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Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment
by Aubrey MilunskyGenetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, Eighth Edition is the eagerly awaited new edition of the discipline-leading work that has been at the forefront of diagnosis, prevention, and treatment of fetal genetic disorders for over 36 years. This timely update builds on the foundations of preconception and prenatal genetic counseling and the original pillars of prenatal diagnosis while also providing authoritative coverage of exciting developments in non-invasive genetic testing and rapidly developing molecular techniques. Chapters are once again authored by internationally recognized authorities in the field of prenatal diagnosis. The editors have brought together an invaluable collection of evidence-based facts bolstered by knowledge and decades of experience in the field.
Genetic Disorders and the Fetus
by Aubrey Milunsky Jeff M. MilunskyProfessor Milunsky's book has been at the forefront of this field for over 30 years, in sixeditions. The new edition will continue to be written by internationally recognized authorities in the field. The contents will be updated to include the major changes afoot in the cytogenetics of prenatal diagnosis where chromosomal microarray has taken hold and is likely to seriously replace routine chromosome analysis. This aspect, enormous advances in prenatal molecular diagnosis, advances in preimplantation diagnosis and non-invasive prenatal diagnosis via circulating fetal DNA and RNA in mother's blood, will feature prominently in the next edition.
Genetic Disorders and the Fetus
by Jeff Milunsky Aubrey MilunskyHighly Commended in the Obstetrics and Gynaecology category of the 2010 BMA Medical Book CompetitionBrand new edition of the world's leading text on prenatal diagnosisThis 6th Edition of Genetic Disorders and the Fetus maintains it's pre-eminence as the major repository of facts about prenatal diagnosis. It provides a critical analysis and synthesis of established and new knowledge based on the long experience of authorities in their respective fields. A broad international perspective is presented through authoritative contributions from authors in 11 countries. All chapters and guidelines have been updated to reflect contemporary practice. New chapters have been introduced on:The use of chromosomal microarrays in prenatal diagnosisThe social, legal and public policy issues with special reference to international approachesThe important peroxisomal and related fatty acid oxidation disordersExtensive tables and clear illustrations assist in differential diagnosis, gene identification and diagnostic modes. The recognition of many new and unresolved challenges should provide inspiration for novel research initiatives. The guidance provided and the insights and perspectives of these authors make this volume a valuable and indispensable resource for all whose focus is securing fetal health through prenatal diagnosis.Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment is an essential resource for all engaged in prenatal genetic diagnosis, especially obstetricians, maternal-fetal medicine specialists, medical geneticists, genetic counsellors, and pediatricians, but also many other specialties.
Genetic Engineering: A Primer
by Walter E. HillGenetic Engineering: A Primer presents the growing field of biotechnology to non-science majors and other general interest readers. The author examines the natural forces that change genetic information and the ways in which scientists have learned to engineer these genetic changes. With a wealth of information flooding the popular press, including
Genetic Engineering: Reading, Writing and Editing Genes (essentials)
by Röbbe WünschiersThis essential should serve as an introduction for a contemporary public discussion on genetic engineering. Genetic engineering affects us all in many areas and we must dare to think more colorful and further. In fact, the complete genetic material of viruses and bacteria can already be chemically produced and "brought to life". With genetic surgery, medicine is at a crossroads: do we want to treat hereditary diseases or "repair" them genetically? And the analysis of thousands of human genetic material reveals information that is related to complex diseases, but also to characteristics such as intelligence. How should we use this knowledge? The question is hardly whether we want genetic engineering, but rather how we use it.This Springer essential is a translation of the original German 1st edition essentials, Gentechnik by Röbbe Wünschiers, published by The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Fachmedien Wiesbaden GmbH, part of Springer Nature in 2019. The translation was done with the help of artificial intelligence (machine translation by the service DeepL.com). A subsequent human revision was done primarily in terms of content, so that the book will read stylistically differently from a conventional translation. Springer Nature works continuously to further the development of tools for the production of books and on the related technologies to support the authors.
Genetic Engineering Fundamentals: An Introduction to Principles and Applications
by John KammermeyerThis important reference/text provides technologists with the basic informationnecessary to interact scientifically with molecular biologists and get involved in scalinguplaboratory procedures and designing and constructing commercial plants.Requiring no previous training or experience in biology, Genetic EngineeringFundamentals explains the biological and chemical principles of recombinant DNAtechnology ... emphasizes techniques used to isolate and clone specific genes frombacteria, plants, and animals, and methods of scaling-up the formation of the geneproduct for commercial applications ... analyzes problems encountered in scaling-upthe microprocessing of biochemical procedures . .. includes an extensive glossary andnumerous illustrations ... identifies other resource materials in the field ... and more.Presenting the fundamentals of biochemistry and molecular biology to workers andstudents in other fields, this state-of-the-art reference/text is essentiai reading fortechnologists in chemistry and engineering; biomedical, chemical, electrical andelectronics, industrial, mechanical, manufacturing, design, plant, control, civil, genetic,and environmental engineers; chemists, botanists, and zoologists; and advancedundergraduate and graduate courses in engineering, biotechnology, and industrialmicrobiology.
Genetic Epidemiology
by Terri Beaty Muin Khoury W Dotson Ruth Ottman Stephanie Fullerton Deborah Nickerson Janet Stanford Bruce Psaty Melissa A Austin Marta Gwinn John Stamatoyannopolous Kelly Edwards Barbara Mcknight Stephen Schwartz Timothy ThorntonGenetic epidemiology plays a key role in discovering genetic factors influencing health and disease, and in understanding how genes and environmental risk factors interact. There is growing interest in this field within public health, with the goal of translating the results into promoting health and preventing disease in both families and populations. This textbook provides graduate students with a working knowledge of genetic epidemiology research methods. Following an overview of the field, the book reviews key genetic concepts, provides an update on relevant genomic technology, including genome-wide chips and DNA sequencing, and describes methods for assessing the magnitude of genetic influences on diseases and risk factors. The book focuses on research study designs for discovering disease susceptibility genes, including family-based linkage analysis, candidate gene and genome-side association studies, assessing gene-environment interactions and epistasis, studies of Non-Mendelian inheritance, and statistical analyses of data from these studies. Specific applications of each research method are illustrated using a variety of diseases and risk factors relevant to public health, and useful web-based genetic analysis software, human reference panels, and repositories, that can greatly facilitate this work, are described. Concluding with a review of ethical issues and a framework for translating human genomics research to clinical practice and public health benefit, this textbook is an essential new resource for graduate students in epidemiology and public health genetics.
Genetic Epidemiology: Methods and Protocols (Methods in Molecular Biology #1793)
by Evangelos EvangelouThis volume details fast-moving research while providing in-depth descriptions of methods and analytical approaches that are helping to understand the genome and how it is related to complex diseases. Chapters guide the reader through common and rare variation, gene-gene and gene-environment interactions and state-of-the-art approaches for the synthesis of genome-wide and gene expression data. Novel approaches for associations in the HLA region, family-based designs, Mendelian Randomization and Copy Number Variation are also presented. The volume concludes with the challenges researchers face while moving from identifying variants to their functional role and potential drug targets. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, a thorough presentation of methods and approaches and tips on troubleshooting and avoiding known pitfalls.
Genetic Epidemiology
by M. Dawn TeareArising from firm foundations laid by mathematical population genetics, clinical genetics, and statistical epidemiology, genetic epidemiology attempts to identify the many components of risk attributable to genes, environments, and interactions, and the course of its research can follow many diverse paths. In Genetic Epidemiology, the success of genome-wide association studies in their identification of hundreds of disease susceptibility loci has inspired renowned experts to contribute thorough methodologies, which aim to bring together bioinformaticians, geneticists, clinicians, statisticians, and epidemiologists in the study of this vital field. The volume opens with chapters covering the basics; however, it quickly moves on to coverage of more specialist topics such as twin studies, Mendelian randomization, genetic association studies, more advanced areas, as well as case studies. As a part of the highly successful Methods in Molecular BiologyTM series, this work provides the detailed description of the application and analysis of the most commonly employed methods that are necessary for a firm grounding in the field. Authoritative and cutting-edge, Genetic Epidemiology aims to provide a basic framework for crucial interdisciplinary communication and understanding suited to newcomers to the field as well as experienced researchers and graduate level students.
Genetic Governance: Health, Risk and Ethics in a Biotech Era
by Robin Bunton Alan PetersenEthical and practical issues around genetic research are of major international concern, both in academia and in the public domain. Questions concerning what interventions are possible and appropriate with the increasing amount of genetic information available, challenge our understandings of ourselves, our health and wellbeing, and the role of medical ethics, public health, surveillance and risk. However there has been little reflection on the socio-political effects of this new genetic knowledge and the changes in practice that are currently impacting on our lives.Containing contributions from key international researchers, this book examines the broader issues of genetic debates and looks at how prediction and risk assessment is being changed in the arenas of health, medicine and reproduction, bringing new insight on the dangers of surveillance, regulation and increased inequality. Developed out of the Taylor and Francis journal Critical Public Health, the book considers the implications of developments in genetics for contemporary liberal governance, as well as for the future of healthcare and public health.
Genetic Hearing Loss
by Patrick J. WillemsHeredity, either alone or in combination with environmental factors, is the most prominent underlying cause of hearing impairment. Thanks in large part to positional cloning techniques, scientists have identified nearly 100 gene loci implicated in hearing loss since 1995-an extraordinarily rapid rate of gene identification. Genetic Hearing Loss
Genetic Improvement of Farmed Animals
by Geoff Simm Dr Geoff Pollott Raphael A Mrode Professor Ross Houston Dr Karen MarshallGenetic Improvement of Farmed Animals provides a thorough grounding in the basic sciences underpinning farmed animal breeding. Relating science to practical application, it covers all the major farmed animal species: cattle, sheep, goats, poultry, pigs and aquaculture species. The book: - Provides comprehensive coverage - from fundamental genetics, analysis of variation, prediction of breeding values and response to selection, through to application of modern genomics and biotechnology. - Illustrates the practical application of theory in temperate and tropical systems. - Outlines current practice and explores future directions, including sustainability and ethical implications, to leave readers completely up to date. Based on the previous bestseller, Genetic Improvement of Cattle and Sheep, this book has been completely revised, expanded and redesigned to be an essential textbook for undergraduate, masters and other early postgraduate-level students in agriculture, animal and veterinary science, as well as breeders, farmers, industry technical staff, advisors and extension workers.
Genetic Mapping and Marker Assisted Selection: Basics, Practice and Benefits
by N. Manikanda BoopathiThe first edition of this book, Genetic Mapping and Marker Assisted Selection: Basics, Practice and Benefits, was widely appreciated as the first of its kind on this topic and has been listed as a reference work in several agricultural universities’ curricula. A great deal has happened over the last five years, making it high time to incorporate recent developments in genetic mapping and report on novel strategies in marker assisted selection in crop plants as a second edition. This book addresses a range of topics, including: new marker types and their genotyping methods based on high-throughput technologies, advances in genomics and their role in new marker development, improvements in genetic mapping strategies and software updates, developments in phenomics and their applications in QTL mapping, and how to incorporate these developments and advances in marker assisted selection in crop plants. Similar to the first edition, each technique and method is explained using a step-by-step method, allowing the book to serve as a self-study guide for scholars whose work involves the genetic improvement of crop plants for any trait of interest, particularly for biotic and abiotic stress resistance.In addition, the book offers a valuable guide for undergraduate and graduate students at agricultural universities and institutes that are interested and/or involved in the genetic improvement of crop plants using modern tools. In addition, the bibliography includes a list of suggested works for pursuing further research on the topics covered.
Genetic Medicine: A Logic of Disease
by Barton ChildsIn Genetic Medicine: A Logic of Disease, Barton Childs demonstrates that knowledge of the ways both genes and environment contribute to disease provides a rational basis for medical thinking. This "genetic" medicine, he explains, should help the physician use the results of laboratory tests to perceive the uniqueness of the patient as well as that of the family and the cultural conditions in which the patient's condition arose. Childs thus provides a conceptual framework within which to teach and practice a humane medicine.
Genetic Modification of Hematopoietic Stem Cells
by Christopher BaumWith the incredible potential of gene transfer into hematopoietic stem cells, active research in this field has become critically important. In "Genetic Modification of Hematopoietic Stem Cells: Methods and Protocols", leading scientists in the field provide a compendium of protocols which cover the subject comprehensively, from the purification and culture of various types of hematopoietic cells for subsequent genetic modification by vector development and technical issues of small and large scale vector production, to the complex issue of monitoring and biosafety studies related to gene-modified hematopoiesis. Written in the highly successful Methods in Molecular BiologyTM series format, the chapters in this volume present brief introductions to the topic, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and Notes sections, which allow the experts to highlight tips on troubleshooting and avoiding known pitfalls. Unique and cutting-edge, "Genetic Modification of Hematopoietic Stem Cells: Methods and Protocols" is an ideal, thorough resource to promote further research and the implementation of investigator-driven clinical studies using gene-modified hematopoietic cells.
Genetic Nature / Culture: Anthropology and Science Beyond the Two-Culture Divide
by Alan H. Goodman Deborah Heath M. Susan LindeeThis volume of original scholarship focuses on how anthropology is affected by and should respond to the wide range of issues associated with the culture and practice of genetics.
Genetic Neuromuscular Disorders
by Corrado AngeliniThis book describes the genetic diagnostic entities of neuromuscular disorders. Each neuromuscular syndrome is presented clinically as a case study, accompanied by text reviewing different molecular defects, DNA research and differential diagnosis. This collection of neuromuscular disorders features the different clinical phenotypes related to each genotype and are representative of the whole spectrum of a genetic muscle disorder, helping the clinician and neuromuscular physician to make a diagnosis. Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents.
Genetic Neuromuscular Disorders
by Corrado AngeliniThis book describes the genetic diagnostic entities of neuromuscular disorders. Each neuromuscular syndrome is presented clinically as a case study, accompanied by text reviewing different molecular defects, DNA research and differential diagnosis. This collection of neuromuscular disorders features the different clinical phenotypes related to each genotype and are representative of the whole spectrum of a genetic muscle disorder, helping the clinician and neuromuscular physician to make a diagnosis. Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents.
Genetic Polymorphism and cancer susceptibility
by Aga Syed Sameer Mujeeb Zafar Banday Saniya NissarThis book discusses the role of genetic polymorphism in susceptibility to cancers. The book explores the understanding of differences between the genetic polymorphisms and mutations.It reviews the mechanisms underlying the effect of polymorphism in genes encoding proteins that play an essential role in metabolism, signal transduction, cell cycle, and DNA repair mechanisms. Further, it investigates various techniques that are used for analyzing the genetic polymorphisms. The book contains many chapters which summarize the importance of genetic information obtained from polymorphism-based pharmaco-genetic tests to predict better drug response and life-threatening adverse reactions to chemotherapeutic agents, help in understanding of the impact of SNPs on gene function, and gives overview of the different SNP databases for examination. This book, therefore, serves as an essential guidebook for independent researchers as well as institutions working in this specialised field.
Genetic Polymorphism and Disease
by Syed Sameer Aga Mujeeb Zafar Banday Saniya NissarGenetic polymorphisms are important determinants of phenotypic variations and may modulate the risk to or even cause various diseases including genetic disorders and multifactorial diseases. Genetic polymorphisms also serve as important genetic, population and evolutionary markers that allow the study of genetic and evolutionary aspects of individuals, populations and organisms and aid in tracing the evolutionary and parental lineages. Genetic polymorphisms in low penetrance genes are responsible for the alterations in the gene expression of critical signal transduction proteins and metabolic enzymes. Some of these polymorphisms are linked to increased susceptibility to various diseases especially cancers, cardiovascular diseases, immune disorders, neurological pathologies. This book collates the reviews on the roles played by polymorphisms in critical metabolic, signal transduction, cell cycle or DNA repair genes either directly or indirectly in the disease mechanisms. The focus is on various techniques for identifying the various Single Nucleotide Polymorphisms (SNPs). Polymorphism studies document the affect SNPs, and their expressions have upon the functionality of the enzymes, proteins. Key Features Describes the genetic polymorphism and its various types Discusses the role of genetic polymorphisms in modulating the risk of various human diseases Explores various molecular techniques used for detecting GPs Characterizes the role of SNPs in modulating the susceptibility of human diseases Provides a genetic basis for individual variations in response to therapeutics
Genetic Programming Theory and Practice XIX (Genetic and Evolutionary Computation)
by Leonardo Trujillo Stephan M. Winkler Sara Silva Wolfgang BanzhafThis book brings together some of the most impactful researchers in the field of Genetic Programming (GP), each one working on unique and interesting intersections of theoretical development and practical applications of this evolutionary-based machine learning paradigm. Topics of particular interest for this year´s book include powerful modeling techniques through GP-based symbolic regression, novel selection mechanisms that help guide the evolutionary process, modular approaches to GP, and applications in cybersecurity, biomedicine and program synthesis, as well as papers by practitioner of GP that focus on usability and real-world results. In summary, readers will get a glimpse of the current state of the art in GP research.
Genetic Programming Theory and Practice XVIII (Genetic and Evolutionary Computation)
by Leonardo Trujillo Wolfgang Banzhaf Bill Worzel Stephan WinklerThis book, written by the foremost international researchers and practitioners of genetic programming (GP), explores the synergy between theoretical and empirical results on real-world problems, producing a comprehensive view of the state of the art in GP. In this year’s edition, the topics covered include many of the most important issues and research questions in the field, such as opportune application domains for GP-based methods, game playing and co-evolutionary search, symbolic regression and efficient learning strategies, encodings and representations for GP, schema theorems, and new selection mechanisms. The book includes several chapters on best practices and lessons learned from hands-on experience. Readers will discover large-scale, real-world applications of GP to a variety of problem domains via in-depth presentations of the latest and most significant results.
Genetic Research on Addiction
by Audrey R. ChapmanThe manner in which genetic research associated with addiction is conducted, interpreted and translated into clinical practice and policy initiatives raises important social, ethical and legal issues. Genetic Research on Addiction fulfils two key aims; the first is to identify the ethical issues and requirements arising when carrying out genetically-based addiction research, and the second is to explore the ethical, legal and public policy implications of interpreting, translating and applying this research. The book describes research guidelines on human protection issues such as improving the informed consent process, protecting privacy, responsibilities to minors and determining whether to accept industry funding. The broader public health policy implications of the research are explored and guidelines offered for developing effective social interventions. Highly relevant for clinicians, researchers, academics and policy-makers in the fields of addiction, mental health and public policy.
Genetic Technology and Sport: Ethical Questions (Ethics and Sport)
by Claudio Tamburrini Torbjörn TännsjöWill the genetic design of athletes destroy sport … or will it lead to a new and extraordinary age of athletic achievement? Exploring a new territory in sport and ethics, this edited collection contains some of the best new writing that has emerged from the debates concerning the uses of genetic technologies to improve sport performance. Issues covered include: * gene technology and sports ethics* genetic testing in sports* gene technology and the sporting ethos* gene technology and gender equality in sport. This cutting-edge text is the first on the subject to analyze gender specific questions that arise from genetically modified sport and is likely to provoke further debate in the world of sport and bio-ethics. Contributors include Lincoln Allison, Ruth Chadwick, Arne Ljungqvist, Andy Miah, Christian Munthe, Bengt Saltin, Angela Schnieder and many more.
Genetic Testing: Accounts of Autonomy, Responsibility and Blame (Genetics and Society)
by Srikant Sarangi Michael Arribas-Ayllon Angus ClarkeAdvances in molecular genetics have led to the increasing availability of genetic testing for a variety of inherited disorders. While this new knowledge presents many obvious health benefits to prospective individuals and their families it also raises complex ethical and moral dilemmas for families as well as genetic professionals. This book explores the ways in which genetic testing generates not only probabilities of potential futures, but also enjoys new forms of social, individual and professional responsibility. Concerns about confidentiality and informed consent involving children, the assessment of competence and maturity, the ability to engage in shared decision-making through acts of disclosure and choice, are just some of the issues that are examined in detail.