Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Hematologic, Renal, and Immunologic Disorders, Seventh Edition thoroughly examines medical genetics and genomics as applied to hematologic, immunologic and endocrinologic disorders, with an emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods. Here, genetic researchers, students and health professionals will find new and fully revised chapters on the genetics of red blood cell diseases, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, and diabetes mellitus, as well as thyroid, parathyroid and gonad disorders, among other conditions. With regular advances in genomic technologies propelling precision medicine into the clinic, this book, which has served as the ultimate resource for clinicians integrating genetics into medical practice, continues to provide the most important information. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world's most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, this updated edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies.

Psychiatric Genomics presents and synthesizes available knowledge in the field of psychiatric genomics, offering methodologies to advance new research and aid clinical translation. After providing an introduction to genomics and psychiatry, international experts discuss the genomic basis of schizophrenia, bipolar disorder, depression, personality disorders, anxiety disorders, addictions, eating disorders, and sleep disorders, among other disorders. In addition, recommendations for next steps in clinical implementation and drug discovery are discussed in-depth, with chapters dedicated to pharmacogenomics and antipsychotics, antidepressants and mood stabilizers, adverse drug reactions, implementation of pharmacogenomics in psychiatric clinics, and ethical issues. Finally, methods sections provide a solid grounding in research approaches and computational analytics, from using animal models in psychiatric genomics and accessing biobanks, to employing computational analysis, genome-wide association studies (GWAS), brain pathophysiology, and endophenotypes in psychiatric research.

Applied plant genomics and biotechnology reviews the recent advancements in the post-genomic era, discussing how different varieties respond to abiotic and biotic stresses, investigating epigenetic modifications and epigenetic memory through analysis of DNA methylation states, applicative uses of RNA silencing and RNA interference in plant physiology and in experimental transgenics, and plants modified to produce high-value pharmaceutical proteins. The book provides an overview of research advances in application of RNA silencing and RNA interference, through Virus-based transient gene expression systems, Virus induced gene complementation (VIGC), Virus induced gene silencing (Sir VIGS, Mr VIGS) Virus-based microRNA silencing (VbMS) and Virus-based RNA mobility assays (VRMA); RNA based vaccines and expression of virus proteins or RNA, and virus-like particles in plants, the potential of virus vaccines and therapeutics, and exploring plants as factories for useful products and pharmaceuticals are topics wholly deepened. The book reviews and discuss Plant Functional Genomic studies discussing the technologies supporting the genetic improvement of plants and the production of plant varieties more resistant to biotic and abiotic stresses. Several important crops are analysed providing a glimpse on the most up-to-date methods and topics of investigation. The book presents a review on current state of GMO, the cisgenesis-derived plants and novel plant products devoid of transgene elements, discuss their regulation and the production of desired traits such as resistance to viruses and disease also in fruit trees and wood trees with long vegetative periods. Several chapters cover aspects of plant physiology related to plant improvement: cytokinin metabolism and hormone signaling pathways are discussed in barley; PARP-domain proteins involved in Stress-Induced Morphogenetic Response, regulation of NAD signaling and ROS dependent synthesis of anthocyanins. Apple allergen isoforms and the various content in different varieties are discussed and approaches to reduce their presence. Euphorbiaceae, castor bean, cassava and Jathropa are discussed at genomic structure, their diseases and viruses, and methods of transformation. Rice genomics and agricultural traits are discussed, and biotechnology for engineering and improve rice varieties. Mango topics are presented with an overview of molecular methods for variety differentiation, and aspects of fruit improvement by traditional and biotechnology methods. Oilseed rape is presented, discussing the genetic diversity, quality traits, genetic maps, genomic selection and comparative genomics for improvement of varieties. Tomato studies are presented, with an overview on the knowledge of the regulatory networks involved in flowering, methods applied to study the tomato genome-wide DNA methylation, its regulation by small RNAs, microRNA-dependent control of transcription factors expression, the development and ripening processes in tomato, genomic studies and fruit modelling to establish fleshy fruit traits of interest; the gene reprogramming during fruit ripening, and the ethylene dependent and independent DNA methylation changes.

Reciprocity in Population Biobanks: Relational Autonomy and the Duty to Inform in the Genomic Era begins by discussing how current judicial interpretation keeps standard of disclosure at the core of genomic research. The book then outlines multiple limitations individualistic autonomy faces in the context of gene and population biobanks, including an analysis of the complexities of benefit considerations in the research setting. Second, the book explores how individualistic autonomy fails to acknowledge the multilateral relationships implicated in genomic research, including those that affect the broader research community, research participants' families, and the general public. In carrying out this analysis, this book pays special attention to alternative approaches and ways researchers, public health officials, and judicial bodies might interact in years to come. In other words, implementing an understanding of relational autonomy that acknowledges and sustains the multilateral relationships found in genomic research without compromising the rights of participants. In short, this book proposes a reconceived duty to inform for researchers and a new standard of disclosure that is more meaningful and impactful for research participants and researchers.

Genome Stability: From Virus to Human Application, Second Edition, a volume in the Translational Epigenetics series, explores how various species maintain genome stability and genome diversification in response to environmental factors. Here, across thirty-eight chapters, leading researchers provide a deep analysis of genome stability in DNA/RNA viruses, prokaryotes, single cell eukaryotes, lower multicellular eukaryotes, and mammals, examining how epigenetic factors contribute to genome stability and how these species pass memories of encounters to progeny. Topics also include major DNA repair mechanisms, the role of chromatin in genome stability, human diseases associated with genome instability, and genome stability in response to aging. This second edition has been fully revised to address evolving research trends, including CRISPRs/Cas9 genome editing; conventional versus transgenic genome instability; breeding and genetic diseases associated with abnormal DNA repair; RNA and extrachromosomal DNA; cloning, stem cells, and embryo development; programmed genome instability; and conserved and divergent features of repair. This volume is an essential resource for geneticists, epigeneticists, and molecular biologists who are looking to gain a deeper understanding of this rapidly expanding field, and can also be of great use to advanced students who are looking to gain additional expertise in genome stability.

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies in this growing field. The book is ideal for medical students, residents, physicians and researchers involved in the care of patients with genetic conditions. This comprehensive, yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies.

Epigenetics and Metabolomics, a new volume in the Translational Epigenetics series, offers a synthesized discussion of epigenetic control of metabolic activity, and systems-based approaches for better understanding these mechanisms. Over a dozen chapter authors provide an overview of epigenetics in translational medicine and metabolomics techniques, followed by analyses of epigenetic and metabolomic linkage mechanisms likely to result in effective identification of disease biomarkers, as well as new therapies targeting the removal of the inappropriate epigenetic alterations. Epigenetic interventions in cancer, brain damage, and neuroendocrine disease, among other disorders, are discussed in-depth, with an emphasis on exploring next steps for clinical translation and personalized healthcare.

Scientific Principles of Adipose Stem Cells provides readers with in-depth and expert knowledge on adipose stem cells, their developmental biologic origins, foundational research on ASC signaling mechanisms and immunomodulatory properties, and clinical insights into applications in regenerative medicine. Topics covered include basic adipose stem cell developmental biology and mechanisms of regulating self-renewal and activation in the stem cell niche, important methods for isolation and characterizing ASCs, and data on the impact on human demographics (age, sex, BMI) on ASC phenotype. A section devoted to ASC biology, ASCs for stem cell therapy and regenerative medicine, and ASCs in tissue engineering applications are also included. The book is written for scientists and clinicians who are broadly familiar with stem cells and basic cell biology principles and those seeking advanced information on adipose stem cells.

Twin and Family Studies of Epigenetics, Volume 27, the latest release in the Translational Epigenetics series, gathers expert opinions on epigenetic twin and family study research methods, recent findings across various disease areas, and future directions. The book provides in-depth coverage of epigenetics fundamentals, twin and family epigenetic study design, and the broader role of epigenetics in answering questions on the developmental origins of health and disease. Throughout the volume, twin and family studies are employed to examine causes of epigenetic variation, the relationship between epigenetic modifications and mental illness, cancers, cardiovascular disease, diabetes, obesity, high blood pressure, and more. Emerging research methods applied in twin and family studies discussed include imaging epigenetics, exposure-specific DNA methylation changes, and unravelling time trends in epigenetic effects.

Brucella is a genus of Gram-negative, facultative, intracellular bacteria that are highly pathogenic for a variety of mammals, including humans. Recently the WHO cited brucellosis to be the world's most widespread zoonosis. An important feature of the pathogenicity of these organisms is their ability to survive and replicate within the host macrophages. However the mechanism for this is unclear. In addition, none of the classical bacterial virulence factors found in other bacterial pathogens have been found in the genomes of the forty Brucella species and biovars analysed to date. Nevertheless the application of systems biology approaches in recent years has transformed research, permitting fascinating new insights into Brucella molecular biology and genomics. Written by highly acclaimed Brucella scientists, this book comprehensively reviews the most important advances in the field. Opening chapters focus on genetic diversity within Brucella, covering both classical and new species. Pa

The latest edition of this highly successful textbook introduces the key techniques and concepts involved in cloning genes and in studying their expression and variation.
The new edition features:
Increased coverage of whole-genome sequencing technologies and enhanced treatment of bioinformatics.Clear, two-colour diagrams throughout.A dedicated website including all figures.

Noted for its outstanding balance between clarity of coverage and level of detail, this book provides an excellent introduction to the fast moving world of molecular genetics.

Developmental Human Behavioral Epigenetics: Principles, Methods, Evidence, and Future Directions, Volume 23, a new volume in the Translational Epigenetics series, offers the first systematic account of theoretical G79 frameworks, methodological approaches, findings, and future directions in the field of human behavioral epigenetics. Featuring contributions from leading scientists and international researchers, this book provides a comprehensive overview of human behavioral epigenetics, with a close examination of evidence gathered to-date from animal models, challenges of human-based research and clinical translation, pathways towards drug discovery, and next steps in research. Areas of focus include prenatal stress exposures, preterm behavioral epigenetics, intergenerational exposures, trauma and neglect, socio-economic conditions, maternal caregiving and attachment, study design, and epigenetics and psychotherapy.

Histone Modifications in Therapy provides an in-depth analysis of the role of histone mechanisms in major diseases and the promise of targeting histone modifications for disease prevention and treatment. Here, researchers, clinicians and students will discover a thorough, evidence-based discussion of the biology of histones, the diseases engaged by aberrant histone modifications, and pathways with therapeutic potential. Expert chapter addresses the role of histone modifications across a variety of disorders, including cancer, neuropsychiatric, neurodegenerative, cardiac, metabolic, infectious, bacterial, autoimmune and inflammatory disorders, among others. In relation to these disease types, histone modifications are discussed, both as mechanisms of prevention and possible treatment. A concluding chapter brings together future perspectives for targeting histone modifications in therapy and next steps in research.

Environmental Epigenetics in Toxicology and Public Health provides in-depth discussions of the suite of complex environmental factors shown to impact epigenetic components within the cell, as well as evidence that these epigenetic modifications are tied to early and later life health effects. This book offers a translational research perspective, highlighting both in vivo and human population-based evidence for ties between the environment, the epigenome, and health outcomes, with an emphasis on evidence for transgenerational effects of exposures, as well as developmental windows of susceptibility to environmentally-linked epigenetic effects. This volume in the Translational Epigenetics series aides in the development of new therapeutic options meant to reverse inappropriate epigenetic alterations, helping researchers in their efforts prevent and treat a variety of chronic diseases tied to environmental exposures.

Specific complexes of protein and RNA carry out many essential biological functions, including RNA processing, RNA turnover, and RNA folding, as well as the translation of genetic information from mRNA into protein sequences. Messenger RNA (mRNA) decay is now emerging as an important control point and a major contributor to gene expression. Continuing identification of the protein factors and cofactors and mRNA instability elements responsible for mRNA decay allow researchers to build a comprehensive picture of the highly orchestrated processes involved in mRNA decay and its regulation.
* Covers the nonsense-mediated mRNA decay (NMD) or mRNA surveillance pathway
* Expert researchers introduce the most advanced technologies and techniques
* Offers step-by-step lab instructions, including necessary equipment and reagents

Responsible Genomic Data Sharing: Challenges and Approaches brings together international experts in genomics research, bioinformatics and digital security who analyze common challenges in genomic data sharing, privacy preserving technologies, and best practices for large-scale genomic data sharing. Practical case studies, including the Global Alliance for Genomics and Health, the Beacon Network, and the Matchmaker Exchange, are discussed in-depth, illuminating pathways forward for new genomic data sharing efforts across research and clinical practice, industry and academia.

Microbiomics: Dimensions, Applications, and Translational Implications of Human and Environmental Microbiome Research describes a new, holistic approach to microbiomics. International experts provide in-depth discussion of current research methods for studying human, environmental, viral and fungal microbiomes, as well as the implications of new discoveries for human health, nutrition, disease, cancer research, probiotics and in the food and agricultural industries. Distinct chapters covering culturomics and sub-microbiomes, such as the viriome and mycetobiome, provide an integrative framework for the expansion of microbiomics into new areas of application, as well as crosspollination between research areas. Detailed case studies include the use of microbiomics to develop natural products with antimicrobial properties, microbiomic enhancements in food and beverage technology, microbes for bioprotection and biopreservation, microbial tools to reduce antibiotic resistance, and maintenance and cultivation of human microbial communities.

This volume provides comprehensive information on how mapping an individual's epigenome can be medically relevant and holds the potential to improve preventive medicine and precision therapeutics at an early-stage (prior to disease onset). In order to advance clinical adoption of the recently developed epigenetic approaches, it is necessary for translational scientists, clinicians, and students to gain a better understanding about epigenetic mechanisms that are associated with a particular disorder; and to be able to effectively identify biomarkers that can be applied in drug development and for better diagnosis and prognosis of diseases. Prognostic Epigenetics is the most-inclusive volume to-date specifically dedicated to epigenetic markers that have been developed for prognosis of diseases, recent advances in this field, the clinical implementation of this research, and the future outlook.

Translational Systems Medicine and Oral Disease bridges the gap between discovery science and clinical oral medicine, providing opportunities for both the scientific and clinical communities to understand how to apply recent findings in cell biology, genomic profiling, and systems medicine to favorably impact the diagnosis, treatment and management of oral diseases. Fully illustrated chapters from leading international contributors explore clinical applications of genomics, proteomics, metabolomics, microbiomics and epigenetics, as well as analytic methods and functional omics in oral medicine. Disease specific chapters detail systems approaches to periodontal disease, salivary gland diseases, oral cancer, bone disease, and autoimmune disease, among others. In addition, the book emphasizes biological synergisms across disciplines and their translational impact for clinicians, researchers and students in the fields of dentistry, dermatology, gastroenterology, otolaryngology, oncology and primary care.

Genome Chaos: Rethinking Genetics, Evolution, and Molecular Medicine transports readers from Mendelian Genetics to 4D-genomics, building a case for genes and genomes as distinct biological entities, and positing that the genome, rather than individual genes, defines system inheritance and represents a clear unit of selection for macro-evolution. In authoring this thought-provoking text, Dr. Heng invigorates fresh discussions in genome theory and helps readers reevaluate their current understanding of human genetics, evolution, and new pathways for advancing molecular and precision medicine.

Transgenerational Epigenetics, Second Edition, offers the only up-to-date, comprehensive analysis of the inheritance of epigenetic phenomena between generations with an emphasis on human disease relevance, drug discovery, and next steps in clinical translation. International experts discuss mechanisms of epigenetic inheritance, its expression in animal and plant models, and how human ailments, such as metabolic disorders and cardiovascular disease are influenced by transgenerational epigenetic inheritance. Where evidence is sufficient, epigenetic clinical interventions are proposed that may help prevent or reduce the severity of disease before offspring are born. This edition has been thoroughly revised in each disease area, featuring newly researched actors in epigenetic regulation, including long noncoding RNA in addition to histone modifications and DNA methylation. Therapeutic pathways in treating cancer and extending human longevity are also considered, as are current debates and future directions for research.

Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. This comprehensive, yet practical, resource emphasizes theory and research fundamentals relating to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine. Updated sections in this release cover the genetics of cardiovascular, respiratory and gastrointestinal disorders, with an emphasis on genetic determinants and new pathways for diagnosis, prevention and disease management. In addition, genetic researchers, students and health professionals will find new and fully revised chapters on the molecular genetics of congenital heart defects, inherited cardiomyopathies, hypertension, cystic fibrosis, asthma, hereditary pulmonary emphysema, inflammatory bowel disease, and bile pigment metabolism disorders among other conditions.

This book provides an up-to-date review and analysis of the carrot's nuclear and organellar genome structure and evolution. In addition, it highlights applications of carrot genomic information to elucidate the carrot's natural and agricultural history, reproductive biology, and the genetic basis of traits important in agriculture and human health. The carrot genome was sequenced in 2016, and its relatively small diploid genome, combined with the fact that it is the most complete root crop genome released to date and the first-ever Euasterid II genome to be sequenced, mean the carrot has an important role in the study of plant development and evolution. In addition, the carrot is among the top ten vegetables grown worldwide, and the abundant orange provitamin A carotenoids that account for its familiar orange color make it the richest crop source of vitamin A in the US diet, and in much of the world. This book includes the latest genetic maps, genetic tools and resources, and covers advances in genetic engineering that are relevant for plant breeders and biologists alike.

Mitochondrial Medicine: A Primer for Health Care Providers and Translational Researchers is an applied, holistic resource that addresses the evolving and multidisciplinary area of mitochondrial disease. The book discusses the fundamentals of mitochondrial medicine in humans, as well as the pathophysiology, diagnosis and treatment of mitochondrial diseases. Three all-inclusive sections examine the role of mitochondria in common medical conditions, such as diabetes, heart failure and the full range of inherited mitochondrial diseases. Sections cover the genetic and biochemical basis of both mitochondrial DNA deletion syndromes and point mutation syndromes, their clinical presentation, treatment plans, genetic counseling, prenatal testing, and ongoing research. While providing a solid foundation in its topic area, each chapter in the book is written in an accessible format with illustrative case studies, thus making it a quick bedside or clinical laboratory reference.

Winner of the 2014 Diamond Anniversary Book Award Finalist for the 2014 National Communications Association Critical and Cultural Studies Division Book of the Year Award In 2000, the National Human Genome Research Institute announced the completion of a "draft" of the human genome, the sequence information of nearly all 3 billion base pairs of DNA. Since then, interest in the hereditary basis of disease has increased considerably. In The Material Gene, Kelly E. Happe considers the broad implications of this development by treating "heredity" as both a scientific and political concept. Beginning with the argument that eugenics was an ideological project that recast the problems of industrialization as pathologies of gender, race, and class, the book traces the legacy of this ideology in contemporary practices of genomics. Delving into the discrete and often obscure epistemologies and discursive practices of genomic scientists, Happe maps the ways in which the hereditarian body, one that is also normatively gendered and racialized, is the new site whereby economic injustice, environmental pollution, racism, and sexism are implicitly reinterpreted as pathologies of genes and by extension, the bodies they inhabit. Comparing genomic approaches to medicine and public health with discourses of epidemiology, social movements, and humanistic theories of the body and society, The Material Gene reworks our common assumption of what might count as effective, just, and socially transformative notions of health and disease.