Clinical Molecular Medicine: Principles and Practice presents the latest scientific advances in molecular and cellular biology, including the development of new and effective drug and biological therapies and diagnostic methods. The book provides medical and biomedical students and researchers with a clear and clinically relevant understanding on the molecular basis of human disease. With an increased focus on new practice concepts, such as stratified, personalized and precision medicine, this book is a valuable and much-needed resource that unites the core principles of molecular biology with the latest and most promising genomic advances.

Darwin's Pangenesis and its Rediscovery Part B explores Darwin's Pangenesis, an expanded cell theory and unified theory of heredity and variation from over 150 years ago that strengthened his theory of evolution and explained many phenomena of life. Now, new discoveries on circulating DNA, mobile RNAs, prions and extracellular vesicles are providing striking evidence for the chemical existence of Darwin's imaginary gemmules. In addition, new evidence for the inheritance of acquired characters, graft hybridization, and many other phenomena that Pangenesis supposedly explains are progressing, and are hence explored in this comprehensive volume. Specific chapters in this new volume include Darwin and Mendel: The Historical Connection, Darwin's Pangenesis and Graft Hybridization, Darwin's Pangenesis and Medical Genetics, Darwin's Pangenesis and Certain Anomalous Phenomena, and Natural Selection and Pangenesis: The Darwinian Synthesis.

Darwin's Pangenesis and Its Rediscovery Part A highlights the findings of Darwin's Pangenesis, an expanded cell theory and unified theory of heredity and variation that strengthened his theory of evolution and explained many phenomena of life. Now, new advances and the discovery of circulating cell-free DNA, mobile RNAs, prions and extracellular vesicles are providing new breakthroughs, thus increasing evidence on the inheritance of acquired characters, graft hybridization, and many other phenomena that Pangenesis suggests. Sections of note in this volume include the rationale, criticisms, influence and recent molecular evidence of Darwin's Pangenesis, as well as its relation to the inheritance of acquired characters, which is often included under the blanket term "transgenerational epigenetic inheritance."

Genomics, Populations, and Society, a new volume in the Genomic and Precision Medicine in Clinical Practice series, considers the vast and thorny web of ELSI topics in genomics, from bioethics to healthcare applications, healthcare economics, genomic data management, and population dynamics. Emphasis is placed on the impact of rapid genomic advances on ethical, sociocultural and lifestyle dimensions. Healthcare and health economics topics include genomics and digital health, genome editing, and genomics and infectious disease management. Legal issues related to data ownership, equity, access, probity, consent, and confidentiality are also discussed in-depth, along with sociocultural topics such as community engagement, consanguinity, and more.Here, a range of readers from researchers to clinicians, policy administrators, lawyers, economists and social scientists will discover carefully crafted, synthesized discussions on ELSI topics in genomics to power new scientific advances and genomic medicine implementation.

Advances in Genetics, Volume 107, provides the latest information on the rapidly evolving field of genetics, presenting new medical breakthroughs that are occurring as a result of advances in our knowledge of the topic. The book continually publishes important reviews of the broadest interest to geneticists and their colleagues in affiliated disciplines, with this new release including chapters on Advances in Asthma Genetics: Filling persistent gaps, Nutritional control of postembryonic development progression and arrest in Caenorhabditis elegans, Genetic determinants of climate-resilience traits in millets, Founder variants and population genomes - towards precision medicine, and much more.

Advances in Genetics, Volume 104, provides the latest information on the rapidly evolving field of genetics, presenting new medical breakthroughs that are occurring as a result of advances in our knowledge of the topic. The book continually publishes important reviews of the broadest interest to geneticists and their colleagues in affiliated disciplines, critically analyzing future directions.

The Genomic and Molecular Cardiovascular Medicine largely focuses on pertinent genomic and molecular aspects of cardiovascular medicine relevant to all levels of clinical practice, from primary care to preventive healthcare. The book also focuses on practice applications of translational genomic and molecular developments and advances that impact on cardiovascular system structure and function. Each chapter is evidence-based and comprehensive, with in-depth, cutting-edge knowledge relevant to the practice of clinical cardiology and cardiovascular surgery. The book aims to fill a major gap of knowledge resource focused on genomic and molecular aspects of contemporary cardiovascular medicine and surgery practice. In view of scientific and technical complexities of the field, the book is written by a team of globally acknowledged experts in respective clinical, investigative, therapeutic and preventive aspects. The current practices within cardiovascular medicine and surgery offer excellent opportunity for genomic and molecular applications to achieve the high order effectiveness with maximum efficiency.

Genomic Medicine Skills and Competencies discusses core and practical aspects of genetic and genomic education and training for medical field. Many aspects of genomic applications in science, biotechnology, clinical medicine and healthcare require core and specialist knowledge, skills development and competencies for carrying out diverse tasks. Several knowledge-based courses and opportunities for skills and competencies development and assessment are now available and the main required subjects are discussed in this volume. The book focuses on all major aspects of genetic and genomic education training that are currently offered and evaluated and is a valuable resource for researchers, clinicians, physicians, nurses, genetic counselors, bioinformatics technicians, and other professionals who are interested in learning more about such promising field.

Advances in Genetics, Volume 108 provides the latest information on genetics, presenting new medical breakthroughs that are occurring as a result of advances in our knowledge of the topic. The book continually publishes important reviews of the broadest interest to geneticists and their colleagues in affiliated disciplines, with this new release including chapters on Clinical applications of cancer genetics and genomics, Epigenetic mutations in childhood tumors- the paradigm of Wilms tumor, Preventive population genomics-the model of BRCA related cancers, Recent advances of PARP inhibitors in medical oncology, Role of single cell and liquid biopsy in cancer research and clinical applications. Other chapters cover Recent advances and clinical utility of prostate cancer genomics, Recent advances in lung cancer genomics- applications in targeted therapy, and more.

The Indian subcontinent is a vast land mass inhabited by over one billion people. Its rich and varied history is reflected by its numerous racial and ethnic groups and its distinct religious, cultural and social characteristics. Like many developing countries in Asia, it is passing through both demographic and epidemiological transitions whereby, at least in some parts, the diseases of severe poverty are being replaced by those of Westemisation; obesity, diabetes, and heart disease, for example. Indeed, as we move into the new millennium India has become a land of opposites; on the one hand there is still extensive poverty yet, on the other hand, some of the most remarkable developments in commerce and technology in Asia are taking place, notably in the fields of information technology and biotechnology. India has always fascinated human geneticists and a considerable amount of work has been done towards tracing the origins of its different ethnic groups. In the current excitement generated by the human genome project and the molecular and genetic approach to the study of human disease, there is little doubt that this field will develop and flourish in India in the future. Although so far there are limited data about genetic diseases in India, enough is known already to suggest that this will be an extremely fruitful area of research.

Advances in Genetics, Volume 105, provides the latest information on the rapidly evolving field of genetics, presenting new medical breakthroughs that are occurring as a result of advances in our knowledge of the topic. The book continually publishes important reviews of the broadest interest to geneticists and their colleagues in affiliated disciplines, critically analyzing future directions.

An important milestone in medicine has been the recent completion of the Human Genome Project. The identification of 30,000 genes and their regulatory proteins provides the framework for understanding the metabolic basis of disease. This advance has also laid the foundation for a broad range of genomic tools that have opened the way for targeted genetic testing in a number of medical disorders. This book is designed to be the first major text to discuss genomics-based advances in disease susceptibility, diagnosis, prognostication, and prediction of treatment outcomes in various areas of medicine. After building a strong underpinning in the basic concepts of genomics, the authors of this book, all leaders in the field, proceed to discuss a wide range of clinical areas and the applications now afforded by genomic analysis.

Advances in Genetics, Volume 103, provides the latest information on the rapidly evolving field of genetics, presenting new medical breakthroughs that are occurring as a result of advances in our knowledge of the topic. The book continually publishes important reviews of the broadest interest to geneticists and their colleagues in affiliated disciplines, critically analyzing future directions.

Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine-in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management.

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.

Genomics and Society; Ethical, Legal-Cultural, and Socioeconomic Implications is the first book to address the vast and thorny web of ELSI topics identified as core priorities of the NHGRI in 2011. The work addresses fundamental issues of biosociety and bioeconomy as the revolution in biology moves from research lab to healthcare system. Of particular interest to healthcare practitioners, bioethicists, and health economists, and of tangential interest to the gamut of applied social scientists investigating the societal impact of new medical paradigms, the work describes a myriad of issues around consent, confidentiality, rights, patenting, regulation, and legality in the new era of genomic medicine.

The Indian subcontinent is a vast land mass inhabited by over one billion people. Its rich and varied history is reflected by its numerous racial and ethnic groups and its distinct religious, cultural and social characteristics. Like many developing countries in Asia, it is passing through both demographic and epidemiological transitions whereby, at least in some parts, the diseases of severe poverty are being replaced by those of Westemisation; obesity, diabetes, and heart disease, for example. Indeed, as we move into the new millennium India has become a land of opposites; on the one hand there is still extensive poverty yet, on the other hand, some of the most remarkable developments in commerce and technology in Asia are taking place, notably in the fields of information technology and biotechnology. India has always fascinated human geneticists and a considerable amount of work has been done towards tracing the origins of its different ethnic groups. In the current excitement generated by the human genome project and the molecular and genetic approach to the study of human disease, there is little doubt that this field will develop and flourish in India in the future. Although so far there are limited data about genetic diseases in India, enough is known already to suggest that this will be an extremely fruitful area of research.

Consisting of contributions from experts in all specialties of cardiovascular genetics and applied clinical cardiology, Principles and Practice of Clinical Cardiovascular Genetics serves as the comprehensive volume for any clinician or resident in cardiology and genetics. Each chapter provides a detailed and comprehensive account on the molecular genetics and clinical practice related to specific disorders or groups of disorders, including Marfan syndrome, thoracic and abdominal aortic aneurysms, hypertrophic, dilated and restrictive cardiomyopathies and Arrhythmogenic right ventricular cardiomyopathy, as well as many others. All sections comprehensively address cardiovasuclar genetic disorders, beginning with an introduction and including separate sections on the disease's basic biological aspects, specific genetic mechanisms or issues, clinical aspects, genetic management (e.g., genetic diagnosis, risk assessment, genetic counseling, genetic testing), and clinical management issues. The final section exclusively addresses the management of cardiovascular genetic disorders, specifically considering stem cell therapy, genetic counseling, pharmacogenomics and the social and ethical issues surrounding disease treatment.

Every year, thousands of people die or suffer chronic disability as the result of inherited diseases of the cardiovascular system. In many cases, diagnosis of inherited disease is delayed or missed owing to a lack of awareness, and an even greater number of relatives are exposed to unnecessary risk. This new edition of Inherited Cardiac Disease provides a comprehensive summary of the aetiology, presentation, and management of genetic disorders of the cardiovascular system. Fully updated to reflect the advances in molecular genetic technologies and the publication of national guidelines for the management of families with inherited cardiac diseases, it retains the first edition's broad scope and applicability to all members of the multidisciplinary team, from specialists in cardiology and clinical genetics, to genetic counsellors, paediatricians, nurse specialists, and GPs who may come into contact with families presenting with inherited cardiac diseases. Containing both a short section on the general principles of cardiovascular genetics, individual disorders are then examined in detail, each featuring a clinical summary, diagnostic tests and special investigations, and treatments relevant to each inherited cardiac disease. Written in the succinct bullet-point style of the Oxford Specialist Handbooks, this new edition of Inherited Cardiac Disease delivers key information in an accessible manner, and is an invaluable guide to anyone who works with patients who are affected by inherited diseases of the cardiovascular system in their practice.

Osteogenesis imperfecta (OI) is a disease encompassing a group of disorders mainly characterized by bone fragility and is the commonest form of heritable bone fragility. In this book, the clinical presentations with particular emphasis on rare phenotypes associated with OI are discussed together with molecular advances in diagnosis and treatment of OI. There is a broad spectrum of clinical severity in OI, ranging from multiple fractures in utero and perinatal death, to near-normal adult stature and low fracture incidence. Facial dysmorphism has been noted, but is not well described, nor is it an invariable feature. Sillence et al., in 1979, provided the clinical classification, which has been further expanded. Genetic defects in type 1 collagen can be identified in 85% of patients with a clinical diagnosis of OI, that is, mutations in COL1A1/COL1A2, which follows an autosomal dominant pattern of inheritance. Several genes have now been implicated in autosomal recessive forms of OI and X-linked osteoporosis. Given the possible antenatal presentation and prognosis associated with OI, it is important to make this diagnosis early and be able to distinguish this from other lethal skeletal dysplasias. It is also important to distinguish nonaccidental injury from a pathological cause of fractures, such as OI, and diagnose this promptly in these situations. However, this is not always possible due to variability in presentation and inability to pinpoint the precise genetic etiology despite extensive genetic testing. OI is one such rare genetic condition where treatment is available in the form of bisphosphonates, which has a huge impact on quality of life. Despite advances in medical therapy, multidisciplinary management including physiotherapy remains the mainstay of treatment and improved outcomes in OI.

The clinical syndrome of chronic heart failure (CHF) is the hallmark of progressive cardiac decompensation, one of the most common chronic medical conditions that affect around 2% of the adult population worldwide irrespective of ethnic and geographic origin (Anonymous). Apart from ischemic heart disease, hypertension, infection, and inflammation, several other etiologic factors account for irreparable and irreversible myocardial damage leading to heart failure (HF). Genetic and genomic factors are now increasingly identified as one of the leading underlying factors (Arab and Liu 2005). These factors may be related to pathogenic alterations (mutation or polymorphism) within specific cardiac genes, mutations in genes incorporating single or multiple molecular pathways (protein families) relevant to cardiac structure and/or function, genetic or genomic polymorphisms of uncertain significance (gene variants, single-nucleotide polymorphisms (SNPs), and copy number variations (CNVs)), and epigenetic or epigenomic changes that influence cardiac gene functions scattered across the human genome. Recent genetic and genomic studies in both systolic and diastolic ventricular dysfunction, the hallmark of CHF, have revealed a number of mutations in genes belonging to specific cardiac protein families. For example, around 200 mutations are now known to exist in around 15 genes coding for several different types of sarcomere proteins (Liew and Dzau 2004). The sarcomere protein family, alone, accounts for the bulk of inherited cardiomyopathies including hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), restrictive cardiomyopathy (RCM), and left ventricular (LV) non-compaction (LVNC). In addition, there are several other potentially relevant factors involving different genes and genome-level elements. This article presents a systematic account on the available factual information and interpretations based on genetic and genomic studies in CHF (Liew and Dzau 2004). Genomic and molecular approaches have opened the way for a renewed debate for taxonomy of CHF (Ashrafian and Watkins 2007). The review draws attention to the potential diagnostic and therapeutic implications of genomic and transcriptional profiling in HF and translational genomics research that is likely to permit greater personalization of prevention and treatment strategies to address the complexities of managing clinical HF (Creemers, Wilde et al. 2011).