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The Human Genome Project, discoveries in molecular biology, and new reproductive technologies have advanced our understanding of how genetic science may be used to treat persons with genetic disorders. Greater knowledge may also make possible genetic interventions to'enhance'normal human characteristics, such as height, hair or eye color, strength, or memory, as well as the transmittal of such modifications to future generations. The prospect of inheritable genetic modifications, or IGMs, whether for therapeutic or enhancement purposes, raises complex scientific, ethical, and regulatory issues. Designing Our Descendants presents twenty essays by physicians, scientists, philosophers, theologians, lawyers, and policy analysts addressing these issues from diverse perspectives. In three sections, the authors discuss the short- and long-term scientific feasibility of IGM technology; ethical and religious issues related to safety, justice, morality, reproductive rights, and enhancement; and regulatory issues including the necessity of public input and oversight and the influence of commercialization. Their goal is to open a dialogue engaging not only scholars and scientists but also government officials and concerned citizens. The authors conclude that while IGM cannot be carried out safely and responsibly on humans utilizing current methods, it is important to begin public discussion now to determine whether, and if so how, to proceed.

New developments in the study of environmental mutagens continue to evolve in this rapidly emerging field. In Volume 7 of Chemical Mutagens, we have focused on various new techniques for the detection of genetic damage in somatic cells and germ cells of mammals and the use of lower eukaryotic microorganisms to detect aneuploidy as well as other types of genetic damage. Attention has also been given to the role of in vitro metabolic activation as a mechanism for modifying the genetic effects of different environmental chemicals. In a chapter on compar­ ative mutagenesis, reaction kinetics and their relationship to the mu­ tagenic action of monofunctional alkylating agents in higher eukaryotic organisms are examined. In another chapter, the pharmacology and toxicology of nitrites and nitrates, which are in widespread distribution in the environment, are discussed in detail. The books in this series have provided a mechanism for the publication of many important new developments in the study of the genetic effects of environmental chemicals. This series was launched by Dr. Alexander Hollaender who, beginning in 1971, edited Volumes 1-4 and then coedited Volumes 5-7. The success of his lO-year effort with these volumes is another testimony to Dr. Hollaender's many contri­ butions to the field of environmental mutagenesis. As Dr.

This year we remember the 39th anniversary of the atomic bomb explo­ sions in Hiroshima and Nagasaki, which led to the exposure of thou­ sands of people to high doses of ionizing radiations. Nearly 18 years earlier, on the 15th of September, 1927, H. J. Muller presented his paper The Problem of Genic Modification at the Fifth International Congress of Genetics in Berlin, in which he brilliantly demonstrated the muta­ genic activity of X-rays. In 1928, K. H. Bauer formulated his mutation theory of the origin of cancer, and already in 1914, Th. Boveri speculat­ ed that tumor cells originate from an abnormal chromosomal comple­ ment. In the meantime we have learned that also nonionizing radiation and an immense number of environmental chemicals, both, man-made and naturally occurring, are mutagenic in a variety of test systems, in­ cluding human cells. In no case has it been shown unequivocally that physical or chemical mutagens have led to an elevation of the mutation rate in the germ cells of man, but in view of the huge body of experi­ mental data this seems to be a problem of detection. It can be expect­ ed that germ cell mutations are induced as a consequence of exposure to mutagens in man, as yet undetectable with the methods at hand. An uncontrolled addition of mutations to the human gene pool may well have unforeseen and catastrophic consequences in future genera­ tions for whom we should feel responsible.

For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics and genomics into medical practice. With detailed coverage in contributions from more than 250 of the world's most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the seventh edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome sequencing, public health genetics, and genetic counseling. Volumes 3–11 cover diagnosis, management, and treatment of both rare and common disorders in all organ systems. Students, medical providers, and researchers all benefit from the latest information about the role of the genome in health and disease. This comprehensive yet practical resource emphasizes theory and research fundamentals across the full spectrum of applications to medicine. In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to endocrine, skin, connective tissue and skeletal disorders, with emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods that make use of current genomic technologies and translational studies. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics, seventh edition, bridges the gap between high-level molecular genetics and genomics and practical application and serves as an invaluable clinical tool for the health professionals and researchers. - Thoroughly introduces genetic researchers, students, and healthcare professionals to the genetic and genomic bases of endocrinologic, dermatologic, connective tissue, and skeletal disorders - Includes color images supporting identification, concept illustration, and method processing - Features contributions by leading international researchers and specialist medical practitioners

The book covers the various cell signaling pathways responsible for prostate cancer progression, conventional therapies used for prostate cancer treatment, new emerging therapeutics, and challenges in the treatment of cancer patients. It describes the different molecular pathways responsible for prostate cancer progression to improve readers'knowledge about the role of signaling networks, and cellular and molecular aspects of prostate cancer progression. These topics include mechanisms responsible for prostate cancer malignancy with a focus on molecular pathways. It also discusses the current challenges in prostate cancer treatment such as drug resistance and immune evasion and introduces novel therapeutics such as gene therapy and nanotherapeutics for prostate cancer. This book is completely novel and unique and covers all aspects of prostate cancer progression and challenges in therapy while presenting solutions. Written by prestigious researchers around the world, this book will be interesting to researchers and practitioners, especially those working in urological cancers.

Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling illustrates the current scope of the practice of genetics for healthcare professionals, so they can understand principles applicable to genetic testing and consultation. Written by an authoritative well-balanced team, including experienced clinical geneticists, genetic counselors, and medical subspecialists, this book adopts an accessible, easy-to-follow format. Sections are dedicated to basic genetic principles; clinical genetic and genomic testing; prenatal, clinical and cancer genetic diagnosis and counseling; and ethical and social implications in genomic medicine. Over 100 illustrative cases examine a range of prenatal, pediatric and adult genetic conditions and testing, putting these concepts and approaches into practice. Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling is important for primary care providers, as patient care evolves in the current genomic-influenced world of precision medicine. - Clearly explains central concepts of genetic testing and genomic medicine for non-genetic physicians, healthcare providers, and trainees - Offers clear steps for clinical integration of genetic concepts, genomic technology, and interpretation of genetic test results approachable and relevant to clinical practice - Descriptive, applied case studies illustrate recommended genetic evaluation, counseling and management for a range of conditions throughout the lifetime

This manual covers all possible aspects of managing a child with differences in sex development, an entity easily missed by the unsuspecting clinician. Managing such children is challenging due to various processes (genetic, hormonal, environmental, chromosomal, and environmental) involved in developing gonads and brain imprinting. The entity of Gender dysphoria adds further to this complexity. With a global uproar caused by the cropping up of medicolegal issues concerning sex allotment and sex of rearing, a need is felt to know about the line of approach to address the problems of management of these children, which does not stop at medical and surgical treatment. Whereas many social and legal organizations are relentlessly working for the cause of such children, there is a lack of comprehensive literature on the round management of such children, which makes the book more of an essential addition to the existing reading material. Esteemed writers give all these aspects and explain lucidly with the help of tables, figures, and diagrams.

An incisive and contemporary discussion of epigenetic phenomena applied to human health and disease Epigenetics and Health: A Practical Guide delivers a thorough and insightful exploration of the basic principles of gene function, gene regulation, and gene expression. The author explains how epigenetic modifications alter gene expression and demonstrate the role played by environmental factors—including nutrition, exercise, toxins, and stress—in gene regulation, as well as their potential health consequences. The book presents current methods for analyzing epigenetic variation, including NGS applications and bioinformatic analysis. Readers will be encouraged to question, analyze, and critically appraise the literature on epigenetics to further develop their understanding. They'll also find: Explorations of epigenetic mechanisms, homeostasis, and the potential for manipulating the epigenome Practical discussions of methods for epigenetic analyses How to address cancer epigenetics, mental health epigenetics, and guidance on developing an epigenetics research project Epigenetics and Health: A Practical Guide will benefit practicing geneticists and medical geneticists seeking insights into epigenetic phenomena applied to human health and disease.

The book provides a concise, integrated view of DNA biology and biotechnology in various aspects, such as human health, food production, environmental sustainability, and industry development. It covers the evolution of DNA, genes, cancer, aging biology, and plant gene technology. The chapters delve into the evolution of DNA, cells, genes, and regulation and its influence on cancer, aging, and development. The book emphasizes modern DNA biotechnology, including plant gene technology, gene therapy, and synthetic biology, and highlights the relevance of DNA knowledge in addressing global challenges. It focuses on providing a contemporary understanding and the background of DNA biology, making it suitable for science and medicine programs or as an introduction to specialized DNA/biotechnology areas. The book targets academicians, researchers, and clinicians in related fields. It is also a valuable resource for anyone interested in understanding DNA and its applications in various fields.

This textbook illustrates the importance and significance of molecular genetic testing in reproductive disorders. The present book covers the genetic testing in various reproductive system anomalies, including disorders of sexual development, male infertility (Y deletions, autosomal mutations, sperm DNA fragmentation), female infertility (PCOS and POF), mitochondrial DNA testing for oocyte quality, recurrent pregnancy loss, pre-term birth, endometrial receptivity, prenatal genetic screening, reproductive carrier screening, preimplantation genetic screening, endometrial cancer, cervical cancer and other related reproductive health disorders. Microbiome testing and its contribution to genetic testing in reproductive medicine are also discussed. Genetic testing in some of these has already come into practice, genetic testing for others is established but not clinically practiced, and genetic testing for others is yet in infancy as there is only limited data available. For the disorderswhere sufficient genetic data to undertake genetic testing is not available, we have tried to put together the evidence for proposing such tests in the near future. Apart from this, the book also covers ethical, moral and technical challenges in genetic testing in reproductive medicine. The book aims to set up a standard with regard to genetic testing in the reproductive medicine field, encourage further data generation, and provide food for thought in the areas of lacunae. The book serves graduate students, researchers, clinicians, professors, and patients in the field of reproductive medicine.​

CRISPR-Cas-Based Genome Editing for Treating Human Diseases-Part A, Volume 208 represents CRISPR-Cas systems for genome editing. Currently, CRISPR-Cas systems are proven a key technology for targeted genome editing, which is acting as a simple, rapid, and cost-effective solution. CRISPR-Cas9 system is being used in microbial genome editing, mammalian genome editing, disease models, and more. It has shown potential in human disease treatment. However, it is not easy to find CRISPR-Cas systems genome editing in a single source.This volume offers CRISPR-Cas systems for human diseases, bacterial disease, gut microbiome editing, viral disease, protozoan disease, fungal disease, stem cell therapy, CRISPR in epigenetics, CRISPR in cancer, autoimmune and blood disorders. In addition, it highlights a number of aspects of the CRISPR-Cas systems that can help the basic understanding of students, researchers, clinicians, entrepreneurs, and stakeholders to perform their research with great interest. - Updares on CRISPR-Cas systems for human diseases, bacterial disease, gut microbiome editing, viral disease, protozoan disease and fungal disease - Discusses stem cell therapy, CRISPR in epigenetics, CRISPR in cancer, autoimmune and blood disorders - Includes commentary on CRISPR in autoimmune and blood disorders

The successful book of andrology now in a new edition! This book gives a complete, interdisciplinary overview of the central topics of andrology, infertility, hypogonadism, contraception and erectile dysfunction. It contains detailed information on the clinical practice of couple treatment, andrology-relevant gynecology and modern methods of assisted fertilization, psychological factors of infertility, endocrinology and reproductive functions of the aging man as well as on an important sub-area of ​​andrology, the male contribution to contraception. In addition, the relevant scientific foundations (including molecular biology and genetics) are also covered. Completely revised and updated according to the latest scientific research, the new edition represents a reference for andrology, which no doctor who deals with the topic can miss. For andrologists, practitioners and residents, urologists, dermatologists and internists who deal with the area of​​andrology and male reproductive medicine.

For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics and genomics into medical practice. With detailed coverage in contributions from more than 250 of the world's most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for students, health providers, and researchers involved in the care of patients with genetic conditions, and increasingly, all areas of health and disease. This comprehensive yet practical resource emphasizes theory and research fundamentals related to the applications of medical genetics and genomics across the full spectrum of inherited disorders and applications to medicine more broadly. In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to developmental disorders, as well as genetic conditions that affect hearing and vision. Here genetic researchers, students, and health professionals will find new and fully revised chapters on human developmental genetics, disorders affecting craniofacial development, chromosomal abnormalities, including aneuploidies and structural abnormalities, hereditary hearing impairment, and various genetic conditions of the eye. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics, Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers. - Thoroughly introduces genetic researchers, students, and healthcare professionals to the principles of human developmental genetics - Examines a wide range of developmental disorders, including craniofacial development as well as disorders affecting hearing and vision - Includes color images supporting identification, concept illustration, and method processing - Features contributions by leading international researchers and practitioners of medical genetics

This book presents a major research program on epigenetic mechanisms of cell programming and reprogramming. The program was launched by the National Natural Science Foundation of China during the 11th Five-Year Plan period, which was started in October 2008 and concluded at the end of 2016. It first summarizes the epigenetic research plans and the current situation of epigenetic research in China and the international frontier. With the application of interdisciplinary research methods, the book discusses the development trends of epigenetic research, such as mechanisms of establishment and maintenance of epigenetic information and epigenetic regulation on reproduction and development. It also presents a variety of research achievements. For example, the discovery of new epigenetic regulators and chromatin remodulaters and their biological functions and mechanisms are highlighted. Several regulation mechanisms of cell differentiation and trans-differentiation are discussed, especially the discovery of the key factors to promote the trans-differentiation of somatic cells to hepatocytes. In addition, this book puts forward some key academic fields with increasing importance, such as biochemistry, cell biology, and clinical medicine. Given its scope, the book is of interest to researchers who work in cell biology, biochemistry, structural biology, bioinformatics, clinical medicine, and other related fields.

Epigenetics in Health and Disease, Volume 198 in the Progress in Molecular Biology and Translational Science series, highlights new advances in the field, with this new volume presenting interesting chapters on Computational biology in epigenetics, Artificial intelligence and machine learning in epigenetics, CRISPR-dCas9 Systems for Epigenetic Editing for Therapeutic Applications, Epigenetics in heredity disease, Epigenetics in cancer development, diagnosis and therapy, Microbiota and epigenetics: health impact, Histone deacetylase (HDACs) Inhibitors: Clinical applications, Early epigenetic markers for precision medicine, Epigenetics of neurological diseases, Epigenetic Regulons in Alzheimer's disease, and Epigenetics in epilepsy. - Provides the authority and expertise of leading contributors from an international board of authors - Presents the latest release in the Progress in Molecular Biology and Translational Science series - Includes the latest information on Epigenetics in Health and Disease

The second edition of this textbook written for undergraduate students, graduate students and medical researchers, Genetics and Genomics in Medicine explains the science behind the uses of genetics and genomics in medicine today, and how it is being applied.Maintaining the features that made the first edition so popular, this second edition has been thoroughly updated in line with the latest developments in the field. DNA technologies are explained, with emphasis on the modern techniques that are revolutionizing the use of genetic information in medicine and indicating the role of genetics in common diseases. Epigenetics and non-coding RNA are covered in-depth as are genetic approaches to treatment and prevention, including pharmacogenomics, genetic testing, and personalized medicine. A dedicated chapter charts the latest insights into the molecular basis of cancers, cancer genomics and novel approaches to cancer detection. Coverage of genetic testing at the level of genes, chromosomes and genomes has been significantly expanded and updated. Extra prominence has been given to additional genomic analyses, ethical aspects, and novel therapeutic approaches. Various case studies illustrate selected clinical applications.Key Features Comprehensive and integrated account of how genetics and genomics affect the entire spectrum of human health and disease Exquisite artwork illuminates the key concepts and mechanisms Summary points at the end of each chapter help to consolidate learning For each chapter, an abundance of further reading to help provide the reader with direction for further study Inclusive online question bank to test understanding Standard boxes summarizing certain key principles in genetics Clinical boxes summarizing selected case studies, pathogenesis mechanisms or novel therapies for selected diseases This book is equally suited for newcomers to the field as well as for engineers and scientists that have basic knowledge in this field but are interested in obtaining more information about specific future applications..

This book provides a detailed overview of the latest developments in the rapidly evolving specialty of Neuro-Oncology arranged in approximately 500 questions arranged in multiple-choice and matching formats. It features insight into the latest World Health Organization classification of central nervous system tumors and molecular genetics with information on how to apply a range of intraoperative adjuncts. Guidance on the latest therapeutic techniques such as stem-cell and immunotherapy in clinical practice is also discussed. To assist the reader in developing a deep understanding of the topics, the questions in all chapters are accompanied by relevant explanations to reinforce the key points covered.Neuro-Oncology Explained Through Multiple Choice Questions is a practical and up-to-date resource on how to diagnose, treat and manage a variety of disorders related to neuro-oncology. Its clear, easy-to-follow format and recognition of critical concepts make it an important resource for neurosurgical and oncology trainees preparing for certification examinations and the more experienced practitioners seeking an overview of the latest developments within the field.Additional questions via app: Download the Springer Nature Flashcards app for free and use exclusive additional material to test your knowledge.

This book focuses on the current status of our understanding of RNA, a key biological molecule. The various RNAs covered are messenger RNA, ribosomal RNA, transfer RNA, noncoding RNAs, modified nucleosides, and RNA enzymes. The different chapters detail methods to investigate RNA structure and function, the chemistry of modified RNAs, and the latest advances in our understanding of the vast array of biological processes in which RNA is involved.RNA, in one form or another, touches almost everything in a cell. RNA has both structural and catalytic properties. RNA fulfills a broad range of functions. These molecules are no longer seen as passive elements transferring the genetic information from DNA into proteins but regulate the activity of genes during development, cellular differentiation, and changing environments. RNAs are involved in various aspects of cell physiology and disease development. Discoveries of RNA with unexpected diverse functions in healthy and diseased cells,such as the role of RNA as both the source and countermeasure to cancer or severe viral infection, stimulate new trends, passion, and solutions for molecular medicine.In this book, fundamental questions about the biochemical and genetic importance of RNA, how mRNAs are generated and used to produce proteins, how noncoding and catalytic RNAs mediate key cellular processes, how to determine RNA structure and how to apply RNA in treatment of diseases.This book is an essential resource for researches in academia and industry contributing to the development of new RNA therapeutics. The book is geared toward scientists from the graduate level on up and particularly appeals to active investigators in RNA biology, molecular biology, and biochemistry.

Human reproductive cloning aims to produce duplicates, i.e., people who are phenotypically and genetically identical to those already in existence. This might appear to actually threaten human dignity, because it calls into question our much-vaunted, precious uniqueness. This is precisely what this book sets out to explore: Whether, in what sense, and to what extent human reproductive cloning can threaten human uniqueness and dignity, particularly by either promoting or violating certain human rights or moral rights. ``This is a thorough, well-written and well-balanced account of the prospect of reproductive cloning for human beings. Even though the author reaches no final and definitive conclusion – indeed, precisely because he considers arguments on all sides and leaves his readers with further questions – it's a book that should be read by both scientists and decision makers.''(Stephen R. L. Clark, University of Liverpool) ``The idea of duplicating human beings by cloning or otherwise rarely fails to strike us as deeply irritating. This illuminating and well-written book offers guidance to everyone interested in exploring the reasons behind this obstinate intuition.''(Dieter Birnbacher, Heinrich-Heine-Universität Düsseldorf) ``Ethical debates directly address the most difficult and pressing questions. Evangelos Protopapadakis'book is the most telling example of this: frontal, thoroughly analytical, and provocative, a real exercise in philosophizing that engages the reader.''(Viorel Vizureanu, University of Bucharest)

Das Standardwerk der Andrologie - jetzt komplett aktualisiert! Das Buch gibt einen vollständigen, interdisziplinären Überblick aller Themen der Andrologie, u.a. · der Infertilität, · des Hypogonadismus, · der männlichen Kontrazeption, · der erektilen Dysfunktion und · der Varianten der sexuellen Differenzierung. Der Leser erhält detaillierte Informationen über · die Physiologie der Hoden- und Spermienfunktion · die Diagnostik und Therapie einschl. operativer Verfahren in der Andrologie · die klinische Praxis der Paarbehandlung, · relevante Fakten aus der Gynäkologie, · moderne Verfahren der assistierten Fertilisation · psychologische Faktoren der Sexualität und Infertilität · Umwelteinflüsse auf die Fertilität · Therapie mit Testosteron und Missbrauch · endokrinologische und reproduktive Funktionen des alternden Mannes. · Fertilitätsprotektion · rechtliche und ethische Grundlagen der Andrologie Zusätzlich werden die relevanten naturwissenschaftlichen Grundlagen – einschließlich Molekularbiologie und -genetik – abgedeckt. Komplett nach dem neuesten Stand der wissenschaftlichen Erkenntnis überarbeitet, aktualisiert und praxisorientiert ist der Nieschlag das Standardwerk der Andrologie, an dem keine Ärztin und kein Arzt, der sich mit dem Thema befasst, vorbeikommt. Für Andrologen und Teilnehmer der Zusatzbezeichnung'Andrologie', Urologen, Dermatologen und Internisten, die sich mit dem Gebiet Andrologie beschäftigen. Für Reproduktionsbiologen und Reproduktionsmediziner mit Interesse an der Paarbehandlung.

The Regulatory Genome in Adaptation, Evolution, Development, and Disease synthesizes insights from recent genomic and gene expression studies across organisms, from humans to plants, animals, and single cell life, exploring common roles gene regulation plays in adaptive evolution, developmental biology and susceptibility to disease. The book sheds light on gene regulation across evolutionary timelines, illuminating new areas of focus and future research. Chapters consider key elements in gene expression regulation, fundamentals of genomic alterations over time, and in response to environmental and local conditions, epigenetics in adaptive evolution, and adaptive gene regulation in healthy processes and developmental biology, and in disease biology. Throughout the book, a comparative approach is adopted across organisms to highlight common evolutionary themes and genome diversity revealed by recent sequencing and GWAS studies, as well as how this informs our understanding of human adaptive evolution. The book finishes by detailing how we can use this knowledge to impact disease outcomes and healthy human metabolism, development, and physiology. - Reviews key elements in the regulation of gene expression and modes of studying gene regulation across evolutionary timelines - Adopts a cross-species view, synthesizing recent sequencing and GWAS studies across organisms to draw out fresh meaning and highlight pathways for future research - Considers altered gene expression associated with developmental defects and disease, as well as healthy biology and physiology, and our adaptive response to disease influence

••Selected for Doody's Core Titles® 2024 in Clinical Genetics•• Human Reproductive and Prenatal Genetics, Second Edition provides application-driven coverage of key topics in human reproductive and prenatal genetics, including genetic control underlying the development of the reproductive tracts and gametogenesis, the genetics of fertilization and implantation, the genetic basis of female and male infertility, as well as genetic and epigenetic aspects of assisted reproduction. Also examined are the genetics and epigenetics of the placenta in normal and abnormal pregnancy, preimplantation genetic diagnosis and screening, and cutting-edge advances in noninvasive prenatal screening, prenatal genetic counseling, and bioethical and medicolegal aspects of relevance in the lab and clinic. This new edition has been fully revised to address new and evolving technologies in human reproductive genetics, with new chapters added on chromatin landscapes and sex determination, genetic alterations of placental development and preeclampsia, metabolism and inflammation in PCOS, pre-implantational genetic testing, maternal genetic disorders, bioethics, and future applications. - Features chapter contributions from leading international scientists and clinicians - Provides in-depth coverage of key topics in human reproductive and prenatal genetics, including genetic controls, fertilization, placental development, embryo implantation, in vitro culture of the human embryo for the study of post-implantation development, and more - Identifies how researchers and clinicians can implement the latest genetic, epigenetic, and –omics-based approaches - Includes all new chapters on evolving technologies and recent genetic discoveries of relevance to reproductive medicine

Takes the fear out of learning about genetics and genomics for the nursing professional With its focus on the basics of genetics and genomics in nursing practice, this Fast Facts resource is the first to fill the content gap in this important area. Its streamlined format—featuring bulleted, step-by-step information and brief paragraphs—disseminates key content that is presented simply and understandably. The book examines how genetics impacts families and the care they need, and provides nurses with the genomic knowledge to advocate for personalized patient and family care, and to improve patient outcomes. Following a discussion of the science and foundations of genetics and genomics, this resource addresses their impact on patient care and application in nursing practice. It covers the relationship of genetics and genomics to health, prevention, screening, diagnostics, prognostics, and selection and monitoring of treatment. Case studies demonstrate how genomic concepts are applied in practice, and underscore their implications for patients with cancer, cardiovascular disease, psychiatric disorders, and autoimmune deficiencies. End of chapter questions are designed to assess knowledge. Also included are online resources that examine the latest genetic/genomic advancements and their impact on nursing. Key Features: Simplifies difficult concepts for ease of understanding Explains the difference between genetic testing and genetic screening Discusses ethical, legal, and social concerns specific to genetics and genomics Describes the application of genetics and genomics in healthcare Explains how knowledge of genetics and genomics can guide healthcare decisions Helps nurse educators teach genomic content Educates nurses in using genetic advances to improve patient outcomes

This book provides acomprehensive overview of cell signalling pathways and morphogens in the genesis of brain tumours. It also explains the role of brain tumour stem cells in the brain tumour progression. It also elucidates the novel early biomarkers that can be utilized to diagnose brain tumours. It presents the basic developmental pathways and morphogens, including retinoic acid and TGF-b that promote brain tumorigenesis. The chapters illustrate the role of stem cells and stem cells mediated cell signalling pathways including, Sonic hedgehog, Notch, Wnt in the brain tumour growth. The chapters also emphasize the role of transcription factors, mainlyNanog, Sox, BMI1, HIF1 and Pax6 in the brain tumouriogensis. It highlights the role of NF-kb, Myc and neurotrophins in the brain tumour development. Finally, the book summarizes the potential early therapeutic targets and targeted drug discovery for brain tumours.

This book discusses the different regulatory pathways for Advanced Therapy Medicinal Products implemented by national agencies in North and South America, Europe and Asia and by international bodies in the effort of international harmonization.This book represents an update of the first edition, as it covers regulatory novelties and accumulated experience in the regions already addressed. In addition, this new edition offers a wider international perspective: new chapters are included covering Advanced Therapy Medicinal Products regulations in India, Malaysia, Spain and Thailand, the European Pharmacopoeia texts for gene therapy medicinal products as well as international harmonization programs. Each chapter, authored by experts from various regulatory bodies throughout the international community, walks the reader through the applications of nonclinical research to translational clinical research to licensure and therapeutic use of these innovative products. More specifically, each chapter offers insights into fundamental considerations that are essential for developers of Advanced Therapy Medicinal Products in the areas of product quality, pharmacology and toxicology, clinical trial design and HTA pathways, as well as pertinent ‘must-know'guidelines and regulations. Regulatory Aspects of Gene Therapy and Cell Therapy Products: a Global Perspective is part of the American Society of Gene & Cell Therapy sub-series of the highly successful Advances in Experimental Medicine and Biology series. It is essential reading for graduate students, clinicians, and researchers interested in gene and cell therapy and the regulation of pharmaceuticals.

••Selected for Doody's Core Titles® 2024 in Clinical Genetics••Epigenetics in Organ Specific Disorders, a new volume in the Translational Epigenetics series, provides a foundational overview and nuanced analysis of epigenetic gene regulation distinct to each organ type and organ specific disorders, fully elucidating the epigenetics pathways that promote and regulate disease. After a brief introduction, chapter authors compare epigenetic regulations across normal and disease conditions in different organ tissues, exploring similarities and contrasts. The role of epigenetic mechanisms in stem cells, cell-matrix interactions and cell proliferation, cell migration, cellular apoptosis, necrosis, pyknosis, tumor suppression, and immune responses across different organ types are examined in-depth.Organ specific epigenetic mechanisms and biomarkers of early use in developing drugs, which can selectively target the organ of interest, are also explored to enable new precision therapies. - Identifies unique epigenetic mechanisms that occur in normal and disease conditions in each organ, examining differences and similarities - Explores organ specific epigenetic mechanisms to enable drug discovery and development - Features chapter contributions from leading researchers in the field

Cancer is a major public health concern and one of the leading causes of death. There is no simple solution for this complex disease, therefore interdisciplinary approaches might help to find solutions to many unanswered questions and challenges about cancer. The rapid flow of interdisciplinary research in cancer during recent years has increased our understanding of the nature of cancers. Such interdisciplinary approaches could be helpful for both the diagnosis and the development of more effective therapeutic strategies.The “Interdisciplinary Cancer Research” series publishes comprehensive volumes on different cancers and presents the most updated and peer-reviewed articles on human cancers. Over the past decade, increased cancer research has greatly improved our understanding of the nature of cancerous cells which has led to the development of more effective therapeutic strategies to treat cancers. This interdisciplinary series is of special value to researchers and practitioners working on cell biology, immunology, hematology, biochemistry, genetics, oncology and related fields. This is the main concept of Cancer Immunology Project (CIP), which is a part of Universal Scientific Education and Research Network (USERN).

This book explores the importance of Single Nucleotide Polymorphisms (SNPs) in biomedical research. As SNP technologies have evolved from labor intensive, expensive, time-consuming processes to relatively inexpensive methods, SNP discovery has exploded. In terms of human biology, this research, particularly since the completion of the Human Genome Project, has provided a detailed understanding of evolutionary forces that have generated SNPs. It also has shown how SNPs shape human variation. The ability to inexpensively generate and analyze vast amounts of genetic data is poised to transform our understanding of human evolution and biology. “Single Nucleotide Polymorphisms” covers a broad survey of SNPs and their classification into synonymous and non-synonymous; the role of SNPs in human disease; case studies providing specific examples of synonymous and non-synonymous SNPs associated with human diseases or affecting therapeutic interventions; mechanisms by which synonymous mutations affect protein levels or protein folding which affect human physiology and response to therapy; and the role of SNPs in personalized medicine. Understanding what SNPs are, how they have been shaped is necessary for an increasingly expanding audience. This research will revolutionize the future of medicine. Chapter 4 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com. SNPs Ability to Influence Disease Risk: Breaking the Silence on Synonymous Mutations in Cancer'is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.

Now in its second edition, this book provides a state of the art overview on basic concepts of epigenetic epidemiology and a comprehensive review of the rapidly evolving field of human epigenetics.Epigenetics plays an important role in shaping who we are and contributes to our prospects of health and disease. Unlike our genetic inheritance, our epigenome is malleable throughout the lifecourse and is shaped by our environmental experiences. Population-based epidemiologic studies increasingly incorporate epigenetic components. These so called epigenome-wide association studies (EWAS) contribute substantially to our understanding of the relevance of epigenetic marks, such as DNA methylation, histone modification, and non-coding RNAs for disease causation.Written by leading experts in the field, the book opens with a comprehensive introduction of the principles of epigenetic epidemiology and discusses challenges in study design, analysis, and interpretation. It summarizesthe latest advances in epigenetic laboratory techniques, the influence of age and environmental factors on shaping the epigenome, the epigenetic clock, and the role of epigenetics in the developmental origins hypothesis. The final part focuses on epigenetic epidemiology of various health conditions such as imprinting disorders, cancer, infectious diseases, inflammation and rheumatoid arthritis, asthma, metabolic disorder and vascular disease, as well as neurodevelopmental and psychiatric disorders. Given its scope, Epigenetic Epidemiology is an indispensable resource for researchers working in the field of human epigenetics.

This book's aim is to study the mathematical and computational models to analyze the progress, prognosis, prevention, and panacea of breast cancer. The book discusses application of Markov chains and transient mappings, Charlie–Simpson numerical algorithm, models represented by nonlinear reaction–diffusion-type partial differential equations, and related techniques. The book also attempts to design mathematical model of targeted strategic treatments by using Skilled Killer Drugs (SKD1 and SKD2) to suggest the improvisation of future cancer treatments. Both graduate students and researchers of computational biology and oncologists will benefit by studying this book. Researchers of cancer studies and biological sciences will also find this work helpful.

This comprehensive, up-to-date reference work compiles the scientific research on the relationship between various forms of cancer and reactive oxygen species (ROS). It is well known that ROS play a key role in the various steps leading to malignancy, this includes increase in DNA mutation rates. The book brings together exciting reviews, written by leading experts all over the world. The book is divided into four broad sections. Each section describes the role of oxidative stress and underlying mechanisms and pathways, at various stages of cancer, including its role in carcinogenesis, cancer progression and metastasis. Further, the book describes how the reactive oxygen species (ROS) modulate gene expression and signal transduction pathways in cancer. The book discusses the ways to interfere with the cancer progression, and design of anti-cancer drugs. The book provides an integrated approach for better understanding of the development phases of oxidative stress-induced cancers, and mainly the current perspectives about mechanistic aspects of cancer initiation, progression and metastasis. It is a highly resourceful book and would be extremely important to clinicians, students and researchers in the field of cancer genetics, therapeutics and oncology.

This second edition is fully updated throughout and covers the emerging evidence that indicates that the Gadd45 family of proteins plays a unique and critical role as sensors of stress, including genotoxic, physiological, and oncogenic stress. It sheds light on the complex cellular stress response, encompassing myriad molecular pathways with a plethora of regulators and effectors.The GADD45 stress response genes encode small (18 kd) nuclear/cytoplasmic proteins. These genes are rapidly induced by a wide variety of endogenous and exogenous stress stimuli. Despite marked similarities, Gadd45 genes are regulated differentially and exhibit functional diversity. Gadd45 proteins respond to physiological and oncogenic stress, and are implicated in cell cycle arrest, DNA demethylation and repair, apoptosis, cell survival, genomic stability, and inflammation. The purpose of this book is to provide a comprehensive overview of the unique global role that Gadd45proteins play as stress sensors and the molecular pathways involved.

William Bateson brought the work of Mendel (and much more) to the attention of the English-speaking world. He commanded the biological sciences in the decades after Darwin's death in 1882. To understand these years we must first understand Bateson. Through examination of the life of a major contributor to the turn-of-the-nineteenth-century revolution in biology, the authors reconcile the genocentrism of George Williams and Richard Dawkins with the hierarchical thinking of Richard Goldschmidt and Stephen Jay Gould. Aided by Rebecca Saunders, Bateson invented much of the basic terminology of modern genetics and, when addressing Darwin's great problem – the origin of species, introduced the mysterious term'the residue.'While the first edition of this work (2008) related'residue'to relative concentrations of bases in DNA, the second edition reveals this as reflecting fundamental differences in short strings of bases. Thus, the book has come to represent not only Bateson's science and life, but also a revised history of the biosciences that is likely to be increasingly visited, both by scientists and by those who wish to fully understand contemporary debates on racial, eugenic and gender aspects of genetics. In a nutshell, the book describes what we, in modern terms, would call a'colossal intelligence failure.'Mendel handed it to us'on a plate'in 1865 when Bateson was only 4. It took 35 years to'join the dots'with Bateson a primary joiner. Shrugged off by many 20th century scientists as a freak'blip'in what was really an orderly advance, the Mendel episode was but one of a succession of such'blips.'Thus, a multiplicity of post-Mendelian'Mendels'emerge as the story of Bateson's life unfolds.Peter Harper in Human Genetics (2009):'This book puts the record straight and one is left with a feeling of admiration for Bateson as both a scientist and a man, and with no doubt that he, more than anyone else, was largely responsible for the rapid progress in modern genetics during the first decade of the twentieth century.'Michael J. Wade in Evolution (2009):'I strongly recommend this book for its information on an important central figure and for its bringing to life the several controversies at the origins of Genetics. It greatly illuminates the conceptual foundations of evolutionary genetics.'Elof Axel Carlson in Quarterly Review of Biology (2009):'This volume will be of enormous benefit to historians of science who like to follow how ideas are born or die and why participants of different sides of each controversy held such rigid views of their own work and saw little merit in their competitor's research.'Joel S. Schwartz in Choice (2009):'This work includes key events in Bateson's career and is strengthened by discussion of the rediscovery of Mendelian principles by early 20th-century geneticists. Its basic premise isthat Bateson was not merely one of the founders of genetics but played a pivotal role in the development of evolutionary biology by serving as the link between Victorian naturalists and early 20th-century biologists.'Amitabh Joshi in Journal of Genetics (2010):'There is much in this book that I was not aware of, despite a formal training in genetics and a strong amateur interest in the history of biology.… It is certainly a book that any serious student of either genetics or evolution would greatly benefit from reading.'

This 2nd edition of the book on DNA methyltransferases has been comprehensively updated to reflect many novel research findings regarding the structure, function, and technology of these enzymes that have emerged over the past 6 years.Like the previous edition, this 2nd edition explains the biochemical properties of DNA methyltransferases, describing their structures, mechanisms and biological roles in bacteria, humans and plants. It also discusses the biological processes of reading DNA methylation and the mechanisms of DNA demethylation. This volume highlights the newest findings on DNA methyltransferase inhibitors and their use in cancer therapy as well as the latest epigenome editing systems based on these enzymes. Overall, this 2nd edition comprehensively summarizes the current state of research in the field of DNA methylation and DNA methyltransferase and is essential reading for early career and advanced researchers in this exciting field.

Epigenetics refers to the study of changes in organisms that are caused by modifications of gene expression instead of alteration of the genetic code itself. This volume includes 30 chapters that explore epigenetics from a variety of perspectives, including the role of epigenetics in aging, cancers, fetal brain development, epilepsy, and more.

This book describes the biology, diagnosis, treatment and the latest research on anti-sperm antibody (ASA) and anti-zona pellucida antibody (AZPA) produced in some infertile patients. It summarizes ASA in both men and women, and presents new research to serve as a guideline for medical treatment, which currently varies considerably. It also discusses the recently identified target antigens of these antibodies, and the latest immunocontraceptive development projects. The book features chapters on AZPA explaining the biological structure and function of the zona pellucida, and describing the abnormality and the antibody. It also provides insights into their evolution, presenting the differences in taxonomy, mammalian physiological functions and the morphologically and immunologically unique human zona pellucida. Gamete Immunology is a valuable resource for researchers, and postdocs who are curious about new research on ASA and AZPA. It offers clinicians and embryologists who are interested in gamete immunology diverse perspectives as well as the basis for new ideas to treat the antibodies and develop contraceptive vaccinogens.

This highly illustrated textbook provides an essential overview on RNA architecture and function, it offers insights into the RNA basics and also explains novel RNA technologies, such as CRISPR-Cas and their applications. In addition, the mRNA based vaccine technology, which has long been tested, also before the COVID-19 pandemic, is discussed and students receive a basic understanding of this important medical application.The textbook is written by Prof. Grover in collaboration with her students and has an easily accessible style. The book provides a great tool for young researchers and students in biology, biomedical engineering or biochemistry, looking for a compact introduction or refresher work on RNA, including the newest findings and technologies. It is an ideal starter to learn about several RNA specific topics and to research them further.

Diagnostics and Gene Therapy for Human Genetic Disorders provides an integrative and comprehensive source of information blending classical human genetics with the human genome. It provides a multidisciplinary overview of Mendelian inheritance and multifactorial inheritance, genetic variations, polymorphisms, chromosomal, multifactorial, and mitochondrial disorders. PCR, electrophoresis, cytogenetics, prenatal, and HPLC based techniques applied for diagnosing genetic disorders are discussed with applications. Symptoms, etiology, diagnosis, treatment of 14 major and 5 minor genetic disorders are discussed in detail. Methods employed for the preparation of kits for the diagnosis of diseases are provided. The role of gene therapy in the amelioration of genetic disorders and the methodology employed are discussed. The success of gene therapy in controlling various disorders such as immune system disorders, neurodegenerative disorders, cardiovascular disorders, eye diseases, and cancer has been described along with type studies. Features: A blend of classical human genetics with molecular and genome-based applications Techniques applied for the diagnosis of genetic disorders Diagnostics of 19 genetic disorders including symptoms, etiology, diagnosis, and treatment Role of gene therapy in the amelioration of disorders Type studies describing the role of diagnostics in conserving the human health This book attempts to connect all the information about classical and modern human genetics, genetic disorders, and gene therapy to all types of diseases in one place. This work provides a comprehensive source of information that can serve as a reference book for scientific investigations and as a textbook for the graduate students.

Progress in Genomic Medicine: From Research to Clinical Application provides a careful synthesis of the foundations, current trends and translational challenges in genomic medicine, clarifying pathways forward and enabling genomic medicine research and implementation across clinical settings and treatment development. Sections address the history and growth of genetic medicine, with a discussion of key studies in syndrome delineations, inherited diseases, biochemical genetics, and chromosome abnormalities, overview clinical applications made possible through genomic advances, with chapters on DNA sequencing for clinical genetic diagnosis, genotype-phenotype correlations in individuals and across populations, new-born screening for treatable genetic disorders, and more. In addition, social, ethical and public health aspects of applying genomic technologies are included throughout. Here, Dr. Smith applies her experience and participation in the field, across its major milestones, to put current research, clinical advances, and ongoing questions in context. - Traces the development of the field of genomic medicine, exploring key scientific advances and recent steps forward in clinical translation - Considers the influence of genomic medicine on complex and monogenic pathology analysis, treatment plans and therapeutics - Ties recent research and clinical advances to their historical context

Each year, tens of millions of individuals in the U.S. suffer from neurological and psychiatric disorders including neurodegenerative diseases such as Alzheimer's Disease and Parkinson's Disease, and psychiatric disorders such as autism spectrum disorder, depression and schizophrenia. Treatments for these diseases are often completely lacking or only partially effective, due in large part to the difficulty of conducting brain research and the complexity of the brain itself. Researchers in recent years have developed new models to better represent and study the human brain. The three models considered in this report, all of which generate and use pluripotent stem cells from healthy individuals and patients, are human neural organoids, human neural transplants, and human-animal neural chimeras. The Emerging Field of Human Neural Organoids, Transplants, and Chimeras: Science, Ethics, and Governance reviews the status of research, considers its benefits and risks, discusses associated ethical issues, and considers governance mechanisms for this type of research.

Today, human genetics is for everyone. It is about variation more than about illnesses, and increasingly about the common rather than about the rare. Once an obscure science or an occasional explanation for an odd collection of symptoms, human genetics is now part of everyday conversation. By coming to know genetic backgrounds, people can control their environments in more healthy ways. Genetic knowledge is, therefore, both informative and empowering.

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, butwhere the clinical manifestations of these disorders are prevalent.

New Clinical Genetics continues to offer the most innovative case-based approach to investigation, diagnosis, and management in genomic medicine. New Clinical Genetics is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, clinical and nurse geneticists, and students studying healthcare courses allied to medicine. Readers love the integrated case-based approach which ties the science to real-life clinical scenarios to really aid understanding. Clinical genetics is a fast-moving field and there have been many advances in the few years since the previous edition was published. This 4th edition has been completely updated and revised to reflect new science, new techniques and new ways of thinking. Nowhere is this more clear than in the chapter discussing genetics services which is now significantly expanded to reflect the increasing role of genomic medicine and the use of multidisciplinary teams in the management of patients with genetic disorders. The unique case-based structure and format remains the same, but substantial new material has been added to cover: polygenic risk scores – now starting to become useful clinical service tools preimplantation diagnosis noninvasive prenatal diagnosis companion diagnostics for prescribed drugs liquid biopsies in cancer epigenetics and gene regulation the widespread use of next-generation sequencing as a routine diagnostic tool the checking of a patient's whole exome for the cause of their problem

••Selected for Doody's Core Titles® 2024 in Clinical Genetics•• Medical Epigenetics, Second Edition provides a comprehensive analysis of epigenetics in health management, across a broad spectrum of disease categories and specialties, and with a focus on human systems, epigenetic diseases that affect these systems, and evolving modes of epigenetic-based treatment. Here, more than 40 leading researchers examine how each human system is affected by epigenetic maladies, offering an all-in-one resource on medical epigenetics not only for those directly involved with health care, but investigators in life sciences, biotech companies, graduate students, and others who are interested in applied aspects of epigenetics. Incorporating both diagnostic and prognostic epigenetic approaches, this volume also fully supports the application of epigenetics in precision medicine. This second edition of Medical Epigenetics, a volume in the Translational Epigenetics series, has been fully revised to address recent advances in disease epigenetics and role of epigenetics in precision medicine, with all-new chapters on skin cancer epigenetics, network analysis in medical epigenetics, machine learning in epigenetic diseases, and clinical trials of epigenetics drugs. - Features chapters from leading researchers and clinicians dedicated to the burgeoning role of epigenetics in medical practice - Covers emerging topics, including twin epigenetics, as well as epigenetics of gastrointestinal disease, muscle disorders, endocrine disorders, ocular medicine, pediatric diseases, sports medicine, noncoding RNA therapeutics, pain management and regenerative medicine - Organized from system disorders to multi-system disorders that involve epigenetic aberrations - Examines the role of epigenetics in precision medicine

Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. - Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes - Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions - Explores opportunities for novel therapeutics - Features chapter contributions from leading researchers and clinicians

This book covers all forms of Congenital Adrenal Hyperplasia (CAH) and provides a comprehensive overview of accompanying reproductive problems. Affected individuals may exhibit low fecundability, infertility, recurrent miscarriages, painful sexual intercourse, sexual orientation changes, etc. If not diagnosed and treated properly, their children may also experience developmental disorders of the external genitalia. Depending on the defects in enzymes, severity of the mutations and residual enzymatic activities, the clinical presentation may differ from patient to patient. As these disorders are encountered relatively rarely, many cases are either undiagnosed or inappropriately treated. Given its scope, this book offers a valuable guide for gynecologists, endocrinologists, pediatricians, and professionals in reproductive medicine, as well as GPs, practicing physicians, medical students and residents.

This second edition focuses on the study of human interphase chromosomes and its relation to health and disease. Orchestrated organization and behavior of the human genome in interphase nuclei at chromosomal level has been repeatedly shown to play a significant role in almost all basic biological processes involved in the processing and inheritance of genetic information within and between species. Accordingly, post-genomic bioscience appeals to basic and applied studies of interphase nuclei genetics and genomics with special attention to interphase chromosome behavior in health and disease. Additionally, elucidating the role of interphase chromosome behavior during development, chromosome/DNA replication, DNA reparation opens new horizons for basic and applied bioscience Studies of interphase nuclei have an appreciable impact on different areas of biomedical sciences such as cell biology, neurobiology, cancer research, developmental biology, epigenetics, cytogenetics, and medical genetics, as a whole. Moreover, development of innovative and emergent technologies to analyze interphase nuclei are closely associated with application of these techniques in diagnostic and research practices to solve reproductive problems (including infertility and spontaneous abortions), to investigate congenital malformations (including those produced by aneuploidy and other chromosome abnormalities); genetic diseases (including cardiac, immune, neurological and psychiatric diseases), and cancer. This second edition serves as a source of updated valuable information and promising ideas for a wide audience of professionals in biomedicine including researchers, scientists, and healthcare professionals in human genetics, cytogenetics, and developmental biology.

For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. 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, the Seventh Edition of this classic reference 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 to complete its coverage of this growing field 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. In Metabolic Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetic basis of body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers. - Wholly revised and up-to-date, this volume thoroughly addresses medical genetics and genomics as applied to metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and treatment methods - Provides genetic researchers, students, and health professionals with up-to-date coverage on the genetic basis of a range of metabolic disorders, including body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others - Includes color images supporting identification, concept illustration, and method processing - Features contributions by leading international researchers and practitioners of medical genetics - A robust companion website offers lecture slides, image banks, and links to outside resources and articles to stay up-to-date on the latest developments in the field

This volume of the series Rare Diseases of the Immune System presents detailed state of the art knowledge on the cellular primary immunodeficiencies; it includes extensive coverage of both basic science discoveries and the latest clinical advances in the field. The book is structured in accordance with the most recent classification of PIDs and also covers updates on the T cell immunological synapse. Readers will find comprehensive, in-depth descriptions of novel cellular PID genes and related clinical applications, mucosal T cells, and the various clinical phenotypes of cellular PIDs. Cellular Primary Immunodeficiencies will be of high value for immunologists, pediatricians, rheumatologists, oncologists, internists, and infectious disease specialists and will also be informative for MD, Master and PhD students.

••Selected for Doody's Core Titles® 2024 in Clinical Genetics•• 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. - Fully revised and up-to-date, this new edition introduces genetic researchers, students and healthcare professionals to genomic technologies, testing and therapeutic applications - Examines key topics and developing methods within genomic testing and therapeutics, including single gene testing, whole genome and whole exome sequencing, gene therapy and genome editing, variant Interpretation and classification, and ethical aspects of applying genomic technologies - Includes color images that support the identification, concept illustration, and method of processing - Features contributions by leading international researchers and practitioners of medical genetics - Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field