Found inside – Page 4rare disease R&D in general but also focus on the specific needs at disease (class) level. ... A rare disease is, according to the European definition, ... Mapping the distribution of patients and analyzing disease clusters is an effective method in epidemiology, where the non-random aggregation of patients is carefully investigated. The discussion on consanguinity and disorders of adulthood is the first review of its kind and is particularly relevant given the ageing of the global population. This book provides an up-to-date monograph on the drug discovery and regulatory elements of therapeutics used to treat rare or "orphan" diseases. Comprehensive and clinically relevant, Genomic Disorders: The Genomic Basis of Disease offers genome and clinical genetics researchers not only an up-to-date survey of genome architecture, but also details those rearrangements that can be ... This book, which is the result of the effort of many persons, is destined, to aid laboratory managers and counsellors, health care managers and other stakeholders in national or international health care service to improve the services to ... A respiratory physician is only likely to see a few orphan lung diseases each year or even during their career. However, it is essential that specialists are able identify, confirm and diagnosis orphan lung disease in a patient. This book describes and discusses the increasing public health impact of common neurological disorders such as dementia, epilepsy, headache disorders, multiple sclerosis, neuroinfections, neurological disorders associated with malnutrition, ... 'Rare Diseases Epidemiology' provides methods and approaches from the collective experiences of established research investigators who address these significant issues of the development of patient registries; the collection, storage and ... This book, which is the result of the effort of many persons, is destined, to aid laboratory managers and counsellors, health care managers and other stakeholders in national or international health care service to improve the services to ... Found insideStudents and investigators working with brain-gut interactions, gastroenterologists, psychologists, and psychiatrists will find this book to be an essential reference resource. Found insideIn Deep Medicine, leading physician Eric Topol reveals how artificial intelligence can help. This book explores serious diseases and disorders that most readers have never heard of, ranging from genetic, infectious, and environmental diseases to autoimmune, idiopathic, and mental disorders. Discusses indepth the pharmacologic and non-pharmacologic therapies used in the treatment of pulmonary vascular disease -- including the benefits and risks of each -- allowing for more informed care decisions. Found insideThis book highlights the current state of biomarkers and will aid scientists and clinicians to develop better and more specific biomarkers for disease management. Found insideFor all these reasons, many patients with rare disorders are referred to ... The collection of many types of data about a rare disease is of great ... Found inside – Page iThe 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. Illustrating the importance of information systems in delivering high-quality health care at the lowest possible cost, this book provides the essential resources needed by the health informatics / medical informatics specialist to ... Found inside – Page 190Given that there are many examples of content related to rare diseases, this study offers only three different examples of the treatment that the subject ... The goal here is to find a compact representation for the minority classes in order to identify all the rare examples with high precision and recall. Found insideImproved access to information on rare diseases continues to expand as rare ... For example, the NIH has put forth the idea of creating a federation of ... Found insideTHE ESSENTIAL WORK IN TRAVEL MEDICINE -- NOW COMPLETELY UPDATED FOR 2018 As unprecedented numbers of travelers cross international borders each day, the need for up-to-date, practical information about the health challenges posed by travel ... Found insideClinical Genome Sequencing: Psychological Aspects thoroughly details key psychological factors to consider while implementing genome sequencing in clinical practice, taking into account the subtleties of genetic risk assessment, patient ... Found insideThis is the first collection of theoretical frameworks, analyses of empirical data, and case studies to be assembled on this topic, published to stimulate debate and promote collaborative work. Rare diseases collectively affect millions of Americans of all ages, but developing drugs and medical devices to prevent, diagnose, and treat these conditions is challenging. This book presents detailed case reports of unusual diseases with common symptoms, many of which have emerged in the past decade as a result of nature, advances in medical treatment, and increasing recognition of specific underpinnings of ... The authors comprehensively review the anticancer genes and gene delivery methods currently available for cancer gene therapy, including the transfer of genetic material into the cancer cells, stimulation of the immune system to recognize ... The different technologies described in this chapter are referenced throughout the book. Found inside – Page 275These examples illustrate how knowledge of the exact molecular defects in patients with rare diseases can open an array of therapeutic possibilities, ... In Mercies in Disguise, acclaimed New York Times science reporter and bestselling author Gina Kolata tells the story of the Baxleys, an almost archetypal family in a small town in South Carolina. Found insideThis book is essential reading for researchers and students exploring applications of genomics to population and public health. Found inside – Page 75Examples of other disorders include the association of glycerol kinase mutations and diabetes [34], the identification of mutations in ... Found insideHere, Joselin tells the story of their gene: the lives it claimed and the future of genomic medicine with the potential to save those that remain. This book introduces readers to Next Generation Sequencing applications in medical genetics. Often, the disease process manifested in a certain rare disease is strikingly similar to the disease process observed in a common disease. This work ties the lessons learned about rare diseases to our understanding of common ones. This new edition of the definitive reference text on the neuronal ceroid lipofuscinoses will prove useful for clinicians, family physicians, research scientists, diagnostic laboratories, families affected by the disease as well as by ... While revealing that proper nutrition can have a dramatic effect on reducing and reversing these ailments as well as curbing obesity, this text calls into question the practices of many of the current dietary programs, such as the Atkins ... Found insideCardioskeletal Myopathies in Children and Young Adults focuses on plaques that kill people in their 40’s-50’s and the way they start to form in young adulthood. The only available reference to comprehensively discuss the common and unusual types of rickettsiosis in over twenty years, this book will offer the reader a full review on the bacteriology, transmission, and pathophysiology of these ... Found insideIn The Genome Odyssey, Dr. Euan Ashley, Stanford professor of medicine and genetics, brings the breakthroughs of precision medicine to vivid life through the real diagnostic journeys of his patients and the tireless efforts of his fellow ... The chapters inform the audience on the revolution in new genomic methods and the impact this is having on potential study designs and the potential to discover genetic causes of many unsolved orthopaedic conditions. Many people naturally assume that the claims made for foods and nutritional supplements have the same degree of scientific grounding as those for medication, but that is not always the case. The book brings together interviews with families that are currently battling rare diseases along with leading experts. The results of all this hard work is a valuable resource that will educate and inspire hope. This User’s Guide is intended to support the design, implementation, analysis, interpretation, and quality evaluation of registries created to increase understanding of patient outcomes. Found insideeHealth has revolutionized health care and the practice of medicine. A Really Practical Handbook of Children's Palliative Care for Doctors and Nurses Anywhere in the World offers really practical solutions to common problems faced by health professionals caring for dying children and their families, whatever ... The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a ... Found inside – Page 11An example of a drug that was approved for a mainstream indication and subsequently approved for a rare disease is sildena l from P zer (as Viagra, ... With leading experts leading physician Eric Topol reveals how artificial intelligence can help inside Page! Elements of therapeutics used to treat rare or `` orphan '' diseases this hard work is vast... During their career it is essential that specialists are able identify, confirm and diagnosis orphan disease. 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