Twin Research: Biology, Health, Epigenetics, and Psychology is a comprehensive, applied resource in twinning and twin studies that is grounded in the most impactful findings from twin research in recent years. While targeted to undergraduate and graduate students, this compendium will prove a valuable resource for scholars already familiar with twin studies, as well as those coming to the field for the first time. Here, more than forty experts across an array of disciplines examine twinning and twin research methodologies from the perspectives of biology, medicine, genetic and epigenetic influences, and neuroscience. Chapters provide clear instruction in both basic and advanced research methods, family and parenting aspects of twinning, twin studies as applied across various disease areas and medical specialties, genetic and epigenetic determinants of differentiation, and academic, neurological and cognitive development. The presentation of existing studies and methods instruction empowers students and researchers to apply twin-based research and advance new studies across a range of biomedical and behavioral fields, highlighting current research trends and future directions.

Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing, epigenetic study approaches, optical mapping/karyomapping, and CRISPR-cas9 applications for cytogenomics. The book's second half demonstrates recent applications of cytogenomic techniques, such as characterizing 3D chromosome structure across different tissue types and insights into multilayer organization of chromosomes, role of repetitive elements and noncoding RNAs in human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis. This book is an important reference source for researchers, students, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing, as well as genetic counselors, clinical laboratory geneticists, bioethicists, and fertility specialists.

Epigenetics and Reproductive Health, a new volume in the Translational Epigenetics series, provides a thorough overview and discussion of epigenetics in reproduction and implications for reproductive medicine. Twenty international researchers discuss epigenetic mechanisms operating during the formation of male and female gametes, fertilization and subsequent embryo and placental development, particularly in mammals and transgenerational epigenetic inheritance. This volume also addresses aberrant epigenetic changes influencing male and female infertility, pregnancy related disorders, and those potentially linked to therapeutic manipulations and assisted reproductive technologies. Emphasis is placed on identifying biomarkers for early detection of aberrant epigenetic mechanisms. Later chapters examine the possibility of correcting these epigenetic dysfunctions, as well as current challenges and next steps in research, enabling new translational discoveries and efforts towards developing therapeutics.

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.

The human pathogens Neisseria meningitidis and Neisseria gonorrhoeae are exquisitely adapted to life within the human mucosa, their only natural niche. N. meningitidis is the causative agent of rapidly transmissible meningitis and septic shock. Vaccines developed to control this pathogen can be rendered ineffective by the pathogen's ability to undergo antigenic variation. In contrast, there are no current vaccination prospects for N. gonorrhoeae, the causative agent of sexually transmitted gonorrhoea. Historically, infections caused by N. gonorrhoeae were treated with antibiotics. However, the recent advent of new strains with resistance to all known antibiotics is causing such treatment regimes to fail, necessitating the need for new and more effective control strategies. In this book, leading Neisseria authorities review the most important research on pathogenic Neisseria to provide a timely overview of the field. The topics covered include: the link between pathogenesis and important metabolic pathways * vaccine development * antibiotic resistance * transcriptomics of regulatory networks * regulatory small RNAs * interactions with neutrophils * advances in humanized mouse models. An essential guide for research scientists, advanced students, clinicians, and other professionals working with Neisseria, the book is a recommended text for all microbiology libraries.

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.

Although scientists recognize the role of epigenetic mechanisms in DNA damage response, the complex, mechanistic interplay between chromatin regulation and DNA repair is still poorly understood. Comprehending how these processes are connected in time and space and play out in developmental processes may reveal novel directions for new research and disease treatment. Epigenetics and DNA Damage, a new volume in the Translational Epigenetics series, offers a thorough grounding in the relationship between DNA Damage, epigenetic modifications, and chromatin regulation. Early chapters address the basic science of DNA damage and its association with various epigenetic mechanisms, including DNA methylation, post-translational histone modifications, histone variants, chromatin remodeling, miRNAs, and lncRNAs. This is followed by a close discussion of DNA damage and epigenetics in metabolism, aging, cellular differentiation, immune function, stem cell biology, and cancer, tying recent research to translational application in disease understanding. Later chapters examine possible epigenetic therapies combining DNA damage induction and epigenetic alteration, as well as instructive chapters on how to analyze DNA damage and epigenetic alterations in new research.

Secretory Proteins, Volume 133 in the Advances in Protein Chemistry and Structural Biology series highlights new advances in the field, including chapters on Proprotein Convertases regulate trafficking and maturation of key proteins within the secretory pathway, Secretory Proteins in Cancer Diagnosis, Senescent Cells and SASP in Cancer Microenvironment: new approaches in cancer therapy, Autophagy for secretory protein: Therapeutic targets in cancer, Secretory proteins and pathways of secretion of osteosarcoma, Monocyte secretory proteins as drug targets for arresting progression of atherosclerosis, The secretory phenotypes of envenomed cells: insights into venom cytotoxicity, Macromolecules for secretory pathway in SARS-CoV-2 infection, and much more. Other sections cover Exploring the role of secretory proteins in the human infectious diseases diagnosis and therapeutics, Secretory proteins in orchestration of microbial pathogenesis- the curious case of Staphylococcus aureus, Influence of pathological mutations in Aspartylglucosylamine Deaspartylase causing Aspartylglucosaminuria: an in silico approach, and Change in conformational dynamics of Lipase A secretory protein upon mutation causing Wolman disease.

Protein Interaction Networks, Volume 131 in the Advances in Protein Chemistry and Structural Biology series, highlights new advances in the field, with this new volume presenting interesting chapters written by an international board of authors.

Protein Design and Structure, Volume 130 in the Advances in Protein Chemistry and Structural Biology series, highlights new advances in the field, with this new volume presenting interesting chapters. Each chapter is written by an international board of authors.

Genomics in Biosecurity: Principles and Applications of Genomic Technologies in Expanded Biosecurity Concepts, in the Translational and Applied Genomics series, explains in definite and practical terms the applicability of genomic technologies in every aspect of biosecurity, from emergent diagnostics to bioterrorism, agroterrorism, next generation biowarfare, biosurveillance and risk assessment. This book offers an integrated discussion of genomics and GCBR (global catastrophic biological risks) events, considering both basic aspects of biosecurity genomics and application of genomic technologies to drive new solutions. Readers will find evidence-based strategies to apply genomics in disease and pathogen monitoring and diagnosis, and more. Social aspects of GCBR events and genomic biosecurity, such as issues of terrorism, policy ethics, and practice, are also considered in-depth.

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.

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.

In recent times, the boundary between living and non-living has been blurred by advances in genomics, cell biology, and molecular neuroscience, whereby humans are repaired, enhanced, or made anew. Scientists and physicians are now able to keep cells, organs, and bodies alive indefinitely and can return cells or DNA to our bodies and make new cells for the purpose of treating disease or growing new tissue. Meanwhile, transhuman technologies create illusions of immortality. Immortal: Our Cells, DNA, and Bodies synthesizes what we know about life and death from a genetic, molecular, and cellular perspective, demarcates limits of knowledge, and poses new questions. Award-winning researcher and writer David Goldman examines in-depth three keys to understanding the nature and continuity of life: 1) epigenetic (ephemeral) vs genetic (durable) transgenerational memory; 2) life's cellular nature, and the ability to make bodies from cells; and 3) the distinction between bodies and persons. Grounded in recent scientific evidence and real-life cases that test our historical understanding of life and death, Goldman probes the nature of molecular continuity in the face of mortal extinction, encompassing how changes to the DNA code can be both long-lasting and transgenerational, and the continuous nature of cellular and molecular information transmission. In tying these themes together, Immortal asks us to apply fresh scientific concepts to examine, for ourselves, the continuity of being in the face of mortality.

Enzymes - Mechanisms, Dynamics and Inhibition, Volume 122, the latest release in the Advances in Protein Chemistry and Structural Biology series, highlights new advances in the field, with this new volume presenting new and interesting chapters on the topics. Each chapter is written by an international board of authors.

Rigor and Reproducibility in Genetics and Genomics: Peer-reviewed, Published, Cited provides a full methodological and statistical overview for researchers, clinicians, students, and post-doctoral fellows conducting genetic and genomic research. Here, active geneticists, clinicians, and bioinformaticists offer practical solutions for a variety of challenges associated with several modern approaches in genetics and genomics, including genotyping, gene expression analysis, epigenetic analysis, GWAS, EWAS, genomic sequencing, and gene editing. Emphasis is placed on rigor and reproducibility throughout, with each section containing laboratory case-studies and classroom activities covering step-by-step protocols, best practices, and common pitfalls. Specific genetic and genomic technologies discussed include microarray analysis, DNA-seq, RNA-seq, Chip-Seq, methyl-seq, CRISPR gene editing, and CRISPR-based genetic analysis. Training exercises, supporting data, and in-depth discussions of rigor, reproducibility, and ethics in research together deliver a solid foundation in research standards for the next generation of genetic and genomic scientists.

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.

Sex, Gender, and Epigenetics: From Molecule to Bedside explores the complex interplay of sex and gender-based influences on gene expression via epigenetic mechanisms. The book provides an overview of the field and evidence gathered to-date that is followed by a discussion of epigenetic pathways by which biological sex and the impact of the environment collaborate to regulate genetic function. The book also analyzes the impact of ancestors' environmental experience on subsequent generations and describes the nature of sex-specific transmission of environmentally induced epigenetic modifications. Here, international leaders in the field discuss both sex-specific normal physiology and the experience of disease, with chapters dedicated to fetal programming, microbiome, cancer, bipolar disorder and schizophrenia, embryogenesis, and oocyte aging, among other topics.

DNA Repair, Volume 45 in The Enzymes series highlights new advances in the field, with this new volume presenting interesting chapters on DNA polymerase beta and other gap-filling enzymes in mammalian base excision repair, Translesion polymerases, mechanism and function, The Rev1-Pol? Mutasome: Structure and Interactions in Translesion Synthesis, Challenges for base excision repair enzymes: acquiring access to damaged DNA in chromatin Nucleotide excision repair, DNA damage recognition mechanisms in mammalian nucleotide excision repair, Advances in understanding DNA mismatch repair, and more.

Nonheme Iron Enzymes: Structures and Mechanisms, Volume 117, highlights new advances in the field, with this new volume presenting new and interesting chapters on the topics. Each chapter is written by an international board of authors.

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 has played in adaptive evolution, as well as in developmental biology and susceptibility to disease. Here, Moyra Smith, a celebrated researcher in the field, sheds light on common themes in gene regulation across evolutionary timelines, illuminating new areas of focus and pathways for future research. Early chapters consider key elements in gene expression regulation, fundamentals of genomic alterations over time and in response to environmental and local conditions, and the role of epigenetics in adaptive evolution, with later chapters considering the role of adaptive gene regulation in healthy processes and developmental biology, as well as 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.

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.

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.

Mechanisms of DNA Recombination and Genome Rearrangements: Intersection between Homologous Recombination, DNA Replication and DNA Repair, Volume 601, the latest release in the Methods in Enzymology series, continues the legacy of this premier serial with quality chapters authored by leaders in the field. Homologous genetic recombination remains the most enigmatic process in DNA metabolism. The molecular machines of recombination preserve the integrity of the genetic material in all organisms and generate genetic diversity in evolution. The same molecular machines that support genetic integrity by orchestrating accurate repair of the most deleterious DNA lesions, however, also promote survival of cancerous cells and emergence of radiation and chemotherapy resistance. This two-volume set offers a comprehensive set of cutting edge methods to study various aspects of homologous recombination and cellular processes that utilize the enzymatic machinery of recombination. The chapters are written by the leading researches and cover a broad range of topics from the basic molecular mechanisms of recombinational proteins and enzymes to emerging cellular techniques and drug discovery efforts.

Omics Technologies and Bio-Engineering: Towards Improving Quality of Life, Volume 2 is a unique reference that brings together multiple perspectives on omics research, providing in-depth analysis and insights from an international team of authors. The book delivers pivotal information that will inform and improve medical and biological research by helping readers gain more direct access to analytic data, an increased understanding on data evaluation, and a comprehensive picture on how to use omics data in molecular biology, biotechnology and human health care.