Huntington's disease to cancer, from the applications of gene therapy to the horrors of eugenics, Ridley probes the scientific, philosophical, and moral issues arising as a result of the mapping of the genome. It will help you understand what this scientific milestone means for you, for your children, and for humankind.

Book Description :

This book provides a detailed evidence-based overview of the latest developments in how the structure of the human genome is relevant to the health professional. It features comprehensive reviews of genome science including human chromosomal and mitochondrial DNA structure, protein-coding and noncoding genes, and the diverse classes of repeat elements of the human genome. These concepts are then built upon to provide context as to how they functionally relate to differences in phenotypic traits that can be observed in human populations. Guidance is also provided on how this information can be applied by the medical practitioner in day-to-day clinical practice. Human Genome Structure, Function and Clinical Considerations collates the latest developments in genome science and current methods for genome analysis that are relevant for the clinician, researcher and scientist who utilises precision medicine techniques and is an essential resource for any such practitioner.

Book Description :

This book assesses the scientific value and merit of research on human genetic differences--including a collection of DNA samples that represents the whole of human genetic diversity--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.

Book Description :

The human genome is the complete set of nucleic acid sequence for humans (Homo sapiens), encoded as DNA within the 23chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. Human genomes include both protein-coding DNA genes and noncoding DNA. Haploid human genomes, which are contained in germ cells (the egg and spermgamete cells created in the meiosis phase of sexual reproduction before fertilization creates a zygote) consist of three billion DNAbase pairs, while diploid genomes (found in somatic cells) have twice the DNA content. While there are significant differences among the genomes of human individuals (on the order of 0.1%), these are considerably smaller than the differences between humans and their closest living relatives, the chimpanzees (approximately 4%) and bonobos. The Human Genome Project produced the first complete sequences of individual human genomes, with the first draft sequence and initial analysis being published on February 12, 2001. The human genome was the first of all vertebrates to be completely sequenced. As of 2012, thousands of human genomes have been completely sequenced, and many more have been mapped at lower levels of resolution. The resulting data are used worldwide in biomedical science, anthropology, forensics and other branches of science. There is a widely held expectation that genomic studies will lead to advances in the diagnosis and treatment of diseases, and to new insights in many fields of biology, including human evolution. There are an estimated 20,000-25,000 human protein-coding genes. The estimate of the number of human genes has been repeatedly revised down from initial predictions of 100,000 or more as genome sequence quality and gene finding methods have improved, and could continue to drop further. Protein-coding sequences account for only a very small fraction of the genome (approximately 1.5%), and the rest is associated with non-coding RNA molecules, regulatory DNA sequences, LINEs, SINEs, introns, and sequences for which as yet no function has been determined. The total length of the human genome is over 3 billion base pairs. The genome is organized into 22 paired chromosomes, plus the X chromosome (one in males, two in females) and, in males only, one Y chromosome. These are all large linear DNA molecules contained within the cell nucleus. The genome also includes the mitochondrial DNA, a comparatively small circular molecule present in each mitochondrion. Basic information about these molecules and their gene content, based on a reference genome that does not represent the sequence of any specific individual, are provided in the following table. This book is an excellent overview of the human genome, the genetics involved and DNA.

Book Description :

The human genome is a linear sequence of roughly 3 billion bases and information regarding this genome is accumulating at an astonishing rate. Inspired by these advances, The Human Genome in Health and Disease: A Story of Four Letters explores the intimate link between sequence information and biological function. A range of sequence-based functional units of the genome are discussed and illustrated with inherited disorders and cancer. In addition, the book considers valuable medical applications related to human genome sequencing, such as gene therapy methods and the identification of causative mutations in rare genetic disorders. The primary audiences of the book are students of genetics, biology, medicine, molecular biology and bioinformatics. Richly illustrated with review questions provided for each chapter, the book helps students without previous studies of genetics and molecular biology. It may also be of benefit for advanced non-academics, which in the era of personal genomics, want to learn more about their genome. Key selling features: Molecular sequence perspective, explaining the relationship between DNA sequence motifs and biological function Aids in understanding the functional impact of mutations and genetic variants Material presented at basic level, making it accessible to students without previous studies of genetics and molecular biology Richly illustrated with questions provided to each chapter

Book Description :

A unique exploration of the principles and methods underlying theHuman Genome Project and modern molecular genetics andbiotechnology-from two top researchers In Genomics, Charles R. Cantor, former director of the HumanGenome Project, and Cassandra L. Smith give the first integraloverview of the strategies and technologies behind the Human GenomeProject and the field of molecular genetics and biotechnology.Written with a range of readers in mind-from chemists andbiologists to computer scientists and engineers-the book beginswith a review of the basic properties of DNA and the chromosomesthat package it in cells. The authors describe the three maintechniques used in DNA analysis-hybridization, polymerase chainreaction, and electrophoresis-and present a complete exploration ofDNA mapping in its many different forms. By explaining both thetheoretical principles and practical foundations of modernmolecular genetics to a wide audience, the book brings thescientific community closer to the ultimate goal of understandingthe biological function of DNA. Genomics features: Topical organization within chapters for easy reference A discussion of the developing methods of sequencing, such assequencing by hybridization (SBH) in which data is read throughwords instead of letters Detailed explanations and critical evaluations of the manydifferent types of DNA maps that can be generated-includingcytogenic and restriction maps as well as interspecies cellhybrids Informed predictions for the future of DNA sequencing

Book Description :

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.

Book Description :

As the Human Genome Project completed its mapping of the entire human genome, hopes ran high that we would rapidly be able to use our knowledge of human genes to tackle many inherited diseases, and understand what makes us unique among animals. But things didn't turn out that way ... but the emerging picture is if anything far more exciting. Parrington gives an outline of the deeper genome, involving layers of regulatory elements controlling and coordinating the switching on and off of genes; the impact of its 3D geometry; the discovery of a variety of new RNAs playing critical roles; the epigenetic changes influenced by the environment and life experiences that can make identical twins different and be passed on to the next generation; and the clues coming out of comparisons with the genomes of Neanderthals as well as that of chimps about the development of our species.

Book Description :

This book reviews the human genome from an evolutionary perspective. No such book has ever been published before, although there are many books on human genomes. There are two parts in this book: Overview of the Human Genome (Part I) and The Human Genome Viewed through Genes (Part II). In Part I, after a brief review of human evolution and the human genome (by Naruya Saitou), chapters on rubbish or junk DNA (by Dan Graur), GC content heterogeneity (by Satoshi Oota), protein coding and RNA coding genes (by Tadashi Imanishi), duplicated genes (by Takashi Kitano), recombinations (by Montanucci and Bertranpetit), and copy number variations including microsatellites (by Naoko Takezaki) are discussed. Readers can obtain various new insights on the human genome from this part. In Part II, genes in X and Y chromosomes (by Yoko Satta and others), HLA genes (by Timothy A. Jinam), opsin genes (by Shoji Kawamura and Amanda D. Melin), genes related to phenotypic variations (by Ryosuke Kimura), transcription factors (by Mahoko Takahashi and So Nakagawa), diabetes-related genes (by Ituro Inoue), disease genes in general (by Ituro Inoue and Hirofumi Nakaoka), and microbial genomes (by Chaochun Wei) are discussed. The human genome sequences were determined in 2004, and after more than 10 years we are now beginning to understand the human genome from an evolutionary point of view. This book furnishes readers with a good summary of current research in the field.

Book Description :

Jean Buttigieg demonstrates the necessity to make it a legal principle of international law that the human genome is a common heritage of mankind. The patent system encourages the commercialization of the human genome, effectively hindering discoversies that prompt new and better medical treatments. The true essence of the human genome, Buttigieg argues, is to be found in metaphysics and not biology, discussing philosophical concerns surrounding the field of biotechnology.