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Human Evolutionary Genetics is a groundbreaking text which for the first time brings together molecular genetics and genomics to the study of the origins and movements of human populations. Starting with an overview of molecular genomics for the non-specialist (which can be a useful review for those with a more genetic background), the book shows h

This book is the definitive guide to cutting-edge research in genetic retinal diseases. This compilation brings together the collective wisdom of leading experts in the field, offering a comprehensive and up-to-date resource that is as enlightening as it is invaluable.The book focuses on next-generation sequencing, a revolutionary technology that has transformed our understanding of retinal diseases, and it delves deep into the intricacies of this rapidly evol.

This book presents comprehensive coverage of the RASopathies, one of the largest known recognizable patterns of malformation syndromes, affecting approximately 1 in 1,000 people. These syndromes include neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, Costello syndrome, cardio-facio-cutaneous syndrome, Legius syndrome, capillary malformation-arteriovenous malformation syndrome, SYNGAP1 syndrome and central conducting lymphatic anomalies. Noted physician and authority Katherine Rauen and an assembly of the top international experts present detailed discussions of both the science and clinical implications of these fascinating disorders. The major topics covered in this book include the syndromes and genes, the RAS pathway, phenotypic features, animal modeling and treatments. The book will appeal to a wide audience, including clinicians and basic scientists alike such as medical geneticists, genetics counsellors, oncologists, neurologists, cardiologists, dermatologists, behavioralists, orthopedists, ophthalmologists, neuroscientists, RAS biologists, and signal transductionists. This book is also intended for advocate leaders, trainees, and families with RASopathies.

This handy volume, that can also serve as an integration to the preceding work Cellular Primary Immunodeficiencies by the same editor, presents detailed state of the art knowledge on Severe Combined Immunodeficiency (SCID) with extensive coverage of both basic science discoveries and the latest clinical advances in the field. The book is structured according to the most recent classifications including update on the immunological synapse, as well as on bioinformatics in primary immunodeficiencies leading the reader towards the computational immunology era. Readers will also find in-depth descriptions of SCID genes and related clinical application, and aspects such as differential diagnosis, clinical management, and the role of vaccines are also addressed. The authors are recognized experts world-wide and have crafted their chapters to turn Severe Combined Immunodeficiency in a valued, compact update for immunologists, paediatricians, internists, rheumatologists, and infectious diseases specialists, that MDs and PhD students will find informative as well.

This book presents chromosome-wise clinical cases following an evidence-based protocol, in addition to providing the scientific background on the mechanisms of human ring chromosome (RC) formation. Presence of RCs in a genome can lead to several rare genetic diseases. This book, edited by the leading experts Prof. Peining Li and Prof. Thomas Liehr, is the first comprehensive book on this topic.Over the past 60 years, banding cytogenetics, fluorescence in situ hybridization, chromosome microarray analysis, and whole genome sequencing have been used to diagnose cases with a RC. Ring syndrome of sever growth retardation and variable intellectual disability has been considered a common clinical feature for all RCs. Clinical heterogeneity of chromosome-specific deletion and duplication syndromes, gene-related organ and tissue defects, cancer predisposition to different types of tumors, and reproduction failure has been reported in the literature. However, the cases of RCs reportedin the literature account for less than 1% of its real occurrence. Current diagnostic practice lacks laboratory standards for analyzing cellular behavior and genomic imbalances of RCs to evaluate its compound effects on patients. The under-representation of clinical cases and the lack of comprehensive diagnostic analysis make challenging to establish accurate clinico-cytogenomic correlations. Given recent advances in genomic technology and organized efforts from peer experts, standardized cytogenomic diagnosis and evidence-based clinical management could be envisioned for all patients with RCs.Furthermore, supernumerary small ring chromosomes and the patient's perspective are addressed—the latter by including family stories of RC-carrier relatives. Acquired RCs in various cancers are also discussed, as well as the potential role of RCs in research applications like iPSC cellular modeling and genomic editing.This book is a valuable reference for clinical geneticists, personnel in cytogenetics and molecular genetics laboratories, genetic counselors, and researchers in related fields.

The 5th World Congress on Genetics, Geriatrics, and Neurodegenerative Diseases Research (GeNeDis 2022) focuses on the latest major challenges in scientific research, new drug targets, the development of novel biomarkers, new imaging techniques, novel protocols for early diagnosis of neurodegenerative diseases, and several other scientific advances, with the aim of better, safer, and healthier aging. This volume focuses on the sessions from the conference on Neuroscientific Advances.

Genetic and genomic information has become far more accessible, and research using human genetic data has grown exponentially over the past decade. Genetics and genomics research is now being conducted by a wide range of investigators across disciplines, who often use population descriptors inconsistently and/or inappropriately to capture the complex patterns of continuous human genetic variation. In response to a request from the National Institutes of Health, the National Academies assembled an interdisciplinary committee of expert volunteers to conduct a study to review and assess existing methodologies, benefits, and challenges in using race, ethnicity, ancestry, and other population descriptors in genomics research. The resulting report focuses on understanding the current use of population descriptors in genomics research, examining best practices for researchers, and identifying processes for adopting best practices within the biomedical and scientific communities.

Genetic polymorphisms are important determinants of phenotypic variations and may modulate the risk to or even cause various diseases including genetic disorders and multifactorial diseases. Genetic polymorphisms also serve as important genetic, population and evolutionary markers that allow the study of genetic and evolutionary aspects of individuals, populations and organisms and aid in tracing the evolutionary and parental lineages. Genetic polymorphisms in low penetrance genes are responsible for the alterations in the gene expression of critical signal transduction proteins and metabolic enzymes. Some of these polymorphisms are linked to increased susceptibility to various diseases especially cancers, cardiovascular diseases, immune disorders, neurological pathologies. This book collates the reviews on the roles played by polymorphisms in critical metabolic, signal transduction, cell cycle or DNA repair genes either directly or indirectly in the disease mechanisms. The focus is on various techniques for identifying the various Single Nucleotide Polymorphisms (SNPs). Polymorphism studies document the affect SNPs, and their expressions have upon the functionality of the enzymes, proteins. Key Features Describes the genetic polymorphism and its various types Discusses the role of genetic polymorphisms in modulating the risk of various human diseases Explores various molecular techniques used for detecting GPs Characterizes the role of SNPs in modulating the susceptibility of human diseases Provides a genetic basis for individual variations in response to therapeutics

Clinical Ophthalmic Genetics and Genomics provides an accessible, clinically-focused reference for the evolving field of Genetic Ophthalmology. This well-organised, easy-to-read textbook integrates key concepts with clinical practice and is designed to enhance effective learning and retention of complex material. It includes contributions from recognised leaders in the field and provides expert guidance on the complete spectrum of genetic ophthalmic disorders. - A structured introductory section offering a practical guide to the processes involved in diagnosing patients with genetic ophthalmic disorders - Expert guidance on the complete spectrum of genetic ophthalmic disorders from leading international clinicians and researchers - Well-organised with streamlined, templated chapters and a user-friendly layout that provides quick access to clinically relevant information, and is designed to help ophthalmologists, geneticists, and genetic counsellors in the clinic room

The second volume of the Biomedical translational research discusses advancements in biomedical research for understanding the pathophysiology of various diseases towards improving diagnosis and treatment. It presents the integration of molecular-based technologies, clinical genomics, and medical informatics to improve diagnostic and treatment strategies. Further, the book reviews molecular genomics approaches for diagnosis and managing tuberculosis. It also covers the innovative strategies for cancer treatment through targeting metabolic pathways, tumor microenvironment, cancer stem cells, and immune cells. It also illuminates novel strategies for heart failure diagnosis and therapeutic approaches for the treatment of heart failure. It discusses improvements in translational research for discovery of new diagnostic tests, identifying novel biomarkers and drugable targets, and predicting optimal treatments based on understanding the underlying molecular basis of the disease. Lastly, it reviews the preclinical models of restenosis and their application and limitation in the evaluation of device-based interventional technologies for the treatment of coronary artery diseases.

This book is the output of Anthropological Survey of India's National Project'DNA Polymorphism of Contemporary Indian Population'conducted during 2000 to 2018. The book compiles the independent and collaborative work of 49 scientific personnel. Genomics facilitate the study of genetic constitution and diversity at individual and population levels. Genomic diversity explains susceptibility, predisposition and prolongation of diseases; personalized medicine and longevity; prehistoric demographic events, such as population bottleneck, expansion, admixture and natural selection. This book highlights the heterogeneous, genetically diverse population of India. It shows how the central geographic location of India, played a crucial role in historic and pre-historic human migrations, and in peopling different continents of the world. The book describes the massive task undertaken by AnSI to unearth genomic diversity of India populations, with the use of Uni-parental DNA markers mtDNA(mitochondrial DNA) and Y –chromosome in 75 communities. The book talks about the 61 maternal and 35 paternal lineages identified through these studies. It brings forth interesting, hitherto unknown findings such as shared mutations between certain communities. This volume is a milestone in scientific research to understand biological diversity of Indian people at genomic level. It addresses the basic priority to identify different genes underlying various inborn genetic defects and diseases specific to Indian populations. This would be highly interesting to population geneticists, historians, as well as anthropologists.

This book provides a detailed evidence-based overview of the latest developments in how the structure of the human genome is relevant to the health professional. It features comprehensive reviews of genome science including human chromosomal and mitochondrial DNA structure, protein-coding and noncoding genes, and the diverse classes of repeat elements of the human genome. These concepts are then built upon to provide context as to how they functionally relate to differences in phenotypic traits that can be observed in human populations. Guidance is also provided on how this information can be applied by the medical practitioner in day-to-day clinical practice. Human Genome Structure, Function and Clinical Considerations collates the latest developments in genome science and current methods for genome analysis that are relevant for the clinician, researcher and scientist who utilises precision medicine techniques and is an essential resource for any such practitioner.

Twentieth Century Mouse Genetics: A Historical and Scientific Review provides a comprehensive examination of key advances in mouse genetics throughout the 20th century. Here Dr. Robert P. Erickson, a leader in the field, identifies the contributions of historic mouse genetics studies, and how those approaches and early discoveries are still shaping human genetics research and medical genetics today. In addition to historical overviews, the author provides researcher biographies and updates connecting historic research to ongoing advances. Past studies discussed use the T/t complex as an example and include the origins of mouse genetics, the synthesis of genetics and evolution, cytogenetics and gene mapping, population genetics and mutation research, immunogenetics, reproductive genetics, molecular cloning, X-inactivation and epigenetics, sex determination, and pharmacogenetics. Here researchers, students, and clinicians will find fresh inspiration to engage in human genetics research employing mouse models and to translate those findings to clinical practice. - Offers a comprehensive examination of key advances in mouse genetics throughout the 20th century - Includes updates connecting historic research to ongoing advances - Authored by a thought-leader in the field

This two-volume set provides a general overview of the evolution of the human genome; The first volume overviews the human genome with descriptions of important gene groups. This second volume provides up-to-date, concise yet ample knowledge on the genome evolution of modern humans. It comprises twelve chapters divided into two parts discussing “Non-neutral Evolution on Human Genes” (Part I) and “Evolution of Modern Human Populations” (Part II.) The most significant feature of this book is the continent-wise discussion of modern human dispersal using human genomic data in Part II. Recent results such as introgression of paleogenomes to modern humans, new methods such as computer simulation of global human dispersals, and new information on genes for humanness will be of particular interest to the readers. Since the euchromatin regions of the human genome was sequenced in 2003, a huge number of research papers were published on modern human evolution for a variety ofpopulations. It is now time to summarize these achievements. This book stands out as the most comprehensive book on the modern human evolution, focusing on genomic points of view with a broad scope. Primary target audiences are researchers and graduate students in evolutionary biology.

This book discusses the role of genetic polymorphism in susceptibility to cancers. The book explores the understanding of differences between the genetic polymorphisms and mutations.It reviews the mechanisms underlying the effect of polymorphism in genes encoding proteins that play an essential role in metabolism, signal transduction, cell cycle, and DNA repair mechanisms. Further, it investigates various techniques that are used for analyzing the genetic polymorphisms. The book contains many chapters which summarize the importance of genetic information obtained from polymorphism-based pharmaco-genetic tests to predict better drug response and life-threatening adverse reactions to chemotherapeutic agents, help in understanding of the impact of SNPs on gene function, and gives overview of the different SNP databases for examination. This book, therefore, serves as an essential guidebook for independent researchers as well as institutions working in this specialised field.

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

Forensic DNA Analysis: Technological Development and Innovative Applications provides a fascinating overview of new and innovative technologies and current applications in forensic genetics. Edited by two forensic experts with many years of forensic crime experience with the Italian police and with prestigious academic universities, the volume takes an interdisciplinary perspective, the volume presents an introduction to genome polymorphisms, discusses, forensic genetic markers, presents a variety of new methods and techniques in forensic genetics, and looks at a selection of new technological innovations and inventions now available from commercial vendors. The book is an important resource for scientists, researchers, and other experts in the field who will find it of interest for its exhaustive discussion of the most important technological innovations in forensic genetics. For those newer to the field, the volume will be an invaluable reference guide to the forensic world.

Highly valued across the world by genetic counsellors, medical geneticists and other healthcare professionals, Harper's Practical Genetic Counselling has established itself over previous editions as the essential guide to counselling those at risk from inherited disorders.Fully revised by its new author Angus Clarke, and with additional input from colleagues, this eighth edition provides indispensable and up-to-date guidance, helping readers to navigate the profusion of new information in this area and the associated psychosocial and ethical considerations and concerns. Maintaining the trusted framework of earlier editions, the update presents the latest information on the use and interpretation of genetic test results, including new genomebased investigations and their application in the genetic counselling process. This book will help both the student and the practitioner, as genetic and genomic investigations become progressively more relevant to all healthcare professionals with the mainstreaming of genetics across the full range of medical practice.The eighth edition of this best-selling text will continue to be an essential source of reference for trainee and practitioner genetic counsellors and medical geneticists, for clinicians and nurses working in mainstream specialties who increasingly are dealing with the genetic aspects of disease, and for practitioners working in settings where referral to a genetics specialist is not readily available. It also provides invaluable background for other healthcare professionals, counsellors, social scientists, ethicists and genetics laboratory staff.

This unique, case-based guide provides a thoughtful and comprehensive overview of the genetic basis of male infertility for the practicing clinician. In addition to discussing the molecular foundations of sperm production and the consequences of genetic abnormalities on various stages of sperm development, it examines the clinical aspects of acknowledged genetic disorders and their implications on male fertility. In so doing, it offers the necessary tools required by the clinician for the diagnosis and treatment of infertile men with genetic abnormalities. Moreover, it provides essential algorithms that may aid in counseling patients in the clinic.The text is arranged in four thematic sections for easy reference. The genetic foundation of male reproduction is presented in part 1, including regulation of sperm production, the structure of sperm chromatin, and spermatogenesis. The impact of genetic abnormalities on male infertility is the subject of part 2,covering sperm defects, mitochondrial function and DNA fragmentation. The clinical case material in part 3 illustrates real-world examples of genetic etiologies and the current diagnostic and therapeutic strategies for conditions such as vas asplasia, cryptorchidism, immotile cilia syndrome, sperm aneuploidy and other challenging scenarios. Casting forward, the fourth and final section presents an overview of future possibilities for management of genetic causes of male infertility, including gene editing.Fully exploring the clinical context of these genetic conditions in a practical manner that appeals to the practicing clinician, Genetics of Male Infertility is an exciting and essential text for reproductive medicine specialists, andrologists, urologists, researchers and all other clinicians treating infertile patients.

Gene Environment Interactions: Nature and Nurture in the Twenty-first Century offers a rare, synergistic view of ongoing revelations in gene environment interaction studies, drawing together key themes from epigenetics, microbiomics, disease etiology, and toxicology to illuminate pathways for clinical translation and the paradigm shift towards precision medicine. Across eleven chapters, Dr. Smith discusses interactions with the environment, human adaptations to environmental stimuli, pathogen encounters across the centuries, epigenetic modulation of gene expression, transgenerational inheritance, the microbiome's intrinsic effects on human health, and the gene-environment etiology of cardiovascular, metabolic, psychiatric, behavioral and monogenic disorders. Later chapters illuminate how our new understanding of gene environment interactions are driving advances in precision medicine and novel treatments. In addition, the book's author shares strategies to support clinical translation of these scientific findings to improve heath literacy among the general population. - Offers a thorough, interdisciplinary discussion on recent revelations from gene environment interaction studies - Illuminates environmental factors affecting disease-gene etiology and treatment - Supports the clinical translation of gene environment interaction findings into novel therapeutics and precision medicine

The book deals with basic cellular and molecular mechanisms associated with aging. It comprehensively describes the important genetic, epigenetic, biochemical and metabolic regulations during aging, as well as some important age-related diseases.The book is divided into four major sections for easy understanding. It takes the readers through the various aspects of aging in a story-like manner. Certain interventions for healthy aging such as dietary restriction, regular exercise and maintaining a balanced and peaceful life-style are also suggested by the experts. The book would be a companion for both beginners, as well as established researchers in the field. It would be useful for science education, research, clinical approach and policy making.

Secondary Findings in Genomic Research offers a single, highly accessible resource on interpreting, managing and disclosing secondary findings in genomic research. With chapters written by experts in the field, this book is the first to concisely explain the ethical and practical issues raised by secondary genomics findings for a multi and interdisciplinary audience of genomic researchers, translational scientists, clinicians, medical students, genetic counselors, ethicists, legal experts and law students, public policy specialists and regulators. Contributors from Europe, North America, and Asia effectively synthesize perspectives from a spectrum of different scientific, societal, and global contexts, and offer pragmatic approaches to a range of topics, including oversight, governance and policy surrounding secondary genomic results, criteria for identifying results for return, communication and consent, stakeholders'attitudes and perspectives, disclosing results, and clinical, patient-centered protocols. - Thoroughly addresses the scientific, ethical, practical and clinical issues raised by secondary findings resulting from genomic research, including active debate and challenges in the field - Provides researchers, clinicians, regulators, and stakeholders with a holistic, interdisciplinary approach to interpreting, managing and disclosing secondary findings - Brings together expert analysis from scholars across Europe, North America, and Asia representing a wide variety of scientific and societal contexts

This thoroughly revised third edition provides a comprehensive grounding on hereditary heart diseases with special emphasis on the genetic aspects of these conditions. It continues to provide the expertise that all cardiologists, clinical and molecular geneticists, and related medical professionals require to provide optimal care for patients with cardiac disease of genetic origin and for their relatives. Topics covered include the different cardiomyopathies, the primary arrhythmia syndromes and the hereditary thoracic aortic disorders. In addition other topics such as cardiac involvement in hereditary neuromuscular diseases, the clinical policy for sudden cardiac death and the possibilities of pre-implantation genetic diagnosis are included to extend the discussion. Clinical Cardiogenetics compiles current knowledge on the topic in an easy to understand reference. It provides a practical clinical primer for cardiologists, clinical geneticists, trainees and other physicians involved in the management of these patients.

Bioinformatics is an integrative field of computer science, genetics, genomics, proteomics, and statistics, which has undoubtedly revolutionized the study of biology and medicine in past decades. It mainly assists in modeling, predicting and interpreting large multidimensional biological data by utilizing advanced computational methods. Despite its enormous potential, bioinformatics is not widely integrated into the academic curriculum as most life science students and researchers are still not equipped with the necessary knowledge to take advantage of this powerful tool. Hence, the primary purpose of our book is to supplement this unmet need by providing an easily accessible platform for students and researchers starting their career in life sciences. This book aims to avoid sophisticated computational algorithms and programming. Instead, it focuses on simple DIY analysis and interpretation of biological data with personal computers. Our belief is that once the beginners acquirethese basic skillsets, they will be able to handle most of the bioinformatics tools for their research work and to better understand their experimental outcomes.Our second title of this volume set In Silico Life Sciences: Medicine provides hands-on experience in analyzing high throughput molecular data for the diagnosis, prognosis, and treatment of monogenic or polygenic human diseases. The key concepts in this volume include risk factor assessment, genetic tests and result interpretation, personalized medicine, and drug discovery. This volume is expected to train readers in both single and multi-dimensional biological analysis using open data sets, and provides a unique learning experience through clinical scenarios and case studies.

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 detailed coverage in 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. This volume, Foundations, summarizes basic theories, concepts, research areas, and the history of medical genetics, providing a contextual framework for integrating genetics into medical practice. In this new edition, clinically oriented information is supported by full-color images and expanded sections on the foundations of genetic analytics, next generation sequencing, and therapeutics. 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 the health professionals and researchers. - Introduces genetic researchers, students, and health professionals to basic theories, concepts, research areas, and the history of medical genetics, offering a contextual framework for integrating genetics into medical practice - Completely revised and up-to-date, this new edition highlights traditional approaches and new developments in the field of medical genetics, including cancer genetics, genomic technologies, genome and exome sequencing, prenatal diagnosis, public health genetics, genetic counseling, and single-cell analysis for diagnosis - Includes color images supporting identification, concept illustration, and method processing - Features contributions by leading international researchers and practitioners of medical genetics

There are several types of damage that can be found in the male gamete. This book covers the genetic damage in spermatozoa that can originate during spermatogenesis, or during transit in both male and female genital tracts. Damage can also be due to ageing, environmental or iatrogenic conditions, as well as to the protocols to cryopreserve and to select spermatozoa in assisted reproduction techniques. The purpose of this book is to provide a comprehensive resource for all possible DNA damages in sperm, the relation to fertility and infertility, and possible transgenerational heritable effects.

The dark heart of race science… and why it's nonsense.Racial differences are rooted in biological reality, right? That's certainly what a small group of anthropologists, psychologists and pundits would have you believe. Portraying themselves as brave defenders of the inconvenient truth, this group took the revival of ‘race science'from alt-right online message boards into mainstream academic journals. They seek to justify raging social inequalities from poverty to incarceration rates with a simple message: some people are just born to be poor. There's just one problem… race science isn't real. The first Europeans had dark skin and black curly hair. Culture was born in Africa, not Western Europe. Gavin Evans examines the latest research on how intelligence develops and laying out new discoveries in genetics, palaeontology, archaeology and anthropology to unearth the truth about our shared past. Skin Deep stands up to the pseudo-science deployed to justify colonial rule, the apartheid regime and the vast inequalities that persist today. As race dominates the political agenda, it's time to put the hateful myths about it to bed.

Evolutionary science teaches that humans arose as a population, sharing common ancestors with other animals. Most readers of the book of Genesis in the past understood all humans descended from Adam and Eve, a couple specially created by God. These two teachings seem contradictory, but is that necessarily so? In the fractured conversation of human origins, can new insight guide us to solid ground in both science and theology?In The Genealogical Adam and Eve, S. Joshua Swamidass tests a scientific hypothesis: What if the traditional account is somehow true, with the origins of Adam and Eve taking place alongside evolution? Building on well-established but overlooked science, Swamidass explains how it's possible for Adam and Eve to be rightly identified as the ancestors of everyone. His analysis opens up new possibilities for understanding Adam and Eve, consistent both with current scientific consensus and with traditional readings of Scripture. These new possibilities open a conversation about what it means to be human.In this book, Swamidassuntangles several misunderstandings about the words human and ancestry, in both science and theologyexplains how genetic and genealogical ancestry are different, and how universal genealogical ancestry creates a new opportunity for rapprochementexplores implications of genealogical ancestry for the theology of the image of God, the fall, and people'outside the garden'Some think Adam and Eve are a myth. Some think evolution is a myth. Either way, the best available science opens up space to engage larger questions together. In this bold exploration, Swamidass charts a new way forward for peace between mainstream science and the Christian faith.

Most biological pathways, physical and neurological properties are highly conserved between humans and Drosophila and nearly 75% of human disease-causing genes have a functional homologue in Drosophila. This volume provides recent advances in Drosophila models for various human diseases, with each chapter providing a review of studies involving Drosophila models, as well as detailed protocols commonly used in laboratories. Starting with a review of Drosophila's value as a highly tractable model organism for studying human diseases, subsequent chapters present Drosophila models for specific human diseases. The book provides a useful resource for all scientists who are starting to use the Drosophila model in their studies, and for researchers working in the pharmaceutical industry and using new screening models to develop new medicines for various diseases.

This book gives an overview of the current knowledge on the most common neurodegenerative diseases, including Alzheimer's disease, frontotemporal lobar degeneration, Lewy body dementia,Parkinson's disease, amyotrophic lateral sclerosis, and additional less common neurodegenerative diseases. Both clinical and basic aspects of each disease are treated, including novel diagnostic criteria, old and new treatments, basic discoveries (genetics, epigenetics and molecular biology), and translation of basic research into biomarkers for early diagnosis, particularly to identify peripheral biomarkers. In addition, emerging data indicate that neurodegeneration seems to also be present in classically non-degenerative disorders. Therefore, a chapter about overlapping mechanisms between dementias and psychiatric disorders is included, as well as a description of the role of neurodegeneration in multiple sclerosis.Neurodegenerative Diseases is aimed at clinicians, particularly those workingin academic hospitals. This multidisciplinary book will also be of interest to basic researchers in medical fields.

Recent advances in genomic and omics analysis have triggered a revolution affecting nearly every field of medicine, including reproductive medicine, obstetrics, gynecology, andrology, and infertility treatment. Reproductomics: The –Omics Revolution and Its Impact on Human Reproductive Medicine demonstrates how various omics technologies are already aiding fertility specialists and clinicians in characterizing patients, counseling couples towards pregnancy success, informing embryo selection, and supporting many other positive outcomes. A diverse range of chapters from international experts examine the complex relationship between genomics, transcriptomics, proteomics, and metabolomics and their role in human reproduction, identifying molecular factors of clinical significance. With this book Editors Jaime Gosálvez and José A. Horcajadas have provided researchers and clinicians with a strong foundation for a new era of personalized reproductive medicine. - Thoroughly discusses how genomics and other omics approaches aid clinicians in various areas of reproductive medicine - Identifies specific genomic and molecular factors of translational value in treating infertility and analyzing patient data - Features chapter contributions by leading international experts

Molekulare Sport- und Leistungsphysiologie ist die Lehre der Genetik und Signaltransduktion im Kontext körperlicher Aktivität. Ihre grundlegenden Ansprüche liegen in der Erforschung des Einfluss der Genetik auf die sportliche Leistungsfähigkeit und der Anpassungsprozesse durch Bewegungs- oder Trainingsreize auf molekularer und zellulärer Ebene.Dieses Werk vermittelt Grundlagenwissen in Genetik, Molekular- und Zellbiologie, stellt molekulare Mechanismen in leistungsphysiologischen Systemen dar und verbindet sportmedizinische mit -wissenschaftlichen Aspekten der körperlichen Leistungsfähigkeit. Der Brückenschlag zwischen theoretischem Wissen und praktischer Umsetzung gelingt durch Einbindung methodischer Aspekte in die sog. „Tooltipps“.Das Buch richtet sich an Sportmediziner, Sportwissenschaftler und sonstige im sportmedizinischen oder -wissenschaftlichen Bereich tätigen Berufsgruppen und Studenten, die sich fundiertes Wissen über moderne Erkenntnisse der körperlichen Leistungsfähigkeit aneignen möchten.

Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the'unexplainable,'helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.

This volume discusses various aspects of mechanisms and methodologies of chromosome translocations, ranging from a historical and clinical overview of chromosome translocations to the rapid development of the next-generation sequencing technologies, which has dramatically increased our understanding of the spectrum of chromosome translocations in human diseases.The book also introduces the mechanistic studies on chromosome deletions and their implications in cancer, and discusses the mechanisms of regulating chromothripsis, a unique complex type of chromosome translocation.It is a valuable resource for students and researchers alike, providing insights into chromosome translocations and, potentially, other genomic aberrations involved in understanding and curing human diseases.

Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality. Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence Framework for Genetic Testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care.

This book presents the latest advances concerning the regulation of chromosome segregation during cell division by means of centromeres and kinetochores. The authors cover both state-of-the-art techniques and a range of species and model systems, shedding new light on the molecular mechanisms controlling the transmission of genetic material between cell divisions and from parent to offspring. The chapters cover five major areas related to the current study of centromeres and kinetochores: 1) their genetic and epigenetic features, 2) key breakthroughs at the molecular, proteomic, imaging and biochemical level, 3) the constitutive centromere proteins, 4) the role of centromere proteins in the physical process of chromosome segregation and its careful orchestration through elaborate regulation, and 5) intersections with reproductive biology, human health and disease, as well as chromosome evolution. The book offers an informative and provocative guide for newcomers as wellas those already acquainted with the field.

This book reviews the human genome from an evolutionary perspective. No such book has ever been published before, although there are many books on human genomes. There are two parts in this book: Overview of the Human Genome (Part I) and The Human Genome Viewed through Genes (Part II). In Part I, after a brief review of human evolution and the human genome (by Naruya Saitou), chapters on rubbish or junk DNA (by Dan Graur), GC content heterogeneity (by Satoshi Oota), protein coding and RNA coding genes (by Tadashi Imanishi), duplicated genes (by Takashi Kitano), recombinations (by Montanucci and Bertranpetit), and copy number variations including microsatellites (by Naoko Takezaki) are discussed. Readers can obtain various new insights on the human genome from this part. In Part II, genes in X and Y chromosomes (by Yoko Satta and others), HLA genes (by Timothy A. Jinam), opsin genes (by Shoji Kawamura and Amanda D. Melin), genes related to phenotypic variations (by RyosukeKimura), transcription factors (by Mahoko Takahashi and So Nakagawa), diabetes-related genes (by Ituro Inoue), disease genes in general (by Ituro Inoue and Hirofumi Nakaoka), and microbial genomes (by Chaochun Wei) are discussed. The human genome sequences were determined in 2004, and after more than 10 years we are now beginning to understand the human genome from an evolutionary point of view. This book furnishes readers with a good summary of current research in the field.

This book highlights selected current data and its relevance in the human health care system, offering a fundamental primer on genetics and human health.With the advent of new high-throughput technologies (for the whole genome including exome sequencing), the conventional focus on genetics and individual genes is now shifting toward the analysis of complex genes, gene-gene interactions and the association between genes and environment, including epigenetics. The rapidly changing scientific research landscape, with the ever-growing influx of data on one hand and emergence of newer and more complicated diseases on the other, has created a dilemma for researchers and caregivers, who are still hopeful that advances in genetics and genomics will provide avenues for the understanding, prevention and possible cure of human diseases. The book focuses on the interactions between genes and proteins at both the transcriptome and proteome levels, which in turn affect the human genome and health. Additionally, it covers the domain that must be explored in order to understand the gene-gene and protein-protein interactions that contribute to human health. The book offers a valuable guide for all students and researchers working in the area of molecular genetics and genomics.

This book offers a detailed overview of translational bioinformatics together with real-case applications. Translational bioinformatics integrates the areas of basic bioinformatics, clinical informatics, statistical genetics and informatics in order to further our understanding of the molecular basis of diseases. By analyzing voluminous amounts of molecular and clinical data, it also provides clinical information, which can then be applied. Filling the gap between clinic research and informatics, the book is a valuable resource for human geneticists, clinicians, health educators and policy makers, as well as graduate students majoring in biology, biostatistics, and bioinformatics.

Infertility affects more than one in ten couples worldwide and is related to highly heterogeneous pathologies sometimes only discernible in the germ line. Its complex etiology often, but not always, includes genetic factors besides anatomical defects, immunological interference, and environmental aspects. Nearly 30% of infertility cases are probably caused only by genetic defects. Thereby experimental animal knockout models convincingly show that infertility can be caused by single or multiple gene defects. Translating those basic research?ndings into clinical studies is challenging, leaving genetic causes for the vast majority of infertility patients unexplained. Nevertheless, a large number of candidate genes have been revealed by sophisticated molecular methods. This book provides a comprehensive overview on the subject of infertility written by the leading authorities in this field. It covers topics including basic biological, cytological, and molecular studies, as well as common and uncommon syndromes. It is a must-read for human geneticists, endocrinologists, epidemiologists, zoologists, and counsellors in human genetics, infertility, and assisted reproduction.

This book presents an investigation of language contact, focusing on Northwestern China. It breaks down the barrier between human sciences and natural sciences in order to reconsider the diversity of languages on the basis of the latest research findings from genetics, linguistics, and other domains, offering valuable insights into when and how the divergence of languages and genes began and language and gene admixture and replacement occurred. The book focuses on language evolution between the border of Gansu and Qinghai Province in China, but the research doesn't neglect the area beyond China's northern borders. Manchu, a dying language belonging to the Tungusic group, is also studied to enhance our understanding of language replacement. This work is the result of a four-year collaboration between teams of geneticists and linguists in France and China.

Clinical management and signs are the focus of this practical cardiogenetic reference for those who are involved in the care for cardiac patients with a genetic disease. With detailed discussion of the basic science of cardiogenetics in order to assist in the clinical understanding of the topic. The genetic causes of various cardiovascular diseases are explained in a concise clinical way that reinforces the current management doctrine in a practical manner. The authors will cover the principles of molecular genetics in general but also specific to cardiac diseases. They will discuss the etiology, pathogenesis, pathophysiology, clinical presentation, clinical diagnosis, molecular diagnosis and treatment of each cardiogenetic disease separately. Therapy advice, ICD indications, indications for and manner of further family investigation will all be covered, while each chapter will also contain take-home messages to reinforce the key points. The chapters reviewing the different diseases will each contain a table describing the genes involved in each. Each chapter will also contain specific illustrations, cumulatively giving a complete, practical review of each cardiogenetic disease separately. Special emphasis will be given to advice on how to diagnose and manage cardiogenetic diseases in clinical practice, which genes should be investigated and why, and the pros and cons of genetic testing. Guidelines for investigation in families with sudden cardiac death at young age will also be included. This book will be written for the general cardiologist and the clinical geneticist who is involved in cardiac patients and will provide answers to question such as: Which genes are involved and which mutations? What is the effect of the mutation at cellular level? Which genes should be tested and why? What is the value of a molecular diagnosis? Does it influence therapy? When should the first degree relatives be tested and in which way?

The use of genetics for the resolution of legal conflicts has recently been gaining a higher profile, largely as a result of scientific and technological advancements and the substantial broadening of applications. The theoretical framework underlying forensic genetics is the same irrespective of the materials and technology involved, however a great divide still exists in the manner and processes related to human and non-human analyses.This advanced handbook intends to overcome the historical barriers between the scientific fields of legal medicine, biodiversity and conservation, and food analysis by presenting a unifying, global perspective on the implications of genetic analyses on forensic affairs. This global perspective is presented in three parts: modes of inheritance and reproduction and taxonomic implications; current technological approaches and future perspectives; and a comprehensive systematization of the types of applications and organisms. Finally, a critical revision of the current investigative/expert systems and future perspectives is undertaken.This book provides a collection of international research, thereby constituting a reference platform for the forensic community and an advanced textbook for graduate students. It encompasses the theoretical bases of the field, and presents in the context of both perspectives of forensic action — probative and investigative — a comprehensive coverage of the current applications and technological state of the art.

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

This book presents a long-term study in genetic isolates of indigenous small ethnics of Dagestan, located in the North-East part of Caucasus in Russia. Dagestan is characterized by extreme cultural and linguistic differences in a small geographic area and contains 26 indigenous ethnic groups. According to archeological data these indigenous highland ethnics have been living in the same area for more than ten thousand years. Our long-term population-genetic study of Dagestan indigenous ethnic groups indicates their close relation to each other and suggests that they evolved from one common ancestral meta-population. Dagestan has an extremely high genetic diversity between ethnic populations and a low genetic diversity within them. Such genetic isolates are exceptional resources for the detection of susceptibility genes for complex diseases because of the reduction in genetic and clinical heterogeneity. The founder effect and gene drift in these primary isolates may have caused aggregation of specific haplotypes with limited numbers of pathogenic alleles and loci in some isolates relative to others. The book presents a study in four ethnically and demographically diverse genetic isolates with aggregation of schizophrenia that we ascertained within our Dagestan Genetic Heritage Research Project. The results obtained support the notion that mapping genes of any complex disease (e.g., schizophrenia) in demographically older genetic isolates may be more time and cost effective due to their high clinical and genetic homogeneity, in comparison with demographically younger isolates, especially with genetically heterogeneous outbred populations.

This book delineates the state of the art of the diagnosis and treatment of J wave syndromes, as well as where future research needs to be directed. It covers basic science, translational and clinical aspects of these syndromes. The authors are leading experts in their respective fields, who have contributed prominently to the literature concerning these topics.J wave syndromes are one of the hottest topics in cardiology today. Cardiac arrhythmias associated with Brugada syndrome (BrS) or an early repolarization (ER) pattern in the inferior or infero-lateral ECG leads are thought to be mechanistically linked to accentuation of transient outward current (Ito)-mediated J waves. Although BrS and ER syndrome (ERS) differ with respect to magnitude and lead location of abnormal J waves, they are thought to represent a continuous spectrum of phenotypic expression termed J wave syndromes. ERS is divided into three subtypes with the most severe, Type 3, displaying an ER pattern globally in the inferior, lateral and right precordial leads. BrS has been linked to mutations in 19 different genes, whereas ERS has been associated with mutations in 7 different genes.There is a great deal of confusion as to how to properly diagnose and treat the J wave syndromes as well as confusion about the underlying mechanisms. The demonstration of successful epicardial ablation of BrS has provided new therapeutic options for the management of this syndrome for which treatment alternatives are currently very limited, particularly in the case of electrical storms caused by otherwise uncontrollable recurrent VT/VF. An early repolarization pattern is observed in 2-5% of the US population. While it is clear that the vast majority of individuals exhibiting an ER pattern are not at risk for sudden cardiac death, the challenge moving forward is to identify those individuals who truly are at risk and to design safe and effective treatments.

Over 98% of the human genome contains non-coding DNA sequences. For many years molecular biologists referred to this component of the genome as the “junk” DNA since it does not code for any “useful” protein product. Over the last years this notion changed significantly as scientists discovered that a large part of this DNA contains various genomic elements that have important roles in cell physiology. Genomic elements such as non-coding RNAs, transposons, splicing RNAs, DNA repeats and others were shown to play a significant role in regulating gene expression. In addition, all these elements were implicated to contribute in the pathogenesis or progression of various human diseases. In this book, the editor will attempt to describe all these genomic elements that constitute the junk DNA of the genome. For every genomic element, the physiologic role in the organism, its role in evolution and any possible involvement in human diseases will be discussed. Additionally, interaction between these elements in normal or pathologic condition will be discussed. Since a large amount of new knowledge is generated daily in regards to these genomic elements, this book will attempt to combine all the information in a single publication that can serve as a reference for future studies. The first part will discuss RNA elements such as microRNAs, long non-coding RNAs, piRNAs and splicing RNAs. The second part of the book will deal with transposons, retrotransposons and DNA transposons. Finally the third part of the book will discuss DNA elements that include DNA repeats, conserved non-coding sequences, distal genomic elements, introns, pseudogenes, CpG islands and telomeres. For miRNAs and CNVs a separate chapter will be dedicated to their role in human diseases since an extensive amount of information exists about these two elements.

Written for non-experts, this volume introduces the mechanisms that underlie reticulate evolution. Chapters are either accompanied with glossaries that explain new terminology or timelines that position pioneering scholars and their major discoveries in their historical contexts. The contributing authors outline the history and original context of discovery of symbiosis, symbiogenesis, lateral gene transfer, hybridization or divergence with gene flow and infectious heredity. By applying key insights from the areas of molecular (phylo)genetics, microbiology, virology, ecology, systematics, immunology, epidemiology and computational science, they demonstrate how reticulate evolution impacts successful survival, fitness and speciation.Reticulate evolution brings forth a challenge to the standard Neo-Darwinian framework, which defines life as the outcome of bifurcation and ramification patterns brought forth by the vertical mechanism of natural selection. Reticulate evolution puts forward a pattern in the tree of life that is characterized by horizontal mergings and lineage crossings induced by symbiosis, symbiogenesis, lateral gene transfer, hybridization or divergence with gene flow and infective heredity, making the “tree of life” look more like a “web of life.” On an epistemological level, the various means by which hereditary material can be transferred horizontally challenges our classic notions of units and levels of evolution, fitness, modes of transmission, linearity, communities and biological individuality.The case studies presented examine topics including the origin of the eukaryotic cell and its organelles through symbiogenesis; the origin of algae through primary and secondary symbiosis and dinoflagellates through tertiary symbiosis; the superorganism and holobiont as units of evolution; how endosymbiosis induces speciation in multicellular life forms; transferrable and non-transferrable plasmids and how they symbiotically interact with their host; the means by which pro- and eukaryotic organisms transfer genes laterally (bacterial transformation, transduction and conjugation as well as transposons and other mobile genetic elements); hybridization and divergence with gene flow in sexually-reproducing individuals; current (human) microbiome and viriome studies that impact our knowledge concerning the evolution of organismal health and acquired immunity; and how symbiosis and symbiogenesis can be modelled in computational evolution.

The release of the complete version of the human genome sequence in 2003 has paved the way for defining gene function and genetic background for phenotypic variation in humans and allowed us to study the aging process in a new light. This new volume results from that research and focuses on the genetic and epigenetic process of aging. While the interpretation of the genome data is still in its initial stages, this new volume looks at the evolving understanding of molecular mechanisms involved in cellular processes, gene function associated with complex traits, epigenetic components involve in gene control and the creation of hypothesis-free genome-wide approaches. Longevity Genes: A Blueprint for Aging explores the genetic and genomic elements that can maintain a long life such as DNA damage mechanisms, epigenetics and the way we can use this knowledge to generate customized treatments. It touches on some of the multidisciplinary approaches as well as genomic-wide association technology used to analyze complex traits. This book describes the hunt for genes affecting complex traits using a high throughput technology, with adequate consideration for the selection of an appropriate population, applications of statistical genetics and computational biology, and most importantly, considering phenotype-genotype association studies. Longevity Genes provides coverage of not only established aspects of genetics and aging, but also new approaches and perceptions in this important area of research.

Latest generation sequencing revolutionizes the fields of cancer research and oncology. This follow-up volume focuses more extensively on single cell sequencing of cancer and trials in drug resistance. Another exciting feature is the bioinformatics tools given, that can be used on cancer genome studies. Scientists around the world are attempting to find the root cause of cancer. A reasonable cancer treatment plan and potential cure is more optimistic now with the unfolding of the cancer genome. The collective knowledge of how to leverage next generation sequencing in cancer research is paving the way. The important information provided in this volume will move the field forward in developing novel targeted cancer therapies.