The genomic approach of technology development and large-scale generation of community resource data sets has introduced an important new dimension in biological and biomedical research. Interwoven advances in genetics, comparative genomics, high throughput biochemistry and bioinformatics are combining to attack basic understanding of human life and disease and to develop strategies to combat disease. Genomic Research began with The Human Genome Project (HGP), the international research effort that determined the DNA sequence of the entire human genome, completed in April 2003. The HGP also included efforts to characterize and sequence the entire genomes of several other organisms, many of which are used extensively in biological research. Identification of the sequence or function of genes in a model organism is an important approach to finding and elucidating the function of human genes. Integral to the HGP are similar efforts to understand the genomes of various organisms commonly used in biomedical research, such as mice, fruit flies and roundworms. Such organisms are called "model organisms," because they can often serve as research models for how the human organism behaves. This new book brings together leading research from throughout the world in this cutting-edge field.
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
The human genome is like a cookbook. The genes within it are recipes for the proteins that build the body and keep it running. This fascinating journey into the microscopic mechanisms of the human body enlightens readers about the fundamentals of genetics, including how inherited genes express themselves and how they’re passed down through generations. The accessible text has a particular focus on genetic diseases and the breakthrough technologies that are giving people hope for cures. Future geneticists will especially appreciate learning what the Human Genome Project revealed about our DNA as well as about the advances in genomic research that it accelerated.
The second edition of this book adds eight new contributors to reflect a modern cutting edge approach to genomics. It contains the newest research results on genomic analysis and modeling using state-of-the-art methods from engineering, statistics, and genomics. These tools and models are then applied to real biological and clinical problems. The book’s original seventeen chapters are also updated to provide new initiatives and directions.
Online genetic testing services are increasingly being offered to consumers who are becoming exposed to, and knowledgeable about, new kinds of genetic technologies, as the launch of a 23andme genetic testing product in the UK testifies. Genetic research breakthroughs, cheek swabbing forensic pathologists and celebrities discovering their ancestral roots are littered throughout the North American, European and Australasian media landscapes. Genetic testing is now capturing the attention, and imagination, of hundreds of thousands of people who can not only buy genetic tests online, but can also go online to find relatives, share their results with strangers, sign up for personal DNA-based musical scores, and take part in research. This book critically examines this market of direct-to-consumer (DTC) genetic testing from a social science perspective, asking, what happens when genetics goes online? With a focus on genetic testing for disease, the book is about the new social arrangements which emerge when a traditionally clinical practice (genetic testing) is taken into new spaces (the internet). It examines the intersections of new genetics and new media by drawing from three different fields: internet studies; the sociology of health; and science and technology studies. While there has been a surge of research activity concerning DTC genetic testing, particularly in sociology, ethics and law, this is the first scholarly monograph on the topic, and the first book which brings together the social study of genetics and the social study of digital technologies. This book thus not only offers a new overview of this field, but also offers a unique contribution by attending to the digital, and by drawing upon empirical examples from our own research of DTC genetic testing websites (using online methods) and in-depth interviews in the United Kingdom with people using healthcare services.
Antisense molecules interact with complementary strands of nucleic acids, modifying expression of genes. Some regions within a double strand of DNA code for genes, which are usually instructions specifying the order of amino acids in a protein along with regulatory sequences, splicing sites, non-coding introns and other complicating details. For a cell to use this information, one strand of the DNA serves as a template for the synthesis of a complementary strand of RNA. The template DNA strand is called the transcribed strand with antisense sequence and the mRNA transcript is said to be sense sequence (the complement of antisense). Because the DNA is double-stranded, the strand complementary to the antisense sequence is called non-transcribed strand and has the same sense sequence as the mRNA transcript (though T bases in DNA are substituted with U bases in RNA). This book presents important new research from around the world in this field.
Gene tests (also called DNA-based tests), the newest and most sophisticated of the techniques used to test for genetic disorders, involve direct examination of the DNA molecule itself. Other genetic tests include biochemical tests for such gene products as enzymes and other proteins and for microscopic examination of stained or fluorescent chromosomes. Genetic tests are used for several reasons, including: Carrier screening, which involves identifying unaffected individuals who carry one copy of a gene for a disease that requires two copies for the disease to be expressed; Preimplantation genetic diagnosis prenatal diagnostic testing new-born screening; Presymptomatic testing for predicting adult-onset disorders such as Huntington's disease; Presymptomatic testing for estimating the risk of developing adult-onset cancers and Alzheimer's disease; and Confirmational diagnosis of a symptomatic individual forensic/identity testing. In gene tests, scientists scan a patient's DNA sample for mutated sequences. A DNA sample can be obtained from any tissue, including blood. probes, whose sequences are complementary to the mutated sequences. These probes will seek their complement among the three billion base pairs of an individual's genome. If the mutated sequence is present in the patient's genome, the probe will bind to it and flag the mutation. Another type of DNA testing involves comparing the sequence of DNA bases in a patient's gene to a normal version of the gene. This book gathers important research in this field.
Molecular Diagnostics, Third Edition, focuses on the technologies and applications that professionals need to work in, develop, and manage a clinical diagnostic laboratory. Each chapter contains an expert introduction to each subject that is next to technical details and many applications for molecular genetic testing that can be found in comprehensive reference lists at the end of each chapter. Contents are divided into three parts, technologies, application of those technologies, and related issues. The first part is dedicated to the battery of the most widely used molecular pathology techniques. New chapters have been added, including the various new technologies involved in next-generation sequencing (mutation detection, gene expression, etc.), mass spectrometry, and protein-specific methodologies. All revised chapters have been completely updated, to include not only technology innovations, but also novel diagnostic applications. As with previous editions, each of the chapters in this section includes a brief description of the technique followed by examples from the area of expertise from the selected contributor. The second part of the book attempts to integrate previously analyzed technologies into the different aspects of molecular diagnostics, such as identification of genetically modified organisms, stem cells, pharmacogenomics, modern forensic science, molecular microbiology, and genetic diagnosis. Part three focuses on various everyday issues in a diagnostic laboratory, from genetic counseling and related ethical and psychological issues, to safety and quality management. Presents a comprehensive account of all new technologies and applications used in clinical diagnostic laboratories Explores a wide range of molecular-based tests that are available to assess DNA variation and changes in gene expression Offers clear translational presentations by the top molecular pathologists, clinical chemists, and molecular geneticists in the field
Increasingly, genomic-based approaches and resources are redefining our categorization of disease, leading to new approaches to prevention and therapy. As nurses traditionally practice patient-oriented care, they will undoubtedly play a key role in both developing and applying the aspects of genomic health care. Nursing Care in the Genomic Era: A Case Based Approach is designed to provide nurses with up-to-date and accessible information on this powerful new approach to understanding, preventing, and treating disease.
Pan-genomics: Applications, Challenges, and Future Prospects covers current approaches, challenges and future prospects of pan-genomics. The book discusses bioinformatics tools and their applications and focuses on bacterial comparative genomics in order to leverage the development of precise drugs and treatments for specific organisms. The book is divided into three sections: the first, an "overview of pan-genomics and common approaches, brings the main concepts and current approaches on pan-genomics research; the second, “case studies in pan-genomics, thoroughly discusses twelve case, and the last, “current approaches and future prospects in pan-multiomics , encompasses the developments on omics studies to be applied on bacteria related studies. This book is a valuable source for bioinformaticians, genomics researchers and several members of biomedical field interested in understanding further bacterial organisms and their relationship to human health. Covers the entire spectrum of pangenomics, highlighting the use of specific approaches, case studies and future perspectives Discusses current bioinformatics tools and strategies for exploiting pangenomics data Presents twelve case studies with different organisms in order to provide the audience with real examples of pangenomics applicability
The biological world operates on a multitude of scales - from molecules to cells to tissues to organisms to ecosystems. Throughout all these levels runs a common thread: the communication and onward passage of information - from cell to cell, from organism to organism and, ultimately, from generation to generation. This information is stored, at the most fundamental level, in each living cell in our body. But how does this information - no more than a static repository of data - come alive to govern the processes that constitute life? The answer lies in the concerted action of molecular components which cooperate in a series of ingenious processes to bring the information deposited in each of us, in our genome, to life. These components and processes lie at the heart of one of the most endlessly fascinating subjects to engage the minds of scientists today: molecular biology. Molecular Biology: Principles of Genome Function offers a fresh, distinctive approach to the teaching of molecular biology. It is an approach that reflects the challenge of teaching a subject that is in many ways unrecognizable from the molecular biology of the 20th century - a discipline in which our understanding has advanced immeasurably, but about which many intriguing questions remain to be answered. It is written with several guiding themes in mind: * A focus on key principles, rather than an attempt to offer exhaustive detail, provides a robust conceptual framework on which students can build a solid understanding of the discipline; * An emphasis on the commonalities that exist between the three kingdoms of life, and the discussion of differences between the three kingdoms where such differences offer instructive insights into molecular processes and components, gives students an accurate depiction of our current understanding of the conserved nature of molecular biology, and the differences that underpin biological diversity; * An integrated approach demonstrates how certain molecular phenomena have diverse impacts on genome function by presenting them as themes that recur throughout the book, rather than as artificially separated topics. At heart, molecular biology is an experimental science, and a central element to the understanding of molecular biology is an appreciation of the approaches taken to yield the information from which concepts and principles are deduced. However, a mass of experimental evidence can make the grasping of the central ideas and paradigms that the experimental evidence has allowed us to elucidate more difficult. Molecular Biology responds to this challenge by complementing its coverage of key concepts in the main body of the text with separate Experimental Approach panels, which branch off from the text in a clearly-signposted way. These Experimental Approach panels describe pieces of research that have been undertaken, and which have been particularly valuable in elucidating difference aspects of molecularbiology. Beyond this, Molecular Biology further enriches the learning experience with full-colour, custom-drawn artwork; end-of-chapter summaries; relevant suggested further readings grouped by topic; and an extensive glossary of key terms. Among the students being taught today are the molecular biologists of tomorrow; these individuals will be in a position to ask fascinating questions about fields whose complexity and sophistication become more apparent with each year that passes. Molecular Biology: Principles of Genome Function is the perfect introduction to this challenging, dynamic, but ultimately fascinating discipline. The Online Resource Centre to accompany Molecular Biology: Principles of Genome Function features For registered adopters of the text: Electronic artwork: Figures from the book are available to download, for use in lectures. Journal Club: Suggested research papers and discussion questions linked to topics featured in the book build on the Experimental Approach panels in the book itself, to guide the process of assimilating knowledge from the research literature For everyone: New and noteworthy: A note of key highlights from the field of molecular biology since the book's publication are updated for the start of each semester. Library of molecular structures: A library of three-dimensional models of key molecular structures featured in the book allow students to investigate these molecular components in more detail.
