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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.
The Logic of Chance offers a reappraisal and a new synthesis of theories, concepts, and hypotheses on the key aspects of the evolution of life on earth in light of comparative genomics and systems biology. The author presents many specific examples from systems and comparative genomic analysis to begin to build a new, much more detailed, complex, and realistic picture of evolution. The book examines a broad range of topics in evolutionary biology including the inadequacy of natural selection and adaptation as the only or even the main mode of evolution; the key role of horizontal gene transfer in evolution and the consequent overhaul of the Tree of Life concept; the central, underappreciated evolutionary importance of viruses; the origin of eukaryotes as a result of endosymbiosis; the concomitant origin of cells and viruses on the primordial earth; universal dependences between genomic and molecular-phenomic variables; and the evolving landscape of constraints that shape the evolution of genomes and molecular phenomes. "Koonin's account of viral and pre-eukaryotic evolution is undoubtedly up-to-date. His "mega views" of evolution (given what was said above) and his cosmological musings, on the other hand, are interesting reading." Summing Up: Recommended Reprinted with permission from CHOICE, copyright by the American Library Association.
Over 98% of the human genome contains non-coding DNA sequences. For many years molecular biologists referred to this component of the genome as the “junk” DNA since it does not code for any “useful” protein product. Over the last years this notion changed significantly as scientists discovered that a large part of this DNA contains various genomic elements that have important roles in cell physiology. Genomic elements such as non-coding RNAs, transposons, splicing RNAs, DNA repeats and others were shown to play a significant role in regulating gene expression. In addition, all these elements were implicated to contribute in the pathogenesis or progression of various human diseases. In this book, the editor will attempt to describe all these genomic elements that constitute the junk DNA of the genome. For every genomic element, the physiologic role in the organism, its role in evolution and any possible involvement in human diseases will be discussed. Additionally, interaction between these elements in normal or pathologic condition will be discussed. Since a large amount of new knowledge is generated daily in regards to these genomic elements, this book will attempt to combine all the information in a single publication that can serve as a reference for future studies. The first part will discuss RNA elements such as microRNAs, long non-coding RNAs, piRNAs and splicing RNAs. The second part of the book will deal with transposons, retrotransposons and DNA transposons. Finally the third part of the book will discuss DNA elements that include DNA repeats, conserved non-coding sequences, distal genomic elements, introns, pseudogenes, CpG islands and telomeres. For miRNAs and CNVs a separate chapter will be dedicated to their role in human diseases since an extensive amount of information exists about these two elements.
Genetics and Evolution of Infectious Diseases, Third Edition discusses the evolving field of infectious diseases and their continued impact on the health of populations, especially in resource-limited areas of the world where they must confront the dual burden of death and disability due to infectious and chronic illnesses. Although substantial gains have been made in public health interventions for the treatment, prevention, and control of infectious diseases, in recent decades the world has witnessed the emergence of the human immunodeficiency virus (HIV) and the COVID-19 pandemic, increasing antimicrobial resistance, and the emergence of many new bacterial, fungal, parasitic, and viral pathogens. Fully updated and revised, this new edition presents the consequences of such diseases, the evolution of infectious diseases, the genetics of host-pathogen relationship, and the control and prevention strategies that are, or can be, developed. This book offers valuable information to biomedical researchers, clinicians, public health practitioners, decisions-makers, and students and postgraduates studying infectious diseases, microbiology, medicine, and public health that is relevant to the control and prevention of neglected and emerging worldwide diseases. - Takes an integrated approach to infectious diseases - Provides the latest developments in the field of infectious diseases - Focuses on the contribution of evolutionary and genomic studies for the study and control of transmissible diseases - Includes updated and revised contributions from leading authorities, along with six new chapters
Humanity's physical design flaws have long been apparent--we get hemorrhoids and impacted wisdom teeth, for instance--but do the imperfections extend down to the level of our genes? Inside the Human Genome is the first book to examine the philosophical question of why, from the perspectives of biochemistry and molecular genetics, flaws exist in the biological world. Distinguished evolutionary geneticist John Avise offers a panoramic yet penetrating exploration of the many gross deficiencies in human DNA--ranging from mutational defects to built-in design faults--while at the same time offering a comprehensive treatment of recent findings about the human genome. The author shows that the overwhelming scientific evidence for genomic imperfection provides a compelling counterargument to intelligent design. He also develops a case that theologians should welcome rather than disavow these discoveries. The evolutionary sciences can help mainstream religions escape the shackles of Intelligent Design, and thereby return religion to its rightful realm--not as the secular interpreter of the biological minutiae of our physical existence, but rather as a respectable philosophical counselor on grander matters of ultimate concern.
Over the past century, we have made great strides in reducing rates of disease and enhancing people's general health. Public health measures such as sanitation, improved hygiene, and vaccines; reduced hazards in the workplace; new drugs and clinical procedures; and, more recently, a growing understanding of the human genome have each played a role in extending the duration and raising the quality of human life. But research conducted over the past few decades shows us that this progress, much of which was based on investigating one causative factor at a time—often, through a single discipline or by a narrow range of practitioners—can only go so far. Genes, Behavior, and the Social Environment examines a number of well-described gene-environment interactions, reviews the state of the science in researching such interactions, and recommends priorities not only for research itself but also for its workforce, resource, and infrastructural needs.
Technologies collectively called omics enable simultaneous measurement of an enormous number of biomolecules; for example, genomics investigates thousands of DNA sequences, and proteomics examines large numbers of proteins. Scientists are using these technologies to develop innovative tests to detect disease and to predict a patient's likelihood of responding to specific drugs. Following a recent case involving premature use of omics-based tests in cancer clinical trials at Duke University, the NCI requested that the IOM establish a committee to recommend ways to strengthen omics-based test development and evaluation. This report identifies best practices to enhance development, evaluation, and translation of omics-based tests while simultaneously reinforcing steps to ensure that these tests are appropriately assessed for scientific validity before they are used to guide patient treatment in clinical trials.
The Arthur M. Sackler Colloquia of the National Academy of Sciences address scientific topics of broad and current interest, cutting across the boundaries of traditional disciplines. Each year, four or five such colloquia are scheduled, typically two days in length and international in scope. Colloquia are organized by a member of the Academy, often with the assistance of an organizing committee, and feature presentations by leading scientists in the field and discussions with a hundred or more researchers with an interest in the topic. Colloquia presentations are recorded and posted on the National Academy of Sciences Sackler colloquia website and published on CD-ROM. These Colloquia are made possible by a generous gift from Mrs. Jill Sackler, in memory of her husband, Arthur M. Sackler.
A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.
In 2001, scientists were finally able to determine the full human genome sequence, and with the discovery began a genomic voyage back in time. Since then, we have sequenced the full genomes of a number of mankind's primate relatives at a remarkable rate. The genomes of the common chimpanzee (2005) and bonobo (2012), orangutan (2011), gorilla (2012), and macaque monkey (2007) have already been identified, and the determination of other primate genomes is well underway. Researchers are beginning to unravel our full genomic history, comparing it with closely related species to answer age-old questions about how and when we evolved. For the first time, we are finding our own ancestors in our genome and are thereby gleaning new information about our evolutionary past. In Ancestors in Our Genome, molecular anthropologist Eugene E. Harris presents us with a complete and up-to-date account of the evolution of the human genome and our species. Written from the perspective of population genetics, and in simple terms, the book traces human origins back to their source among our earliest human ancestors, and explains many of the most intriguing questions that genome scientists are currently working to answer. For example, what does the high level of discordance among the gene trees of humans and the African great apes tell us about our respective separations from our common ancestor? Was our separation from the apes fast or slow, and when and why did it occur? Where, when, and how did our modern species evolve? How do we search across genomes to find the genomic underpinnings of our large and complex brains and language abilities? How can we find the genomic bases for life at high altitudes, for lactose tolerance, resistance to disease, and for our different skin pigmentations? How and when did we interbreed with Neandertals and the recently discovered ancient Denisovans of Asia? Harris draws upon extensive experience researching primate evolution in order to deliver a lively and thorough history of human evolution. Ancestors in Our Genome is the most complete discussion of our current understanding of the human genome available.