This book is aimed at analyzing the foundations of medical ethics by considering different moral theories and their implications for judgments in clinical practice and policy-making. It provides a review of the major types of ethical theory that can be applied to medical and bioethical issues concerning reproductive genetics. In response to the debate on the most adequate ethical doctrine to guide biomedical decisions, this book formulates views that capture the best elements in each, bearing in mind their differences and taking into account the specific character of medicine. No historically influential position in ethics is by itself adequate to be applied to reproductive decisions. Thus, this book attempts to offer a pluralistic approach to biomedical research and medical practice. One usually claims that there are some basic principles (non-maleficence, beneficence, confidentiality, autonomy, and justice) which constitute the foundations of bioethics and medical ethics. Yet these principles conflict with each other and one needs some criteria to solve these conflicts and to specify the scope of application of these principles. Exploring miscellaneous ethical approaches as introduced to biomedicine, particularly to reproductive genetics, the book shall elucidate their different assumptions concerning human nature and the relations between healthcare providers, recipients, and other affected parties (e.g. progeny, relatives, other patients, society). The book attempts to answer the question of whether the tension between these ethical doctrines generates conflict in the field of biomedicine or if these competing approaches could in some way complement each other. In this respect, lecturers and researchers in bioethics would be interested in this reading this book.

This volume introduces software used for gene prediction with focus on eukaryotic genomes. The chapters in this book describe software and web server usage as applied in common use-cases, and explain ways to simplify re-annotation of long available genome assemblies. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary computational requirements, step-by-step, readily reproducible computational protocols, and tips on troubleshooting and avoiding known pitfalls. Cutting-edge and thorough, Gene Prediction: Methods and Protocols is a valuable resource for researchers and research groups working on the assembly and annotation of single species or small groups of species. Chapter 3 is available open access under a CC BY 4.0 license via link.springer.com.

This volume presents a series of protocols and methods, some of which are not widely used by researchers/practitioners, and will aid in the execution of different laboratory techniques. Forensic DNA Typing Protocols, Second Edition is arranged into a series of related chapters. Chapter 1-3 examines two different aspects of RNA analysis for body fluid identification. Chapters 4-7 focuses on the storage of biological materials and the extraction of DNA from hard tissues. Chapters 8-10 present methods for monitoring the quality of DNA extracts, and steps to aid in the purification of DNA. Chapters 11-16 talk about methods on non-standard markers, such as INDELs, Y chromosome STRs, and mitochondrial DNA. Detailed procedures and data analysis for phenotypes and ancestry are explored in Chapter 17-19. The last chapter (20) looks at the application of DNA typing to the identification of non-human material to species level. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Practical and thorough, Forensic DNA Typing Protocols, Second Edition, is a valuable resource for forensic specialists, researchers, and anyone interested in the field of forensic science.

Genetics promises to provide one of the most powerful approaches to understanding the functional pathology of the human brain. This book presents a critical review of the evidence for a genetic contribution to common psychiatric conditions and the rarer single-gene disorders that may have psychiatric presentations
The first section of the book introduces the reader to molecular biology and the techniques of molecular genetics. The coverage then moves on to consider the genetics of normal and abnormal development, followed by a look at the genetics of abnormal behaviour in adults. This section includes, amongst others, consideration of personality disorders, schizophrenia and the dementias. The final section considers the applications of the work and covers issues such as counselling and ethics, closing with a look to the future.
The editors are internationally renowned figures in this field and they have invited a team of equally eminent chapter authors.
This will be essential reading for psychiatrists and geneticists and will be essential reading for psychiatrists and geneticists and will be of interest to neurologists, psychologists and neuroscientists.

This volume elaborates on the research and clinical implications of the hereditary and molecular basis of childhood cancers. The focus of the 'disease-related' chapters of the book is to integrate what is known about the molecular basis of that particular clinical entity (or group of related entities) with the clinical manifestations, to relate the relationship of the molecular oncologic pathways with relevant developmental or non-human species biology in order to better understand the complexity of these systems. The resulting clinical implications of understanding this biology are elaborated on. Chapters 13-16 discuss the broader psychosocial, ethical and genetic counseling issues that arise and that are so critical to translating the knowledge gained from advances in molecular genetics into the clinic. Chapter 12 in particular provides a unique perspective of the application of this knowledge in less-developed nations where 'modern' technologies may not be readily available, but where the clinical manifestations of these disorders are prevalent.

This book provides a unique overview on the most recent developments in initially diverse areas of behavioral genomic research that now start to intertwine to provide more detailed insights into the complex nature of behavior in health and disease. It focuses on our current understanding of genetic and epigenetic mechanisms of brain function and how they contribute to the complex formation of behavioral traits and psychiatric disorders. Readers experience diverse perspectives of the contributing authors starting from the genetic viewpoint and the effort to establish functional connection between genetic variants and behavioral phenotypes. Particular attention is given to the broad spectrum of epigenetic mechanisms and behavior. The chapter 'Role of MicoRNAs in Anxiety and Anxiety-Related Disorders' is available open access under a CC BY 4.0 license at link.springer.com

Congenital malformations are worldwide occurrences striking in every condition of society. These severe physical abnormalities which are present at birth and affecting every part of the body happen more often than usually realized, once in every 33 births. The most common, after heart defects, are those of the neural tube (the brain and spinal cord) which happen in as many as one in every 350 births. They have been noted as curiousities in man and beast throughout recorded history and received great attention in our time by various fields of study, for example, their faulty prenatal development by embryologists, familial patterns by geneticists, causation by environmentalists and variability by population scientists.

Attention turned much in recent years to the relation of these malformations to deficiency of a particular dietary ingredient, folic acid, a subject this book analyzes in depth. The greatest conundrum of all, which this latest matter like so much else hinges on, is the amazing fact of the tremendous, almost universal decrease in the frequency of these anomalies since early in the 20th century. The puzzle is 'What can this downward trend possibly mean?' and at bottom 'Whether it is part of a long-term cyclical pattern'. This fascinating biological phenomenon is explored in the book together with various other topics.

Neurons are arguably the most complex of all cells. From the action of these cells comes movement, thought and consciousness. It is a challenging task to understand what molecules direct the various diverse aspects of their function. This has produced an ever-increasing amount of molecular information about neurons, and only in Molecular Biology of the Neuron can a large part of this information be found in one source. In this book, a non-specialist can learn about the molecules that control information flow in the brain or the progress of brain disease in an approachable format, while the expert has access to a wealth of detailed information from a wide range of topics impacting on his or her field of endeavour. The text is designed to achieve a balance of accessibility and broad coverage with up-to-date molecular detail. In the six years since the first edition of Molecular Biology of the Neuron there has been an explosion in the molecular information about neurons that has been discovered, and this information is incorporated into this second edition. Entirely new chapters have been introduced where recent advances have made a new aspect of neuronal function more comprehensible at the molecular level. Written by leading researchers in the field, the book provides an essential overview of the molecular structure and function of neurons, and will be an invaluable tool to students and researchers alike.

The growing knowledge about disturbances of epigenetic gene regulation in hematopoietic stem cell disorders is now being translated into treatment approaches that target the epigenetic defects pharmacologically. This book first presents the latest evidence regarding the epigenetic regulation of hematopoietic stem cell differentiation and hemoglobin production. The significance of DNA methylation abnormalities in hematopoietic disorders and of epigenetic disturbances in lung cancer and other solid tumors is then discussed. A major part of the book, however, relates specifically to the translation of basic research and drug development to clinical applications, and in this context both present and future clinical strategies are considered. Individual chapters are devoted to the use of DNA hypomethylating agents and chromatin-modifying agents, and the treatment of hematologic malignancies and solid tumors by means of epigenetic agents is discussed in detail.

This detailed volume guides readers through strategic planning and user-friendly guidelines in order to select the most suitable CRISPR-Cas system and target sites with high activity and specificity. Methods covering CRISPR gRNA design, CRISPR delivery, CRISPR activity quantification (indel quantification), and examples of applying CRISPR gene editing in human pluripotent stem cells, primary cells, gene therapy, and genetic screening are included. Written for the highly successful Methods in Molecular Biology series, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and invaluable, CRISPR Gene Editing: Methods and Protocols will assist undergraduates, graduates, and researchers with detailed guidelines and methods for the vitally important CRISPR gene editing field. Chapter 3 is available open access under a CC BY 4.0 license via link.springer.com.

Molecular genetics has revolutionised our understanding of human disease and nowhere is this more apparent than the group of diseases caused by mitochondrial dysfunction. The concept of mitochondrial diseases dates back only as far as the 1960s, and they were given little credence until mutations in mitochondrial DNA were found in the late 1980s. This international edited book summarises the advances in human mitochondrial genetics made over the past decade and a half. During that time, numerous mutations of mitochondrial DNA have been discovered and more recently mitochondrial diseases have been linked to a number of nuclear gene mutations. Although individually rare, mitochondrial diseases collectively represent a common cause of genetic disease. They have myriad effects and often manifest as common disorders such as diabetes, cardiac dysfunction and neurodegenerative disease. Effective treatments are unlikely to be found for some time for the vast majority of mitochondrial disorders and so pre-natal diagnosis and genetic counselling are of primary importance in the management of mitochondrial disease.

In order to make sense of the diversity of mitochondrial disease the reader is first treated to a review of mitochondrial DNA metabolism and normal mitochondrial function. The core of the book details specific mitochondrial and nuclear mutations and the diseases they cause, whilst at the same time providing further insight into mitochondrial function. Later sections assess the role of cellular and animal models in advancing our understanding of mitochondrial diseases and the prospects for novel therapeutic strategies to combat these enigmatic disorders.

Mitochondrial diseases are an increasingly recognised cause of inherited disease. Most clinicians are now aware of this group of diseases and those involved in genetic counselling will recognise the need for a greater understanding of this group of disorders. This book will also appeal to scientific and medical geneticists, and to registrars who encounter this group of diseases in the clinic.

This book illustrates the activities of mammalian sirtuin SIRT6 in connection with DNA damage repair and premature aging. It mainly presents research on the nuclear lamin A, notably the upregulation of p53 and acetylation etc. Taken together, these studies reveal the various regulatory roles of SIRT6, which are of substantial biological relevance in DNA damage repair, aging and longevity, and can have significant implications in devising therapeutic strategies to combat age-associated pathologies. Given its scope, the book offers a valuable resource for students and researchers in the fields of genetics, cell biology, molecular biology etc.

Molecular Chaperones in Human Disorders, Volume 114 in the Advances in Protein Chemistry and Structural Biology series, provides an overview of current developments in mechanisms underlying DNA repair and their involvement in maintaining chromatin repair, the balance between chromosomal repair pathways, tumorigenesis, immune signaling and infection-induced inflammation. Chapters in this new release cover Functional principles and regulation of molecular chaperones, Chaperones and retinal disorders, Protein misfolding and degradation in genetic diseases, Chaperone dysfunction in hereditary myopathic diseases, Diseases caused by functional disorder of molecular chaperones residing in the endoplasmic reticulum, and many other timely topics.

This second edition explores up-to-date tools in various function-based technologies currently used in metagenomics. The chapters in this book discuss all of the working steps involved in these technologies, such as: DNA isolation from soils and marine samples followed by the construction and screening of libraries for diverse enzymes and biomolecules; current methods used to isolate DNA and construct large- and small-insert libraries from terrestrial and marine habitats; methods for establishing metagenome libraries in none-E.coli hosts; new molecular tools used for function-driven mining of metagenomic DNA; and screening protocols for a wide array of different genes encoding enzymes with relevance to biotechnology and ecology. Metagenomics: Methods and Protocols, Second Edition also provides detailed screening protocols for phosphatases, poly-hydroxyalkanoate, metabolism-related enzymes, stereoselective hydrolases, and microbial signals for the discovery of secondary metabolites. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Comprehensive and cutting-edge, Metagenomics: Methods and Protocols, Second Edition is a collection of up-to-date metagenome protocols and tools for the recovery of numerous major types of biocatalysts, and allows researchers to easily setup these screens in any microbiology laboratory.

This comprehensive handbook synthesizes the often-fractured relationship between the study of biology and the study of society. Bringing together a compelling array of interdisciplinary contributions, the authors demonstrate how nuanced attention to both the biological and social sciences opens up novel perspectives upon some of the most significant sociological, anthropological, philosophical and biological questions of our era. The six sections cover topics ranging from genomics and epigenetics, to neuroscience and psychology to social epidemiology and medicine. The authors collaboratively present state-of-the-art research and perspectives in some of the most intriguing areas of what can be called biosocial and biocultural approaches, demonstrating how quickly we are moving beyond the acrimonious debates that characterized the border between biology and society for most of the twentieth century. This landmark volume will be an extremely valuable resource for scholars and practitioners in all areas of the social and biological sciences. The chapter 'Ten Theses on the Subject of Biology and Politics: Conceptual, Methodological, and Biopolitical Considerations' is open access under a CC BY 4.0 license via link.springer.com. Versions of the chapters 'The Transcendence of the Social', 'Scrutinizing the Epigenetics Revolution', 'Species of Biocapital, 2008, and Speciating Biocapital, 2017' and 'Experimental Entanglements: Social Science and Neuroscience Beyond Interdisciplinarity' are available open access via third parties. For further information please see license information in the chapters or on link.springer.com.

It is now almost a decade since the identification of the Huntington's Disease gene and its mutation, during which time, major advances in our understanding of this disorder have been achieved. Since publication of the first two editions of this book, there have been considerable insights into how the mutation leads to the molecular pathology, neuropathology and clinical symptoms of Huntington's Disease, and experimental tools are now in place to take this research further towards new therapeutic approaches. As a result of these major advances, this well-established series of books has required radical updating. An international group of researchers and clinicians with specialist interests in HD has been commissioned to document the recent advances in our understanding of this disease. Developments in the fields of structural biology, cell biology, neurochemistry and neuropathology, with full coverage of transgenic animal models, are discussed in detail. The clinical sections cover genetic, neurological and psychiatric aspects as well as new developments in therapy. This book will continue to provide an invaluable source of information for clinicians and scientists involved with Huntington's Disease, including geneticists, psychiatrists and neurologists, and basic science research workers in genetics and neurobiology.

Sir Francis Galton (1822-1911) was a cousin of Charles Darwin and had a lasting impact on many scientific fields, including meteorology, genetics and anthropology. In this edition of his book, published in 1902 as the second edition of the 1884 original, Dalton conveys his hope that, through the scrupulous use of this record book throughout life, hereditary physical, mental and other health problems may be anticipated and avoided by the owner of the book and their descendants. This book will be of value to anyone with an interest in genetics, heredity or the history of science.

Stroke is a major cause of death and the major cause of adult neurological disability in most of the world. Despite its importance on a population basis, research into the genetics of stroke has lagged behind that of many other disorders. However, the situation is now changing. An increasing number of single gene disorders causing stroke are being described, and there is growing evidence that polygenic factors are important in the risk of apparently "sporadic" stroke.

Stroke Genetics provides an up-to-date review of the area, suitable for clinicians treating stroke patients, and both clinical and non-clinical researchers in the field of cerebrovascular disease. The full range of monogenic stroke disorders causing cerebrovascular disease, including ischaemic stroke, intracerebral haemorrhage, aneurysms and arteriovenous malformations, are covered. For each, clinical features, diagnosis, and genetics are described. Increasing evidence suggest that genetic factors are also important for the much more common multifactorial stroke; this evidence is reviewed along with the results of genetic studies in this area. Optimal and novel strategies for investigating multifactorial stroke, including the use of intermediate phenotypes such as intima-media thickness and MRI detected small vessel disease are reviewed. The book concludes by describing a practical approach to investigating patients with stroke for underlying genetic disorders. Also included is a list of useful websites.

This volume explores and explains how digital PCRs (dPCRs) help in the study of numerous topics, such as infectious diseases, evolution of cancer and treatment responses, somatic mosaicism, genome editing and cell therapy, and food testing for GMOs and pathogens. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and thorough, Digital PCR: Methods and Protocols is a valuable resource for specialists in various fields, including geneticists, neurologists, immunologists, oncologists, and researchers who are interested in environmental sciences."

The book recognizes that throughout the scientific, medical, and economic communities, new tests incorporating biomarkers are needed to improve the diagnosis of patients suffering from metabolic disorders. The early identification of those at risk of developing obesity will help to place these individuals on the best treatment course as early as possible for improved treatment outcomes. This will also help to cut costs incurred by the healthcare services. For all of this to occur, new research efforts are needed to identify novel biomarkers that can be used to predict the disease in the presymptomatic stage, for disease monitoring and for prediction of treatment response. It is also possible that new drug targets can be identified using these approaches which, in turn, can lead to the development of new treatment approaches. This volume also includes a series of reviews on biomarker discovery and usage in the study of diseases marked by perturbations in metabolism. It will describe the pros and cons of the various approaches and cover the successes and failures in this important research field.

This volume brings together recent developments in quasispecies theory extended to variable environments and practical applications in elucidating viral dynamics and treatment designs. In particular, the existence of an error threshold in rugged fitness landscapes has opened the way to a new antiviral strategy termed lethal mutagenesis, which is now under intensive theoretical, experimental and clinical investigation. As such the book explains how an understanding of quasispecies dynamics within infected organisms has increased our knowledge of viral disease events. From a clinical perspective, population dynamics highlights important problems for viral disease control, such as the selection of drug-resistant mutants that often accompanies treatment failures, and suggests means of increasing the effectiveness of antiviral treatments. The book is intended for students and scientists interested in basic and applied aspects of biophysics, chemistry, biology, evolution and medical virology.

Since the first edition of this highly acclaimed text was published in 1992, much new knowledge has been gained about the role of genetic factors in common adult disease, and we now have a better understanding of the molecular processes involved in genetic susceptibility and disease mechanisms. The Second Edition fully incorporates these advances. The entire book has been updated and twelve new chapters have been added. Most of these chapters deal with diseases such as gallstones, osteoporosis, osteoarthrits, skin cancer, other common skin diseases, prostate cancer and migraine headaches that are seen by all physicians. Others address the genetic and molecular basis of spondyloarthropathies, lupus, hemochromatosis, IgA deficiency, mental retardation, hearing loss, and the role of mitochondrial variation in adult diseases. Chapters on the evolution of human genetic disease and on animal models add important background on the complexities of these diseases. Unique clinical applications of genetics to common diseases are covered in additional new chapters on genetic counselling, pharmacogenetics, and the genetic consequences of modern therapeutics.

Major advances in the diagnosis and treatment of oral clefts have been made in the past 50 years, and recent genetics and epidemiological studies have led to new theories about the causes of cleft lip and palate. Addressing issues that are relevant to clinicians, researchers and family members, this book is a comprehensive, well-illustrated, and up-to-date account of the many facets of this common disorder. The authors describe the embryological and molecular mechanisms of cleft causation, present and illustrate the genetic and epidemiological methods used to identify risk factors for oral clefts, and describe treatments by the various professionals of the cleft team. A section is also devoted to the integration of research findings into public health practice, including ethical and financial considerations. The book draws together such diverse disciplines as craniofacial development, gene mapping, epidemiology, medicine, ethics, health economics, and health policy and management, and it will be an invaluable reference work.

This third edition volume expands on the previous editions by providing a comprehensive update on the available technologies required to successfully perform DNA methylation analysis. The different technologies discussed in this book analyze the global DNA methylation contents, comprehensive analyses using various NGS based methods for genome-wide DNA methylation analysis, along with precise quantification of DNA methylation levels on single CpG positions. The chapters in this book are divided into 7 parts: an introduction to the field along with tips on study design and data analysis; global DNA methylation levels; genome-wide DNA methylation analysis; highly multiplexed target regions; locus-specific DNA methylation analysis; DNA methylation analysis of specific biological samples; and hydroxymethylation. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Cutting-edge and thorough, DNA Methylation Protocols, Third Edition is a valuable resource for postdoctoral investigators and research scientists who work with different aspects of genetics, and cellular and molecular biology, as well as clinicians who are involved in diagnostics or treatment of diseases with epigenetic components.