Primary immunodeficiency diseases, first recognized 60 years ago, are inherited disorders that affect human adaptive and innate immunity. In most cases, affected individuals experience recurrent infections, but they may also suffer from autoimmune diseases and malignancies. This third edition of Primary Immunodeficiency Diseases provides readers with the historic and scientific background, clinical presentations, immunologic characteristics, and the molecular/genetic underpinnings of this rapidly enlarging class of diseases. With up-to-date diagnostic tools and therapeutic options - from prophylactic anti-infective measures to hematopoietic stem cell transplantation and gene therapy - this volume will remain an authoritative resource on this increasingly important area.

The Atlas of X-Linked Intellectual Disability Syndromes is a comprehensive and up-to-date summary of the clinically distinctive disorders caused by genes on the X chromosome. Clinical and laboratory data on 150 syndromes are presented in a concise and consistent manner. Each syndrome is defined and information is provided on somatic features, growth and development, neurological signs, cognitive performance, imaging and other laboratory findings, and when possible, the nature and localization of the responsible gene. Craniofacial and other somatic findings are extensively illustrated. A differential matrix accompanies each syndrome description to assist the reader in identifying other X-linked syndromes with overlapping features. Individual syndrome entries are supplemented with nineteen appendices that identify syndromes with common features and provide the location or mapping limits and function of the responsible genes. The authors have extensive experience in the clinical and laboratory delineation of X-linked intellectual disability. They have described new syndromes, regionally mapped disease loci on the X chromosome, and identified the genes responsible for X-linked syndromes.

Genetics is in all senses a family affair. The diagnosis of a genetic condition affects not only the patient and biological family members who may themselves be at risk, but also "family" more generally as support may be sought from those considered kin and who may or may not be at risk themselves. It is considered best practice in genetic consultations to explore who will be informed within the family when a genetic condition or risk is diagnosed, particularly when the health of other family members is at risk. There is little guidance or consensus on how to achieve the implicit goal of informed family members while respecting patient confidentiality, however. There is a need for practitioners to be aware of the dynamics of family communication and to have guidance about how they may sensitively facilitate communication about genetics within families.
This handbook facilitates the development of clinical practices relating to family communication about genetics. Relevant theories of family communication are summarized and related to a clinical genetics milieu and, from this, frameworks for practitioners are presented. A book of this nature is particularly timely as the completion of the Human Genome Project will result in an unprecedented amount of information about genetic constitution and health risks becoming available to individuals and their families. The presence of a potential genetic condition in a family is not a new phenomenon. However, the growth in testing for genetic conditions, common complex conditions and variants that may influence health as well as drug metabolism means that a greater number of individuals will face decisions about communicating this information to their relatives. Many health professionals in all levels of health care will be confronted with issues of responsibility and practice in family communication about genetic information as they become providers of this testing.

Rapid advances in high-throughput genome sequencing technologies foreshadow a near-future in which millions of individuals will gain affordable access to their complete genome sequence. This promises to offer unprecedented insights into the fundamental biological nature of ourselves and our species: where we came from, how we begin our lives, how we develop and grow, how we interact with our environment, how we get sick, how we get well, and how we age. Personal genomics is an essential component of the inevitable transition towards personalized health and medicine. As the medical establishment begins to explore and evaluate the role of personal genomics in health and medicine, both clinicians and patients alike will gain from becoming well versed in both the power and the pitfalls of personal genomic information. Furthermore, it is likely that all students of the biomedical sciences will soon be required to gain crucial understanding in the emerging field of personal genomics. Exploring Personal Genomics provides a novel, inquiry-based approach to the understanding and interpretation of the practical, medical, physiological, and societal aspects of personal genomic information. The material is presented in two parts: the first provides readers of all backgrounds with a fundamental understanding of the biology of human genomes, information on how to obtain and understand digital representations of personal genomic data, tools and techniques for exploring the personal genomics of ancestry and genealogy, discovery and interpretation of genetic trait associations, and the role of personal genomics in drug response. The second part offers more advanced readers an understanding of the science, tools, and techniques for investigating interactions between a personal genome and the environment, connecting DNA to physiology, and assessing rare variants and structural variation. This book aims to support undergraduate and graduate studies in medicine, genetics, molecular biology, and bioinformatics. Additionally, the design of the content is such that medical practitioners, professionals working in the biomedical sciences or related fields, and motivated lay individuals interested in exploring their personal genetic data should find it relevant and approachable.

The first edition of Human Genome Epidemiology, published in 2004, discussed how the epidemiologic approach provides an important scientific foundation for studying the continuum from gene discovery to the development, applications and evaluation of human genome information in improving health and preventing disease. Since that time, advances in human genomics have continued to occur at a breathtaking pace.
With contributions from leaders in the field from around the world, this new edition is a fully updated look at the ways in which genetic factors in common diseases are studied. Methodologic developments in collection, analysis and synthesis of data, as well as issues surrounding specific applications of human genomic information for medicine and public health are all discussed. In addition, the book focuses on practical applications of human genome variation in clinical practice and disease prevention. Students, clinicians, public health professionals and policy makers will find the book a useful tool for understanding the rapidly evolving methods of the discovery and use of genetic information in medicine and public health in the 21st century.

This fourth edition of Huntington's Disease presents a comprehensive summary of the current knowledge of this disease, including the major scientific and clinical advances that have occurred since publication of the third edition in 2002. Completely updated and expanded, chapters in this volume are organized in five sections: * Clinical aspects of Huntington's disease, including updated chapters on historical perspectives, neurological, neuropsychiatric, and neuropsychological aspects, and new chapters on juvenile Huntington's and the premanifest and early stages * The genetics of Huntington's disease, including new information on its epidemiology discussions of new testing guidelines * Neurobiology, including recent insights into correlations between pathology and symptoms and a new chapter on neuronal circuitry * The molecular biology of Huntington's disease, including new chapters on the normal function of huntingtin, the molecular pathogenesis of Huntington's disease and the peripheral pathology of the disorder, and an extensively updated chapter on its structural biology * An updated description of the comprehensive care for Huntington's disease, featureing a new chapter on preclinical therapeutics and a completely rewritten chapter on the state of the art of experimental therapeutics and clinical trials.

The best-selling author of Leonardo da Vinci and Steve Jobs returns. In 2012, Nobel Prize winning scientist Jennifer Doudna hit upon an invention that will transform the future of the human race: an easy-to-use tool that can edit DNA. Known as CRISPR, it opened a brave new world of medical miracles and moral questions. It has already been deployed to cure deadly diseases, fight the coronavirus pandemic of 2020, and make inheritable changes in the genes of babies. But what does that mean for humanity? Should we be hacking our own DNA to make us less susceptible to disease? Should we democratise the technology that would allow parents to enhance their kids? After discovering this CRISPR, Doudna is now wrestling these even bigger issues. THE CODE BREAKERS is an examination of how life as we know it is about to change - and a brilliant portrayal of the woman leading the way.