Our understanding of the genetic and developmental mechanisms underlying scoliosis is rapidly evolving, this timely second edition of The Genetics and Development of Scoliosis is to provide researchers, clinicians, and students with the most current views in this field. This volume brings together leaders in understanding congenital and idiopathic scoliosis to present the current state of research, and to compare the genetic etiology of these conditions, in order to identify potential shared developmental mechanisms. This book will summarize the recent advances in studies of spinal development and how disruptions during embryogenesis in embryonic segmentation can lead to congenital vertebral defects. In addition, recent reports of genetic loci predisposing patients to develop juvenile and adolescent idiopathic scoliosis will be presented, and key clinical features are reviewed. Finally, there will be discussion of how genetic heterogeneity and gene-environment interactions may contribute to congenital scoliosis and isolated vertebral malformations.

The role of vitamin A in living organisms has been known throughout human history. In the last 100 years, the biochemical nature of vitamin A and its active derivative, retinoic acid, its physiological impact on growth processes, and the essential details of its mechanism of action have been revealed by investigations carried out by researchers using vertebrate and more recently invertebrate models to study a multiplicity of processes and conditions, encompassing embryogenesis, postnatal development to old age. A wealth of intercellular interactions, intracellular signaling systems, and molecular mechanisms have been described and the overall conclusion is that retinoic acid is essential for life. This book series, with chapters authored by experts in every aspect of this complex field, unifies the knowledge base and mechanisms currently known in detailed, engaging, well-illustrated, focused chapters that synthesize information for each specific area. In view of the recent information explosion in this field, it is timely to publish a contemporary, comprehensive, book series recapitulating the most exciting developments in the field and covering fundamental research in molecular mechanisms of vitamin A action, its role in physiology, development, and continued well-being, and the potential of vitamin A derivatives and synthetic mimetics to serve as therapeutic treatments for cancers and other debilitating human diseases. Volume II is divided into nine chapters contributed by prominent experts in their respective fields. Each chapter starts with the history of the area of research. Then, the key findings that contributed to development of the field are described, followed by a detailed look at key findings and progress that are being made in current, ongoing research. Each chapter is concluded with a discussion of the relevance of the research and a perspective on missing pieces and lingering gaps that the author recommends will be important in defining future directions in vitamin A research.

Employing accessible language throughout, this book covers the history of psychiatric research, the current state-of-the art in psychiatric practice, the physiological systems affected by psychiatric illnesses, the whole-body nature of these diseases and the impact that this aspect has on emerging biomarker discoveries. Further, it provides descriptions of the major specific psychiatric disorders and the special challenges regarding the diagnosis and treatment of each. The book concludes with insights into the latest developments in hand-held biomarker test devices, which can provide diagnostic information in less than 15 minutes in point-of-care settings. This book investigates the emerging use of biomarkers in the study of psychiatric diseases, a topic of considerable importance for a broad range of people including researchers, clinicians, psychiatrists, university students and even those whose lives are affected in some way by a psychiatric illness. The last category is hardly trivial, since a staggering one in three people worldwide show the criteria for at least one psychiatric disorder at some point in their lifetime.

This book presents the state of the art of type 2 diabetes genetics, from the process of genetic discovery to its interpretation and clinical application, and illustrates a model for other complex human phenotypes.The first section explores genome-wide association studies, the extension of this method to less accessible phenotypes and the arrival of next-generation sequencing. A further section goes beyond genetics to illustrate how other data sources can help interpret genetic data, such as leveraging population diversity, the correlation of genetic associations with physiological measurements, gene expression modulation, environmental factors and our microbial commensals. The third section describes advances in elucidating the complex path from association to function using in-depth sequencing and functional studies of the cellular and molecular effects of genes in the loci identified by genetics. The final section links our current understanding with clinically relevant questions, such as prediction, interactions with drugs or nutrients, and disease prevention, and paints a realistic but hopeful vision of the future.

This second edition volume expands on the previous edition by presenting updated protocols for several of the techniques described in the first edition of Drosophila: Methods and Protocols and current methods that cover recent breakthroughs in Drosophila research. The book begins with a description of FlyBase--a database of genes and genomes--followed by the presentation of systems for versatile gene expression in the fly. The first few chapters in this book detail gene knockdown and editing, including CRISPR-Cas9 and protein knockdown. The next few chapters are devoted to methods describing live imaging of different tissues and organs, followed by chapters on how to quantify image data and how to probe tissue mechanics by laser ablation. The next two chapters provide methods for analyzing transcription followed by protocols to study growth, metabolism, ageing, and behavior in Drosophila. This volume concludes with chapters on electrophysiological recordings and methods to establish cell lines. 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, Drosophila: Methods and Protocols, Second Edition is a valuable source of hands-on protocols and reviews for molecular, cell, and developmental biologists using Drosophila as model systems in their work.

This book provides a timely state-of-the-art overview of voltage-gated sodium channels, their structure-function, their pharmacology and related diseases. Among the topics discussed are the structural basis of Na+ channel function, methodological advances in the study of Na+ channels, their pathophysiology and drugs and toxins interactions with these channels and their associated channelopathies.

This volume seeks to understand how organisms and gene functions are influenced by environmental cues while accounting for variation that takes place within and among environmental populations and communities. Microbial Environmental Genomics (MEG) guides readers through methods to analyse the diversity of different organism types (archaea, bacteria, fungi, protists and microfauna), interactions between fungi and trees, and methods to identify and characterize functions and functional diversity of both pro- and eukaryotes. Written for the 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 practical, Microbial Environmental Genomics (MEG) will serve as a primary research reference for researchers and research managers in environmental microbiology working in the expanding field of molecular ecology and environmental genomics.

This book explores mental disorders from a uniquely evolutionary perspective. Although there have been many attempts to mathematically model neural processes and, to some extent, their dysfunction, there is very little literature that models mental function within a sociocultural, socioeconomic, and environmental context. Addressing this gap in the extant literature, this book explores essential aspects of mental disorders, recognizing the ubiquitous role played by the exaptation of crosstalk between cognitive modules at many different scales and levels of organization, the missing heritability of complex diseases, and cultural epigenetics. Further, it introduces readers to valuable control theory tools that permit the exploration of the environmental induction of neurodevelopmental disorders, as well as the study of the synergism between culture, psychopathology and sleep disorders, offering a distinctively unique resource.

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

"In this remarkably broad and far-reaching work, editor Mark Rothstein and his distinguished list of contributors have laid out an impressive framework for the field. Beginning with a survey of public attitudes, and progressing through scientific, clinical, governmental, legal, economic, and societal issues, the text builds to a final provocative epilogue on consequences for public policy."
—from the Foreword by Francis S. Collins

Pharmacogenomics promises to revolutionize medicine by enabling the prevention, diagnosis, and treatment of diseases at the genome level. While a substantial amount of public and private research focuses on new pharmacogenomic applications, notably less attention has been directed to the ethical, legal, and social implications of "individualized medicine." Mark Rothstein’s timely anthology reduces that scholarship deficit, presenting a multidisciplinary analysis of the scientific, clinical, economic, ethical, social, and legal implications of pharmacogenomics.

Assembling an all-star cast of bioethical scholars, medical researchers, legal scholars, and social scientists, Mark Rothstein examines the promises, questions, and concerns these revolutionary therapies implicitly present. Among other features, Pharmacogenomics:

• Reports for the first time the results of the first detailed, national survey of public attitudes regarding pharmacogenomics
• Covers informed consent, privacy, confidentiality, and risk—benefit evaluations
• Analyzes the potentially enormous changes in the standard of care and the approach to treatment with the development and application of pharmacogenomic technology
• Addresses practical considerations of education, training, oversight, guidelines and protocols, and continuing education requirements
• Recommends approaches to respond to the more complex issues of safety, efficacy, and quality in the distribution and development of individualized therapies
• Explores the new legal standards and implementation challenges
• Offers a policy framework that balances the benefits and risks and considers the wide range of legislative, regulatory, and professional options

Biotechnology and pharmaceutical researchers and regulators, health care professionals and students, and academics and policymakers will find Pharmacogenomics to be a valuable resource.

Computational Epigenetics and Diseases, written by leading scientists in this evolving field, provides a comprehensive and cutting-edge knowledge of computational epigenetics in human diseases. In particular, the major computational tools, databases, and strategies for computational epigenetics analysis, for example, DNA methylation, histone modifications, microRNA, noncoding RNA, and ceRNA, are summarized, in the context of human diseases. This book discusses bioinformatics methods for epigenetic analysis specifically applied to human conditions such as aging, atherosclerosis, diabetes mellitus, schizophrenia, bipolar disorder, Alzheimer disease, Parkinson disease, liver and autoimmune disorders, and reproductive and respiratory diseases. Additionally, different organ cancers, such as breast, lung, and colon, are discussed. This book is a valuable source for graduate students and researchers in genetics and bioinformatics, and several biomedical field members interested in applying computational epigenetics in their research.

New advances in genetics have dramatically expanded our ability to avoid, prevent, diagnose, and treat a wide range of disorders. Now, more than ever, families need to know about these new discoveries, especially as there are some 7,000 rare genetic diseases that afflict about 1 in 12 of us. In Your Genes, Your Health, Aubrey Milunsky provides an invaluable and authoritative guide to what you should know about your genes. Illustrated with poignant family histories that underscore the lifesaving importance of knowing one's family medical history and ethnic origin, the book highlights the importance of recognizing seemingly unrelated disorders in a family as due to the same gene mutation and it outlines the key genetic tests needed for diagnosis, detection of carriers, and prenatal diagnosis. Many genetic disorders are discussed including cancer, heart disease, autism, mental illness, birth defects, neurologic disorders, diabetes, obesity and much more. The message of this book is clear--know your family history, be cognizant of your ethnic origins, seek appropriate consultations, and opt for meaningful genetic tests. Recognition of your risk(s) enables prompt preemptive action. By knowing your genes, you may save your life and the lives of those you love.

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

This unique book explores the role of retrotransposons in human health and disease. The ability of retrotransposons to affect the structure of human genes is recognized since the late 80's. However, the advances of deep-sequencing technologies have shed new light on the extent of retrotransposon-mediated genome variations. These progresses have also led to the discovery that retrotransposon activity is not restricted to the germline - resulting in inheritable genetic variations - but can also mobilize in somatic tissues, such as embryonic stem cells, neuronal progenitor cells, or in many cancers. This book covers topics related to the effects of retrotransposon insertions, and their consequences on germline and somatic genome dynamics, but also discuss the role and impact of retrotransposons sequences in a broader context, including a number of novel topics that emerged recently (long non-coding RNA, neuronal disorders, exaptation) with unexpected connections between retrotransposons, stem cell maintenance, placentation, circadian cycles or aging.

This volume presents a comprehensive collection of quick assays for the detection of nuclear and mitochondrial DNA damage and its effects in live and fixed cells and tissues, and in bacterial genomes. Although, such rapid techniques are in demand in the "research trenches" they are not covered well in the literature. This volume is the first such compendium of the time-saving techniques for detection of DNA damage and its direct physiological outcomes including apoptosis, necrosis and phagocytic clearance. The volume demonstrates all levels of detection, starting from the molecular level up to the level of the entire live organism. 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 cutting-edge, Fast Detection of DNA Damage: Methods and Protocols aims to provide easily reproducible techniques requiring only few steps to perform.

This detailed volume describes a spectrum of methods and protocols that can be used for the bench-to-bedside development and evaluation of retinal gene therapy. Methods for the successful delivery of these gene therapy vector systems to the retina are examined, as well as assays to test the efficacy in vitro in cell cultures, for gene augmentation and gene editing in vivo on rodents, pigs, and monkey retinas, and on human retinal explants as well as in human clinical studies. 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 protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Retinal Gene Therapy: Methods and Protocols provides a wide range of readers from students to research experts with vital information on ocular gene therapy vector technology, in vitro and in vivo biological assays, and clinical protocols, to promote further studies for the benefit of children and adults with inherited retinal disease.

This book brings together and updates the latest information on the diversity of yeasts, their molecular features and their applications in the welfare of mankind. Yeasts are eukaryotic microfungi widely found in natural environments, including those with extreme conditions such as low temperatures, low oxygen levels and low water availability. To date, approximately 2,000 of the estimated 30,000 to 45,000 species of yeast on Earth, belonging to around 200 genera have been described. Although there are a few that are opportunistic human and animal pathogens, the vast majority of yeasts are beneficial, playing an important role in the food chain and in the carbon, nitrogen and sulphur cycles. In addition, yeasts such as Saccharomyces cerevisiae, Hansenula polymorpha and Pichia pastoris are used in expressing foreign genes to produce proteins of pharmaceutical interest. A landmark in biotechnology was reached in 1996 with the completion of sequencing of the entire S. cerevisiae genome, and it has now become a central player in the development of an entirely new approach to biological research and synthetic biology. The sequencing of genomes of several yeasts including Schizosaccharomyces pombe, Candida albicans and Cryptococcus neofromans has also recently been completed.

This stimulating analysis reviews the broad potential of animal models to foster a deeper understanding of human pathology, strengthen connections between genetic and behavioral studies, and develop more effective treatments for mental disorders. Widely-studied and lesser-used species are examined in models that capture features along the continuum of normative and pathological behavior. The models highlight genetic causes of core features, or endophenotypes, of developmental, internalizing, and externalizing disorders, as well as dementia. Expert contributors address questions ranging from how suitable species are chosen for study to the costs and benefits of using inbred versus outbred strains, and the effects of housing environment on subject animals. Larger issues addressed include how to evaluate the applicability of animal behavioral models to the human condition and how these models can harness emerging molecular technologies to further our understanding of the genetic basis of mental illness. Included in the coverage: Mating and fighting in Drosophila. Attachment and social bonding. Impulsivity in rodents and humans. Animal models of cognitive decline. Animal models of social cognition. Future directions for animal models in behavioral genetics. A detailed map of where this evolving field is headed, Animal Models of Behavior Genetics shows geneticists, molecular biologists, and cognitive neuroscientists paths beyond established concepts toward a more knowledgeable and collaborative future.

This book examines the current research in gene-environment transactions (GEX) and its potential use in developing interventions and applications tailored to individual genetic makeups. Key concepts underlying GEX studies in this area are defined, identifying fundamental challenges in devising informed research questions and conducting valid and useful experiments. Chapters analyze GEX models inspired by the present day genome-based frameworks, particularly in terms of advances in identifying and understanding complex environmental factors, using examples from common psychological conditions, such as antisocial behavior, chronic physical aggression, and chronic internalizing disorder. In addition, the book presents new and potential applications of the framework in the contexts of prevention science and intervention research. Topics featured in this book include: Epigenetics and the biology of gene x environment interactions. Gene by environment interactions and its potential use for intervention strategies in anxiety disorders. The challenges and potential for research on gene-environment interactions within autism spectrum disorder. Using genetically informed prevention trials to test gene x environment hypothese. Challenges for intervention research within the GEX framework. Gene-Environment Transactions in Developmental Psychopathology is a must-have resource for researchers/professors, clinicians, and related professionals as well as graduate students in developmental psychology, psychiatry, human genetics, and related disciplines.

This thesis outlines the development of the very first technology for high-throughput analysis of paired heavy and light-chain antibody sequences, opening an entirely new window for antibody discovery and the investigation of adaptive immune responses to vaccines and diseases. Previous methods for high-throughput immune repertoire sequencing have been unable to provide information on the identity of immune receptor pairs encoded by individual B or T lymphocytes. The author directly addresses these limitations by designing two new technologies for sequencing multiple mRNA transcripts from up to 10 million isolated, single cells. The techniques developed in this work have enabled comprehensive interrogation of human B-cell repertoires and have been applied for rapid discovery of new human antibodies, to gain new insights into the development of human antibody repertoires, and for analysis of human immune responses to vaccination and disease.

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

This book brings together many of the main conclusions of the European Concerted Action Programme on Genetic Hearing Impairment (HEAR). It is spilt into four sections, covering definitions, protocols, genotype/phenotype relationships and important websites.The section on definitions enables all those approaching the problems of Genetic Hearing Impairment from different backgrounds to communicate in the same language and understand what each is doing more clearly. The definitions are of Audiological, Vestibulogical, Epidemiological and Genetic terms, together with specific terms associated with particular craniofacial abnormalities.

The second section comprises protocols for the minimal set investigation of patients and their family members with genetic hearing impairment. Relatively little work has been done in the past on the balance of disorders which may be associated with Genetic Hearing Impairment and a protocol aiming to elucidate some of these factors in a relevant way has been defined. The final chapter in this section deals with how audiologists should relate to genetic laboratories in an attempt to reduce the confusion which has risen in this field in the past.

The third section is concerned with the relationship between genotypes and phenotypes in non-syndromal hearing impairment in the conditions in which the genes have so far been localised and in many cases identified.

The final section deals with the important websites within this field. The most important and the most visited is the Hereditary Hearing Loss website based on Antwerp and managed by Guy Van Camp and Richard Smith.

This volume covers the latest protocols designed to identify and characterize TEs in genomes, ancient or recently inserted. Additionally, this book includes a series of protocols designed to understand how host genomes act to regulate the activity of TEs, from elegant genetic mobilization assays to key biochemical methods. Finally, this book also includes chapters that describe how TEs can be used for biotechnological applications. Written for the 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 practical, Transposons and Retrotransposons: Methods and Protocols aims to ensure successful results in the further study of this vital field.

The aim of the book is to discuss the application of molecular pathology in cancer research, and its contribution in the classification of different tumors and identification of potential molecular targets, as well as how this knowledge may be translated into clinical practice, and the huge impact this field is likely to have in the next 5 to 10 years.

This volume is a compilation of sixteen chapters that detail reverse genetics protocols. Reverse Genetics of RNA Viruses: Methods and Protocols guides readers through comprehensive protocols on RNA viruses, that were the most challenging to obtain and/or that were developed most recently. 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 practical, Reverse Genetics of RNA Viruses: Methods and Protocols aims to ensure successful results in the further study of this vital field.