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The Bedside Dysmorphologist is a thoughtful clinical guide to common--and often quite subtle--congenital malformations in clinical exam. Organized by area of the body, each section provides the user with a concise, illustrated roadmap for assessment and differential diagnosis of highly nuanced elements of dysmorphology. Narrated by a world-class clinical geneticist and enriched with a library of original photos, it provides a safety net for physicians encountering abnormalities in physical exam.Less

The ciliopathies are a group of rare diseases that often affect multiple systems within the body, and are caused by defects in the function or structure of cilia. This resource provides a clinical overview and reference to this newly emergent group of disorders ranging from Alström syndrome to putative ciliopathic disorders. Each chapter provides an in-depth discussion on a specific disorder, including the latest scientific research together with a description of its features, and practical guidelines on diagnosis.Less

Through the use of dramatic narratives, The Drama of DNA brings to life the complexities raised by the application of genomic technologies to health care and diagnosis. This creative, pedagogical approach shines a unique light on the ethical, psychosocial, and policy challenges that emerge as comprehensive sequencing of the human genome transitions from research to clinical medicine. Narrative genomics aims to enhance understanding of how we evaluate, process, and share genomic information, and to cultivate a deeper appreciation for difficult decisions encountered by health care professionals, bioethicists, families, and society as this technology reaches the bedside. This innovative title includes both original genomic plays and theatrical excerpts that illuminate the implications of genomic information and emerging technologies for physicians, scientists, counselors, patients, blood relatives, and society. In addition to the plays, the authors provide an analytical foundation to frame the many challenges that often arise.Less

Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the classic monograph on the topic, Alan Emery and Francesco Muntoni are joined by Rosaline Quinlivan, Consultant in Neuromuscular Disorders, to provide a thorough update on all aspects of the disorder. Recent understanding of the nature of the genetic defect responsible for Duchenne Muscular Dystrophy and isolation of the protein dystrophin has led to the development of new theories for the disease's pathogenesis. This new edition incorporates these advances from the field of molecular biology, and describes the resultant opportunities for screening, prenatal diagnosis, genetic counselling and from recent pioneering work with anti-sense oligonucleotides, the possibility of effective RNA therapy. Although there is still no cure for the disorder, there have been significant developments concerning the gene basis, publication of standards of care guidelines, and improvements in management leading to significantly longer survival, particularly with cardio-pulmonary care. The authors also investigate other forms of pharmacological, cellular and gene therapies.Less

Chapters provides overview of pathways of development and reviews of dysmorphic syndromes for which the causative gene has been identified. For each disorder, an analysis of the role of the gene in the relevant developmental pathway is provided, along with the mechanism by which mutations in the gene cause the developmental pathology. Emphasis is placed the developmental roles of genes in the causation of hereditary conditions affecting appearance and function.Less

Women can be described as genetic mosaics because they have two distinctly different types of cells throughout their bodies. Unlike males, who have one X chromosome, females have two X chromosomes in every cell. Much has been written about the Y chromosome and its role in inducing maleness. This is the only resource about the X chromosome as a key to female development and the role of X-related factors in the etiology of sex differences in human disease. This new edition reflects research advances since the widely praised first edition. New advances include knowledge of species differences in mammalian X inactivation processes and silencing of the inactive X chromosome.Less

The role of genetics is becoming increasingly important in all aspects of healthcare and particularly in the field of cancer care. Genetics for Health Professionals in Cancer Care: From Principles to Practice equips health professionals with the knowledge and skills required for all aspects of managing cancer family history. This includes taking an accurate cancer family history and drawing a family tree; understanding cancer biology, basic cancer genetics and the genes involved in hereditary breast, ovarian, prostate, colorectal, gastric and related gynaecological cancers and rare cancer predisposing syndromes; assessing cancer risk and communicating risk information; early detection and risk reducing measures available for those at increased risk and managing individuals with hereditary cancer. Less

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. New topics included 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. This online resource all includes clinical practice-oriented chapters highlighting genomic applications (array comparative genomic hybridization, exome genome sequencing and new generation sequencing) in clinical diagnosis of congenital developmental malformations, Mendelian genetic disorders, and complex cardiovascular, neuro-psychiatric, ophthalmic, dermatologic, inflammatory and pediatric disorders. It also discusses 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 also covered.Less

Genomics and Health in the Developing World provides detailed and comprehensive coverage of population structures, human genomics, and genome variation - with particular emphasis on medical and health issues - in the emerging economies and countries of the developing world. With sections dedicated to fundamentals of genetics and genomics, epidemiology of human disease, biomarkers, comparative genomics, developments in translational genomic medicine, current and future health strategies related to genetic disease, and pertinent legislative and social factors, this resource highlights the importance of utilizing genetics/genomics knowledge to promote and achieve optimal health in the developing world. Grouped by geographic region, the chapters in this volume address inherited disorders in the developing world, the progress of diagnostic laboratory genetic testing, prenatal screening, and genetic counseling worldwide, the ethical and legal concerns of medical genetics in the developing world, and social, cultural, and religious issues related to genetic diseases across continents.Less

Thoroughly updated and revised, this new edition of this resource provides a comprehensive review of physical measurements used in the clinical evaluation of neonates, children, and adults presenting with dysmorphic features, structural anomalies, or genetic syndromes. It provides guidance on standardized measurement techniques and comparison standards, enabling the clinician to determine which physical measurements are within the normal range and which are not, as well as definitions of terms used to describe human growth and morphology. Less

This resource traces the history of Duchenne Muscular Dystrophy in detail along with a commentary of Edward Meryon's research, which has led to our current understanding of the disease, with full references and informative, historically relevant illustrations.Less

Malformations are found in 2%-3% of all infants born in the United States. An additional equal number of infants are later found to have malformations that were not obvious at birth. The third edition of Human Malformations and Related Anomalies is a comprehensive compilation of significant human malformations authored by 40 authorities in the field of genetics and dysmorphology. It introduces a new format that allows easy access to essential information on each major human malformation. The abbreviated text on clinical presentation, associated anomalies, treatment, and prognosis is combined with the liberal use of line drawings, photographs, radiographs, and other images to give a succinct composite view of each malformation. The anatomical and molecular embryology is set out in a consistent manner in the introduction to each organ system. An appendix provides a synopsis of the 500 syndromes that are most commonly associated with structural birth defects. The volume utilizes a blend of time-tested terminology and the nomenclature recommended by an international group of clinical geneticists and dysmorphologists. Where available, advances in the understanding of the causes of malformations acquired through the new and emerging genetic and genomic technologies are recognized.Less

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, which include clinical aspects of Huntington's disease (historical perspectives, neurological, neuropsychiatric, and neuropsychological aspects, and juvenile Huntington's), the genetics of Huntington's disease (epidemiology discussions of new testing guidelines), neurobiology (correlations between pathology and symptoms and neuronal circuitry), the molecular biology of Huntington's disease (the normal function of huntingtin, molecular pathogenesis, the peripheral pathology of the disorder, and structural biology), and an updated description of the comprehensive care for Huntington's disease (preclinical therapeutics and the state of the art of experimental therapeutics and clinical trials).Less

Works on inborn errors of metabolism (IEMs) have traditionally focused on classical biochemistry, clinical presentation, and standard treatment approaches. Inborn Errors of Metabolism is an expansion on this model, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this title includes coverage of new-born screenings and an overarching treatment of IEMs as complex diseases — how basic alterations can lead to complex secondary and tertiary effects in metabolism that contribute to increasingly recognized natural histories of disease.Less

This online resource provides clinicians with a framework for dealing with neurogenetic conditions using real case studies to illustrate the most important and topical neurogenetic disorders. It covers a wide range of inherited conditions, including forms of dystonia, Parkinson’s disease, spastic paraplegias, mitochondrial diseases, myopathies, neuropathies, and much more. Particular attention is paid to practical issues regarding how to make a genetic diagnosis and how to counsel the family. We will also address some contemporary issues in neurogenetics, such as the impact of direct-to-consumer genetic testing. Each chapter focuses on crucial issues regarding the clinical assessment, investigations and management of conditions, and key clinical points are listed at the end of the chapter, along with a list of suggested further reading. Less

An invaluable reference for the primary health care team and junior doctor in training, the Oxford Handbook of Genetics provides accessible information on specific genetic diseases, and possible genetic components of the major diseases. It assists with why, when, and where to refer patients, and affected families, to get the best advice about genetic disease.Less

Reprogenetic technologies, which combine the power of reproductive techniques with the tools of genetic science and technology, promise prospective parents a remarkable degree of control to pick and choose the likely characteristics of their offspring. Prominent authors such as Agar, Buchanan, DeGrazia, Green, Harris, Robertson, Savulescu, and Silver have flocked to the banner of reprogenetics. For them, increased reproductive choice and reduced suffering through the elimination of genetic disease and disability are just the first step. They advocate use of these technologies to create beings who enjoy longer and healthier lives, possess greater intellectual capacities, and are capable of more refined emotional experiences. Indeed, Harris and Savulescu take reprogenetic technologies to be so valuable that their use is not only morally permissible but morally obligatory. Rethinking Reprogenetics challenges this mainstream view with a contextualized, gender-attentive philosophical perspective. It shows that one need not be a Luddite, a social conservative, or a religious zealot to be critical of reprogenetics. Pointing out the flawed nature of the arguments put forward by the technologies’ proponents, Rethinking Reprogenetics reveals the problematic nature of the assumptions underpinning current evaluations of these technologies and offers a framework for a more critical and skeptical assessment.Less

Seeking Cures outlines the progress and implications of science's quest to identify therapeutic targets and initiate novel treatments at the gene, RNA, protein, and physiological levels. Also considered are aspects of treatment at the cellular level (e.g., those with hematopoietic stem cells or induced pluripotent stem cells). Topics covered include an outline of the processes typical for identifying disease-modifying therapies, examples of newer therapeutic approaches in use or under investigation to treat lysosomal storage diseases, inborn errors of metabolism, mitochondrial functional defects, and specific monogenic diseases, and therapeutic designs for specific complex common diseases, including Alzheimer's disease, cancer, and autism.Less

This resource presents a lively account of how our ideas and knowledge about human genetics have developed over the past century from the perspective of someone inside the field with a deep interest in its historical aspects. Dr. Harper has researched the history of genetics and has had personal contact with a host of key figures whose memories and experiences extend back 50 years, and he has interviewed and recorded conversations with many of these important geneticists. From the origins of human genetics; through the contributions of Darwin, Mendel, and other giants; the identification of the first human chromosome abnormalities; and up through the completion of the Human Genome project, this Short History is written in the author's characteristic clear and personal style, which appeals to geneticists and to all those interested in the story of human genetics.Less

Comprising 31 clinical protocols from the world's foremost clinical geneticists, Signs and Symptoms of Genetic Conditions provides a practical online guide for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms. Each chapter examines a specific clinical finding and leads the user through a step-by-step approach to a differential diagnosis. Features include prominent flow chart diagrams that graphically depict the diagnostic approach, concise recommendations for laboratory and/or imaging studies, and health supervision and management strategies.Less