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 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.

This book provides the latest information on the significance of zebrafish as an ideal model for researching the biomedical field, with references. This book also focused on the evidence of zebrafish as a model in cardiovascular, neurologic, psychiatric and metabolic research. In addition, the book also includes the research carried out on zebrafish in hepatic, renal, ophthalmic, and ENT related areas. Contributed chapters come from the most prominent laboratories working in this field, which provides a unique perspective on zebrafish models from a wide spectrum of the research community. In addition, the book offers a detailed analysis of the most current research in the area for specific zebrafish models including specific research in the area of skin disorders, endocrine diseases, nutritional disorders, gastrointestinal, hematological disorders and cancer. The compilation of chapters in the volume culminates into a comprehensive and definitive text on zebrafish and its suitability for modeling various diseases, providing a critical resource on the potential attributes of the zebrafish as a pharmacological model. In terms of scope, this book is a useful tool for young researchers, professors and pharmaceutical scientists for understanding the significance of zebrafish as an emerging pharmacological model that can significantly aid in the process of drug discovery and development.

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.

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.

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.

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.

Delivers complex information in an easy-to-read, step-by-step format. The genomic era encompasses the entire spectrum of DNA - all of the genes, and the interaction and inter-relationship of genes (genome) to the environment. Rapidly changing research has led to numerous advances in genetic testing, diagnosis, and treatments, and it is essential that APRNs be able to integrate genetic risk assessment into clinical care. This quick reference delivers complex information in an easy-to-read, step-by-step format with bitesize info boxes and bulleted information to provide the tools necessary to understand genetics/genomics and identify ""red flags"" that can appear in patient assessments. In an age of personalized and precision medicine, genetic risk assessment has never been more important. Genetics and Genomics in Nursing begins with an overview of genetics and the science behind inheritance. Chapters then break down the processes that make up risk assessment, and walk the reader through data collection and review, identification and calculation of risk, and patient communication. Finally, the last section of this text discusses special populations and key facts nurses need to know about their risk assessment. Key Features: Provides a clear introduction to a complex topic Describes important elements of the genomic risk assessment process for use in clinical settings when evaluating patients Illustrates how to develop a three-generation pedigree Applies commonly-used standardized pedigree symbols and familial patterns to aid in risk interpretation Discusses the challenges and limitations of pedigree interpretation Explains common concepts and includes helpful genomic resources Incorporates genomic risk assessment into patient evaluation

Medicine has recently discovered spectacular tools for human enhancement. Yet to date, it has failed to use them well, in part because of ethical objections. Meanwhile, covert attempts flourish to enhance with steroids, mind-enhancing drugs, and cosmetic surgery-all largely unstudied scientifically. The little success to date has been sporadic and financed privately. In How to Build a Better Human, prominent bioethicist Gregory E. Pence argues that people, if we are careful and ethical, can use genetics, biotechnology, and medicine to improve ourselves, and that we should publicly study what people are doing covertly. Pence believes that we need to transcend the two common frame stories of bioethics: bioconservative alarmism and uncritical enthusiasm, and that bioethics should become part of the solution-not the problem-in making better humans.

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 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. "

Biobanking, i.e. storage of biological samples or data emerging from such samples for diagnostic, therapeutic or research purposes, has been going on for decades. However, it is only since the mid 1990s that these activities have become the subject of considerable public attention, concern and debate. This shift in climate is due to several factors. The purpose of this book is to investigate some of the ethical, legal and social challenges raised by research biobanking in its different modern forms and formats. The issues raised by research biobanking in its modern form can be divided into four main clusters: how biological materials are entered into the bank; research biobanks as institutions; under what conditions researchers can access materials in the bank, and problems concerning ownership of biological materials and of intellectual property arising from such materials; and how the information is collected and stored, e.g. access-rights, disclosure, confidentiality, data security and data protection.

Bacterial Artificial Chromosomes, Second Edition expands upon the previous edition with current, detailed methods developed for working with BACs. Updated chapters included in this edition present fundamental techniques used for BAC construction and characterization, advanced procedures for introducing modifications, achieving gene expression from BAC vectors, applications of BACs in model organisms, and medical genetics and drug discovery. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step reproducible laboratory protocols, and tips to troubleshoot and avoid known pitfalls. Authoritative and cutting-edge, Bacterial Artificial Chromosomes, Second Edition seeks to aid scientists in advancing their research using these exciting BAC techniques and strategies.

This volume explores a broad range of different genotyping techniques. Genotyping: Methods and Protocols consists of chapters that cover numerous topics such as: an overview of multiplexed microsatellite analysis; High Resolution Melt analysis and TaqMan-based assays; in situ analysis of variants in single RNA molecules; the MassARRAY system and Molecular Inversion Probes; Pulsed Field Gel Electrophoresis, Paralogue Ratio Test, and Multiplex Ligation-Dependent Probe Amplification; long-range PCR combined with PacBio sequencing; Targeted Locus Amplification; Multilocus Sequence Typing and rapid SNP detection with pyrosequencing; and genotyping-by-sequencing for plant analysis. Finally, the volume concludes with a summary of pertinent points to describe genetic variation. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Thorough and practical, Genotyping: Methods and Protocols is a valuable resource for anyone interested in learning more about the diverse field of genotyping.

Anthony Killeen, MD, PhD, offers a comprehensive yet concise introduction to molecular pathology that encompasses both applied and theoretical knowledge. Writing in a very readable style, the author reviews the basic concepts of human molecular biology, explains the principles of the most commonly used analytical methods, and discusses the molecular principles that underlie both inherited diseases and acquired genetic abnormalities that lead to cancer. Using common viral infections as examples, the book applies these molecular methods to the detection of microbial pathogens. The growing importance of pharmacogenetics and identity testing in the clinical laboratory is also highlighted.

This book criticizes the suggestive implication of newer bioethics that we need a new ethical paradigm in order to handle with the innovations of medicine and biotechnology. It holds that these innovations have a suggestive character at all which is not relevant however in order to justify a paradigm shift in ethics. Especially the suggestions of reproduction, genetics, mercy killing and neuroscience reveal a misunderstanding about ethics. Moreover they show inevitably theological implications they actually like to avoid especially in secular ethics.

Taking us to the cutting edge of the new frontier of medicine, a visionary biotechnologist and a pathbreaking researcher show how we can optimize our health in ways that were previously unimaginable. We are on the cusp of a major transformation in healthcare—yet few people know it. At top hospitals and a few innovative health-tech startups, scientists are working closely with patients to dramatically extend their “healthspan”—the number of healthy years before disease sets in. In The Age of Scientific Wellness, two visionary leaders of this revolution in health take us on a thrilling journey to this new frontier of medicine. Today, most doctors wait for clinical symptoms to appear before they act, and the ten most commonly prescribed medications confer little or no benefit to most people taking them. Leroy Hood and Nathan Price argue that we must move beyond this reactive, hit-or-miss approach to usher in real precision health—a form of highly personalized care they call “scientific wellness.” Using information gleaned from our blood and genes and tapping into the data revolution made possible by AI, doctors can catch the onset of disease years before symptoms arise, revolutionizing prevention. Current applications have shown startling results: diabetes reversed, cancers eliminated, Alzheimer’s avoided, autoimmune conditions kept at bay. This is not a future fantasy: it is already happening, but only for a few patients and at high cost. It’s time to make this gold standard of care more widely available. Inspiring in its possibilities, radical in its conclusions, The Age of Scientific Wellness shares actionable insights to help you chart a course to a longer, healthier, and more fulfilling life.

Genetics is fundamental to hearing function, and an understanding of genetics enhances both auditory research and the clinical treatment of the hearing impaired. Approaches to the diagnosis and treatment of hearing impairment have developed from technological advances in genetic research. This volume covers gene expression, mutations, mapping and cloning, as well as mitochondrial and cellular genetics. Chapters are also included on the uses of mouse models, genetic epidemiology and genetic counseling specifically for hearing impairment. As a comprehensive review of the genetics of hearing, this book will interest hearing researchers, clinicians and genetic counselors.

The first comprehensive attempt to explore the issues raised by genetic counselling across cultures. It will be of interest to health professionals and to students and lecturers in the social, behavioural and political sciences and in genetics, medicine and nursing. The meaning and relevance of kinship and ethnicity in the context of genetic disease, cultural issues that have arisen in practice, including the influence of the lay public's beliefs about inheritance and the wider social and political context of genetics and genetic disease are all explored in depth.

This title reviews current knowledge of the mechanisms contributing to heart failure. Editor Richard Walsh and an internationally renowned team of contributors discuss key advances in molecular and cell biology, biochemistry, and pharmacology, focusing on advances that have a direct bearing on current clinical studies. It highlights developments across a broad range of disciplines, with in-depth coverage of each topic providing background and perspective on current literature. By setting new advances in a broader context, this text allows readers to compare different ideas and evaluate their importance in their own areas of research or clinical practice.

From the gene that causes people to age prematurely to the "bitter gene" that may spawn broccoli haters, this book explores a few of the more exotic locales on the human genome, highlighting some of the tragic and bizarre ways our bodies go wrong when genes fall prey to mutation and the curious ways in which genes have evolved for our survival. Lisa Seachrist Chiu offers here a smorgasbord of stories about rare and not so rare genetic quirks-the gene that makes some people smell like a fish, the Black Urine Gene, the Werewolf Gene, the Calico Cat Gene. We read about the Dracula Gene, a mutation in zebra fish that causes blood cells to explode on contact with light, and suites of genes that also influence behavior and physical characteristics. The Tangier Island Gene, first discovered after physicians discovered a boy with orange tonsils (scientists now realize that the child's odd condition comes from an inability to process cholesterol). And Wilson's Disease, a gene defect that fails to clear copper from the body, which can trigger schizophrenia and other neurological symptoms, and can be fatal if left untreated. On the plus side, we read about the Myostatin gene, a mutation which allows muscles to become much larger than usual and enhances strength-indeed, the mutations have produced beefier cows and at least one stronger human. And there is also the much-envied Cheeseburger Gene, which allows a lucky few to eat virtually anything they want and remain razor thin. While fascinating us with stories of genetic peculiarities, Chiu also manages to explain much cutting-edge research in modern genetics, resulting in a book that is both informative and entertaining. It is a must read for everyone who loves popular science or is curious about the human body.