The book Gamete and Embryo-fetalOrigins of Adult Diseases introduces various diseases resulting from the abnormal gametogenesis and embryo development, which manifests as growth retardation, birth defects, or increased susceptibility to chronic metabolic diseases such as diabetes, cardiovascular disease and cancer in childhood and adult life, even fertility disorders and the risk of transgenerational transmission. Six common kinds of these diseases are discussed in separate chapters. The authors explore the connections between these diseases and epigenetic reprogramming, rapid cell differentiation and organ formation and environmental influences, including assisted reproductive technology and adverse intrauterine environments. With a summary of findings on the causes and progression of adult diseases at the phase of gametogenesis and embryo development, this book provides insights into the pathogenesis of disease and aids in the treatment and prevention of disease, meeting the requirement for improving the quality of the newborn population, and effectively preventing and curing major diseases at an early stage. This book offers new perspectives and will be an enlightening resource for obstetricians, paediatricians, epidemiologists, endocrinologists and sanitarians.

Editor He-Feng Huang, M.D., is Professor and President of Women s Hospital, School of Medicine, Zhejiang University, China. Editor Jian-Zhong Sheng, Ph.D., is Professor at the Department of Pathology & Pathophysiology, School of Medicine, Zhejiang University, China."

This volume focuses on challenging field in biomedicine that is the genetic control of central immune tolerance. It covers the thymus development, their cellular components and their respective function, the peculiar gene expression profiling (transcriptome) found in the medullary thymic epithelial cells (mTECs) that are implicated in the self-representation in the thymus, the Autoimmune regulator (Aire) gene, the mutations in this gene and manifestation of autoimmune diseases, and the role of cell-cell interactions within the thymus with implications in the negative selection (elimination) of nascent autoreactive T cells in preventing aggressive autoimmunity. The thymus gland is a lymphoid organ implicated in the maturation, differentiation and selection of T cells. This organ is gained more and more attention in different biomedical research labs worldwide due to its function that is associated with the control of immune homeostasis in the body, establishing the central immune tolerance and preventing the onset of autoimmune diseases.

The scope and significance of cytoplasmic inheritance has been the subject of one of the longest controversies in the history of genetics. In the first major book on the history of this subject, Jan Sapp analyses the persistent attempts of investigators of non-Mendelian inheritance to establish their claims, in the face of strong resistance from nucleo-centric geneticists and classical neo-Darwinians. A new perspective on the history of genetics is offered, as he explores the oppositions which have shaped theoretical thinking about heredity and evolution throughout the century: materialism/vitalism, reductionism/holism, preformation/epigenesis, neo-Darwinism/neo-Lamarckism, gradualism/saltationism.

The first edition of Genomics and Clinical Medicine provided an overview of genomics-based advances in disease susceptibility, diagnosis, and prediction of treatment outcomes in various areas of medicine. Since its publication, the science of genomics has made tremendous progress, and exciting new developments in biotechnology and bioinformatics have created possibilities that were inconceivable only a few years ago. This completely revised second edition of Genomic Medicine reflects the rapidly changing face of applied and translational genomics in the medical and health context and provides a comprehensive coverage of principles of genetics and genomics relevant to the practice of medicine. The first section lays foundation to the practice of genomic medicine. New chapters in this section include bioinformatics, proteomics, microbial genomics and genomic education. Detailed discussions of genetic/genomic testing and screening and the ethical, legal, and social issues (ELSI) crucially address genethics and genomethics in the practice of Genomic Medicine. The second section includes clinical practice oriented chapters highlighting genomic applications (array comparative genomic hybridization, exome genome sequencing and new generation generation sequencing) in clinical diagnosis of congenital developmental malformations, Mendelian genetic disorders, and complex cardiovascular, neuro-psychiatric, ophthalmic, dermatologic, inflammatory and pediatric disorders. Separate chapters discuss microbial genomics with emphasis on the role of genomics in targeted antimicrobial therapy and development of genomic class of new vaccines. New developments in gene/ cell-based somatic therapy, regenerative medicine and targeted molecular therapy are discussed in respective chapters. All chapters are thoroughly indexed and supported by a carefully compiled glossary relevant to genetic and genomic medicine.

This book demonstrates that a pandemic of coronary heart disease occurred in North America, western and northern Europe, and Australia and New Zealand from the 1930s to about 2000. At its peak it caused more deaths than any other disease. The book examines and compares trends in coronary heart disease mortality rates for individual countries. The most detailed analyses are for the United States, where mortality rates are examined for race, sex, and age groups and for geographic regions. Popular explanations for the rise and fall of coronary heart disease mortality rates are examined.

Long regarded as biological waste, the placenta is gaining momentum as a viable product for clinical use. Due to their unique properties, placental cells and derivatives show great promise in curing various diseases. Utilizing contributions from world-renowned experts, Placenta: The Tree of Life considers the therapeutic potential of these cells. It examines new stem cell-based strategies and highlights recent studies that advance the range of treatment for a number of illnesses. Emphasizing the potential research and therapeutic use of stem cells, the book discusses the development, structure, and functions of the human placenta. It introduces overall aspects of the immune system, explains some of the immune mechanisms during pregnancy, and shows the role of the placenta in these mechanisms. Current scientific research is presented that focuses on the mechanisms of action underlying the therapeutic benefit of cells isolated from different placental regions. An exhaustive examination, this pivotal work: Considers how perinatal cells may represent an important source for cell therapy approaches in the near future, in both human and veterinary medicine Describes the clinical potential of placenta-derived cells in regenerative medicine-specifically in neurological disorders, metabolic liver diseases, inflammatory diseases, and autoimmune diseases Explains how cells isolated from different placental tissues share basic properties Placenta: The Tree of Life summarizes the advantages of perinatal tissue as a source of cells with therapeutic potential and is designed for use in the study of genetics, stem cell science, placental function, reproductive biology, regenerative medicine, and related fields.

Stem cell research has been a problematic endeavour. For the past twenty years it has attracted moral controversies in both the public and the professional sphere. The research involves not only laboratories, clinics and people, but ethics, industries, jurisprudence, and markets. Today it contributes to the development of new therapies and affects increasingly many social arenas. The matrix approach introduced in this book offers a new understanding of this science in its relation to society. The contributions are multidisciplinary and intersectional, illustrating how agency and influence between science and society go both ways. Conceptually, this volume presents a situated and reflexive approach for philosophy and sociology of the life sciences. The practices that are part of stem cell research are dispersed, and the concepts that tie them together are tenuous; there are persistent problems with the validation of findings, and the ontology of the stem cell is elusive. The array of applications shapes a growing bioeconomy that is dependent on patient donations of tissues and embryos, consumers, and industrial support. In this volume it is argued that this research now denotes not a specific field but a flexible web of intersecting practices, discourses, and agencies. To capture significant parts of this complex reality, this book presents recent findings from researchers, who have studied in-depth aspects of this matrix of stem cell research. This volume presents state-of-the-art examinations from senior and junior scholars in disciplines from humanities and laboratory research to various social sciences, highlighting particular normative and epistemological intersections. The book will appeal to scholars as well as wider audiences interested in developments in life science and society interactions. The novel matrix approach and the accessible case studies make this an excellent resource for science and society courses.

This title includes a number of Open Access chapters. This book examines conserved pathways mediating cell cycle progression and cell polarity establishment. It includes examples of yeast, regulatory circuits, and feedback regulation, with emphasis on system-wide approaches. It also covers protein interaction networks and trait locus analysis and presents methods and challenges in comparative genomics analysis and evolutionary genetics.

This title includes a number of Open Access chapters. This new volume on gene expression and epigenetics discusses environmental effects related to specific gene expression. The book also shows methods for bioinformatic analysis of the epigenome. The book is broken into two sections: the first looks at eukaryotic DNA methylation and the second addresses how to integrate genomic medicine into clinical practice. The book includes chapters on these topics: * Gene expression in colon cancer tissue * Epigenetics in human acute kidney injury * Embryologically relevant candidate genes in MRKH patients * DNA methylation in common skeletal disorders * Causal relationships in genomics * Predicting severe asthma exacerbations in children * Epigenetic understanding of gene-environment interactions in psychiatric disorders

The book provides scope and knowledge on advanced techniques and its applications into the modern fields of biotechnology-genomics and proteomics. In this book, different genomics and proteomics technologies and principles are examined. The fundamental knowledge presented in this book opens up an entirely new way of approaching DNA chip technology, DNA array assembly, gene expression analysis, assessing changes in genomic DNA, structure-based functional genomics, protein networks, and so on. Topics in the book include: * Different gene products with a similar role in neuronal defense against oxidative * Gene-gene and gene-environment interactions in genetic epidemiology * Elucidation of proto-oncogene c-abl function with the use of mouse models and the disease model of chronic myeloid leukemia * Next-generation sequencing, microbiome evaluation, molecular microbiology, and their impact on human health * Proteomics and prostate cancer * RNA interference therapeutics * Molecular mechanisms of hepatitis C virus entry * Molecular phylogenetics for elucidation of evolutionary processes from biological data * The impact of transgenic crops on soil quality, microbial diversity, and plant-associated communities. * Biotechnological and genomic approaches for abiotic stress tolerance in crop plants The book will be valuable for biotechnology researchers and bioinformatics professionals and students in all fields of biotechnology and will serve to broaden their knowledge about these newer tools, techniques, innovations, and applications.

With Genetics Essentials: Concepts and Connections, Ben Pierce presents an approachable genetics text that focuses on major genetic concepts and how they connect, giving students a foothold in a complex subject. Similar in approach to Ben Pierce's popular and acclaimed Genetics: A Conceptual Approach, this streamlined text covers basic transmission, molecular, and population genetics in just 18 chapters, helping students uncover major concepts of genetics and make connections among those concepts as a way of gaining a richer understanding of the essentials of genetics. The new edition of Genetics Essentials is now supported in Achieve, Macmillan's new online learning platform. The new 5th edition continues this mission by expanding upon the powerful pedagogy and tools that have made this title so successful. New question types, more learning guidelines for students, and an updated art program round out a powerful text, and improvements to the online resources in our newest platform, Achieve, give students the conceptual and problem solving understanding they need for success. Achieve is Macmillan's new online learning platform that supports educators and students throughout the full range of instruction, including assets suitable for pre-class preparation, in-class active learning, and post-class study and assessment. The pairing of a powerful new platform with outstanding biology content provides an unrivaled learning experience.

Long non-coding RNAs (lncRNAs), tentatively defined as ncRNAs of more than two hundred nucleotides in length, are characterized by the complexity and diversity of their sequences and mechanisms of action. Based on genome-wide studies, more than 3,300 of them exist, but to date only the limited number of functional lncRNAs have been identified and characterized. Nonetheless, lncRNAs have emerged as key molecules involved in the control of transcriptional and posttranscriptional gene regulatory pathways. They take part in the recruitment of chromatin modifying complexes and regulate splicing, localization, stability and translation of the target mRNAs. This book provides an overview of the rapidly advancing field of long ncRNAs, describing the epigenetic and non-epigenetic mechanisms by which they regulate various biological functions in model systems, from yeast to mammals. The role of ncRNAs in sex chromosome dosage compensation in flies and mammals is described, as well as their role in centromere and telomere biology. Long non-coding RNAs involved in environmental stress response and development are presented and their mechanisms of action discussed.

This book is the proceedings of the Falk Symposium No.156 on ?Genetics in Liver Disease?, part of the XIII International Liver Week 2006 held in Freiburg, Germany, 7 October 2006. The first section covers the basic aspects of genetic diagnosis, pharmacogenetics, micro-arrays and their relevance for liver diseases, including viral hepatitis, hepatocellular carcinoma, and gallstone diseases. In the second section, the most important hereditary liver diseases are discussed, including haemchromatosis, Wilson disease, alpha-1-antitrypsin deficiency, porphyrias and cystic fibrosis. In the third section, the genetics of cholestatic and metabolic liver diseases as well as the current status of experimental and clinical studies of gene therapy for liver diseases and stem cell transplantation are presented. Each section starts with a State-of-the-Art Lecture which introduces the topic. In the tradition of the Falk Symposia, this book provides an exciting overview of the current developments in the field of genetics of liver diseases, their diagnosis, treatment and prevention, presented by an international array of outstanding scientists and clinicians.

This book offers a valuable contribution to contemporary legal literature, providing deep insights into the interface between law and genetics, highlighting emerging issues and providing meaningful solutions to current problems. It will be of interest to a broad readership, including academics, lawyers, policy makers and scholars engaged in interdisciplinary research. In the context of examining and analyzing the legal and social implications arising from the recent conjunction of biotechnology and intellectual property rights, the book particularly focuses on human genes and gene variations. Emphasis is placed on "patent law," as a considerable percentage of genetic inventions are covered by patents. The book presents a comparative and critical examination of patent laws and practices related to biotechnology patents in the United States, Canada, European Union and India, in order to gather the common issues and the differences between them. The international patent approach regarding biotechnology is also analyzed in light of the constant conflict between differentiation and harmonization of patent laws. The book highlights the potential gaps and uncertainties as to the scope of numerous terms such as invention, microorganisms, microbiological processes, and essential biological processes under TRIPS. Also analyzed are the social and policy implications of patents relating to genetic research tools and genetic testing. The intricacies involved in providing effective intellectual property protection to bioinformatics and genomic databases are also examined. Bearing in mind the collaborative nature of bioinformatics and genomic databases, the book evaluates the pros and cons of open biotechnology and assesses the implications of extending intellectual property rights to human genetic resources, before explaining the ownership puzzle concerning human genetic material used in genetic research.

The fields of rare diseases research and orphan products development continue to expand with more products in research and development status. In recent years, the role of the patient advocacy groups has evolved into a research partner with the academic research community and the bio-pharmaceutical industry. Unique approaches to research and development require epidemiological data not previously available to assist in protocol study design and patient recruitment for clinical trials required by regulatory agencies prior to approval for access by patents and practicing physicians.

This cutting-edge book brings advances in genetics, neurobiology, and psychopharmacology to the clinic to enhance treatment for neurodevelopmental disorders. Significant progress has been made in identifying the neurobiological mechanisms of several disorders and targeted treatments are modifying the outcome of these disorders. However, the ability to utilize this knowledge has not been summarized in one place for the practicing clinician. This book will fill that gap by providing the theoretical underpinnings and the latest advances in targeted treatments. Several neurodevelopmental disorders are reviewed in detail including clinical features and behavioral phenotypes, standard treatments and new targeted treatments based on the latest advances in neurobiology and the animal model studies that have lead to new treatments. The disorders covered include psychiatric disorders: schizophrenia, depression, autism and ADHD; single gene disorders including Tuberous Sclerosis, Fragile X Syndrome and fragile X- associated disorders, Angelman Syndrome, PKU, and Muscular Dystrophies; and complex genetic disorders such as Down syndrome. This book also highlights the commonalities across disorders and new genetic and molecular concepts in an easy to read format. This is a very exciting time for new targeted treatments and this volume is a landmark treatise on this new age of treatment.

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.

This edited reflects the current state of knowledge about the role of microRNAs in the formation and progression of solid tumours. The main focus lies on computational methods and applications, together with cutting edge experimental techniques that are used to approach all aspects of microRNA regulation in cancer. We are sure that the emergence of high-throughput quantitative techniques will make this integrative approach absolutely necessary in the near future. This book will be a resource for researchers starting out with cancer microRNA research, but is also intended for the experienced researcher who wants to incorporate concepts and tools from systems biology and bioinformatics into his work. Bioinformaticians and modellers are provided with a general perspective on microRNA biology in cancer, and the state-of-the-art in computational microRNA biology.

Insulin-like growth factors (IGFs), their binding proteins and their receptors play important roles in regulating growth, metabolism, proliferation and survival for many cells and tissues throughout lifespan in humans and other species. Circulating IGF1 is known to be an endocrine regulator, with metabolic effects related to, and partly convergent with, insulin signalling. IGF1 also mediates many of the growth promoting effects of GH, and there is an ongoing debate as to the relative contributions of endocrine-, vs locally-derived IGF1 for systemic growth. More recently however, it has become clear that IGFs may be key local growth and cellular survival factors for many different tissues, active from early in embryonic development, essential for normal maturation and growth during foetal life. IGFs continue to play important roles throughout adult life in many diverse processes such as tissue repair, cellular proliferation, tissue remodelling and metabolic regulation. IGF systems are tightly regulated; orderly control of cellular repair and metabolism is central to healthy ageing, whilst uncontrolled proliferation can lead to cancer.

The Short QT Syndrome (SQTS) is characterized by abbreviated QT intervals on the electrocardiogram, increased risk of cardiac arrhythmias and sudden death. Although several gene mutations have been identified in SQT patients, the role of these mutations in promoting arrhythmogenesis is still not completely understood. Consequently, this thesis employs multidisciplinary approaches to develop a 3D virtual heart, which is then used to elucidate how the short QT syndrome facilitates and maintains ventricular arrhythmias and to determine its effects on ventricular mechanical contraction. The findings in this thesis provide a comprehensive and mechanistic explanation for a number of gene mutations associated with potassium channels in terms of susceptibility to arrhythmia. The multiphysics models developed provide a powerful platform for identifying the root causes of various arrhythmias and investigating therapeutic interventions for these diseases.

The thesis was examined by Prof. Chris Huang of the University of Cambridge, the most authoritative figure in cardiac electrophysiology, who has described the work as outstanding. "

The study of carbonic anhydrase has spanned multiple generations of scientists. Carbonic anhydrase was first discovered in 1932 by Meldrum and Roughton. Inhibition by sulfanilamide was shown in 1940 by Mann and Keilin. Even Hans Krebs contributed to early studies with a paper in 1948 showing the relationship of 25 different sulfonamides to CA inhibition. It was he who pointed out the importance of both the charged and uncharged character of these compounds for physiological experiments. The field of study that focuses on carbonic anhydrase (CA) has exploded in recent years with the identification of new families and isoforms. The CAs are metalloenzymes which are comprised of 5 structurally different families: the alpha, beta, gamma, and delta, and epsilon classes. The alpha class is found primarily in animals with several isoforms associated with human disease. The beta CAs are expressed primarily in plants and are the most divergent. The gamma CAs are the most ancient. These are structurally related to the beta CAs, but have a mechanism more similar to the alpha CAs. The delta CAs are found in marine algae and diflagellates. The epsilon class is found in prokaryotes in which it is part of the carboxysome shell perhaps supplying RuBisCO with CO2 for carbon fixation. With the excitement surrounding the discovery of disease-related CAs, scientists have redoubled their efforts to better understand structure-function relationships, to design high affinity, isotype-specific inhibitors, and to delineate signaling systems that play regulatory roles over expression and activity. We have designed the book to cover basic information of mechanism, structure, and function of the CA families. The authors included in this book bring to light the newest data with regard to the role of CA in physiology and pathology, across phylums, and in unique environmental niches.

The book examines the social and cultural context of new genetic knowledge associated with breast cancer. It looks at how this knowledge and technologies are used and received in two contrasting social arenas - cancer genetic clinics and a breast cancer research charity.

The last decades of the past century have brought relentless progress in molecular genetics, opening dramatic opportunities for modifying human life by gene therapy or by cloning new human beings. In this frenzy of new discoveries the names of Cecile and Oskar Vogt, who one hundred years ago envisaged these developments and laid the foundation for modern, genetically oriented neuroscience, have been practically forgotten. This makes most timely the treatise by Igor Klatzo, who spent several years with the Vogts at their Brain Research Institute in the Black Forest, Germany, and then continued his brain research as the Chief of the Laboratory of Neuropathology and Neuroanatomical Sciences at the NIH in Bethesda, MD. Klatzo brings, in addition to the recognition of the Vogts' greatness in pioneering modern brain research, a lively picture of their personalities, which includes their struggles against the rigid rules of society, and political suppression, the latter associated with the risk of their lives.

This book presents up-to-date information on the origins of the Ashkenazic Jewish people from central and eastern Europe based on genetic research on modern and pre-modern populations. It focuses on the 129 maternal haplogroups that the author confirmed that Ashkenazim have acquired from distinct female ancestors who were indigenous to diverse lands that include Israel, Italy, Poland, Germany, North Africa, and China, revealing both their Israelite inheritance and the lasting legacy of conversions to Judaism. Genetic connections between Ashkenazic Jews and other Jewish populations, including Turkish Jews, Moroccan Jews, Tunisian Jews, Iranian Jews, and Cochin Jews, are indicated wherever they are known.

This book will provide an overview of basic epigenetic phenomena; interaction between epigenetic and genetic factors; and the influence of epigenetic factors on inheritance. Epigenetic states may contribute to the penetrance of genetic polymorphisms or mutations and thereby modify inheritance patterns. This may result in non Mendelian inheritance of genetic traits such as observed in common human disease. The relationship between epigenetics and genetics, however, has not been comprehensively summarized yet. The topic is being more and more appreciated lately due to considerable advances in genomic and epigenomic approaches to study the origins of human disease. The editors will focus not only on describing epigenetic characteristics, mechanisms and results, but also on how considerations of epigenetics can alter interpretation and analysis of risks for complex traits. This book will be a resource for those who have been working in human genetics or analysis of human genetic data and are studying the impact of epigenetics on inheritance. An overview will be given of the impacts of inter individual variation in epigenetic states from major changes (errors in genomic imprinting) that cause congenital developmental defects to subtle changes and their impact on complex traits. The editors will discuss the relationship between epigenetic changes and genetic changes in human disease. Several chapters will also focus on statistical analysis of epigenetics effects, either in human disease genetic studies, or in population genetics. "