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Author : Jian Gao
Publisher : Frontiers Media SA
Page : 123 pages
File Size : 27,63 MB
Release : 2023-10-06
Category : Science
ISBN : 2832535402
Author : Mani T. Valarmathi
Publisher : BoD – Books on Demand
Page : 152 pages
File Size : 41,23 MB
Release : 2021-09-22
Category : Medical
ISBN : 1839629304
A rare disease is any disease or condition that affects a small percentage of the population. Many rare conditions are life-threatening or chronically debilitating, and unfortunately do not have appropriate treatments, rendering them incurable. In recent years, there has been substantial development in the area of rare disease research and its clinical applications, for instance, rare disease biology and genomics, epidemiology and preventions, early detection and screening, and diagnosis and treatment. In this context, this book consolidates the recent advances in rare disease biology and therapeutics, covering a wide spectrum of interrelated topics, and disseminates this essential knowledge in a comprehensible way to a greater scientific and clinical audience as well as patients, caregivers, and drug and device manufacturers, especially to support rare disease product development. Chapters cover such diseases as Felty’s syndrome, Löfgren’s syndrome, mesothelioma, epidermolysis bullosa, and more. This book is a valuable resource not only for medical and allied health students but also for researchers, clinical and nurse geneticists, genetic counselors, and physician assistants.
Author : National Research Council
Publisher : National Academies Press
Page : 142 pages
File Size : 48,10 MB
Release : 2012-01-16
Category : Medical
ISBN : 0309222222
Motivated by the explosion of molecular data on humans-particularly data associated with individual patients-and the sense that there are large, as-yet-untapped opportunities to use this data to improve health outcomes, Toward Precision Medicine explores the feasibility and need for "a new taxonomy of human disease based on molecular biology" and develops a potential framework for creating one. The book says that a new data network that integrates emerging research on the molecular makeup of diseases with clinical data on individual patients could drive the development of a more accurate classification of diseases and ultimately enhance diagnosis and treatment. The "new taxonomy" that emerges would define diseases by their underlying molecular causes and other factors in addition to their traditional physical signs and symptoms. The book adds that the new data network could also improve biomedical research by enabling scientists to access patients' information during treatment while still protecting their rights. This would allow the marriage of molecular research and clinical data at the point of care, as opposed to research information continuing to reside primarily in academia. Toward Precision Medicine notes that moving toward individualized medicine requires that researchers and health care providers have access to very large sets of health- and disease-related data linked to individual patients. These data are also critical for developing the information commons, the knowledge network of disease, and ultimately the new taxonomy.
Author : Meral Özgüç
Publisher : Springer
Page : 219 pages
File Size : 27,81 MB
Release : 2014-09-08
Category : Science
ISBN : 9401792143
This book focuses on predictive, preventative and personalized medicine (PPPM) and how it is related to the healthcare of rare diseases. Readers will discover how advanced rare diseases healthcare provides an excellent “proof-of-principles” for the personalisation of healthcare systems on a global scale. Chapters look at national plans for rare disease, at biobanking, gene identification, rare cancers, virus gene therapy , induced pluripotency for cell therapy amongst other topics. There is a chapter dedicated to personalized medicine for hereditary deafness and another exploring the complexity of genotype-phenotype correlations. Specific diseases such as Fabry's, Gauchers and mitochondrial cytopathies are highlighted and we look at enzyme replacement therapy in lysosomal storage diseases. This work is part of a series, produced with the involvement of the European Association for Predictive, Preventive and Personalised Medicine. The series focusses on the concept of an integrative medical approach by PPPM. This volume is dedicated to all aspects related to the prediction, prevention and personalised treatments of rare diseases, and in doing so it explores developments relevant to all medical branches. The authors cover ethical considerations, the creation of a robust platform for professional communication, synergies with patient organisations, “doctor-patient” collaboration and a new philosophy of integrative medicine by PPPM. This volume serves as a reference source for scientific and medical centres in the field and can be used both at medical curricula and graduate level in the life sciences. Those who place a special emphasis on healthcare promotion and innovations intended to combat rare diseases, save the affected lives and enhance life quality will all find this book of great value.
Author : Institute of Medicine
Publisher : National Academies Press
Page : 442 pages
File Size : 34,89 MB
Release : 2011-04-03
Category : Medical
ISBN : 0309158060
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. The Institute of Medicine (IOM) recommends implementing an integrated national strategy to promote rare diseases research and product development.
Author : Mukesh Verma
Publisher : Academic Press
Page : 346 pages
File Size : 37,4 MB
Release : 2016-12-22
Category : Science
ISBN : 0128095024
Progress and Challenges in Precision Medicine presents an insightful overview to the myriad factors of personalized and precision medicine. The availability of the human genome, large amounts of data on individual genetic variations, environmental interactions, influence of lifestyle, and cutting-edge tools and technologies for big-data analysis have led to the age of personalized and precision medicine. Bringing together a global range of experts on precision medicine, this book collects previously scattered information into one concise volume which covers the most important developments so far in precision medicine and also suggests the most likely avenues for future development. The book includes clinical information, informatics, public policy implications, and information on case studies. It is a useful reference and background work for students, researchers, and clinicians working in the biomedical and medical fields, as well as policymakers in the health sciences. Provides an overview of the growing field of precision medicine Contains chapters from geographically diverse experts in their field Explores important aspects of precision medicine, including applications, ethics, and development
Author : Manuel Posada de la Paz
Publisher : Springer
Page : 675 pages
File Size : 28,86 MB
Release : 2017-12-06
Category : Medical
ISBN : 3319671448
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.
Author : National Academies of Sciences, Engineering, and Medicine
Publisher : National Academies Press
Page : 473 pages
File Size : 47,37 MB
Release : 2015-12-29
Category : Medical
ISBN : 0309377722
Getting the right diagnosis is a key aspect of health care - it provides an explanation of a patient's health problem and informs subsequent health care decisions. The diagnostic process is a complex, collaborative activity that involves clinical reasoning and information gathering to determine a patient's health problem. According to Improving Diagnosis in Health Care, diagnostic errors-inaccurate or delayed diagnoses-persist throughout all settings of care and continue to harm an unacceptable number of patients. It is likely that most people will experience at least one diagnostic error in their lifetime, sometimes with devastating consequences. Diagnostic errors may cause harm to patients by preventing or delaying appropriate treatment, providing unnecessary or harmful treatment, or resulting in psychological or financial repercussions. The committee concluded that improving the diagnostic process is not only possible, but also represents a moral, professional, and public health imperative. Improving Diagnosis in Health Care, a continuation of the landmark Institute of Medicine reports To Err Is Human (2000) and Crossing the Quality Chasm (2001), finds that diagnosis-and, in particular, the occurrence of diagnostic errorsâ€"has been largely unappreciated in efforts to improve the quality and safety of health care. Without a dedicated focus on improving diagnosis, diagnostic errors will likely worsen as the delivery of health care and the diagnostic process continue to increase in complexity. Just as the diagnostic process is a collaborative activity, improving diagnosis will require collaboration and a widespread commitment to change among health care professionals, health care organizations, patients and their families, researchers, and policy makers. The recommendations of Improving Diagnosis in Health Care contribute to the growing momentum for change in this crucial area of health care quality and safety.
Author : Lloyd Minor
Publisher : John Wiley & Sons
Page : 267 pages
File Size : 34,73 MB
Release : 2020-01-23
Category : Medical
ISBN : 1119672740
Today we are on the brink of a much-needed transformative moment for health care. The U.S. health care system is designed to be reactive instead of preventive. The result is diagnoses that are too late and outcomes that are far worse than our level of spending should deliver. In recent years, U.S. life expectancy has been declining. Fundamental to realizing better health, and a more effective health care system, is advancing the disruptive thinking that has spawned innovation in Silicon Valley and throughout the world. That's exactly what Stanford Medicine has done by proposing a new vision for health and health care. In Discovering Precision Health, Lloyd Minor and Matthew Rees describe a holistic approach that will set health care on the right track: keep people healthy by preventing disease before it starts and personalize the treatment of individuals precisely, based on their specific profile. With descriptions of the pioneering work undertaken at Stanford Medicine, complemented by fascinating case studies of innovations from entities including the Chan Zuckerberg Biohub, GRAIL, and Impossible Foods, Minor and Rees present a dynamic vision for the future of individual health and health care. Youll see how tools from smartphone technology to genome sequencing to routine blood tests are helping avert illness and promote health. And you'll learn about the promising progress already underway in bringing greater precision to the process of predicting, preventing, and treating a range of conditions, including allergies, mental illness, preterm birth, cancer, stroke, and autism. The book highlights how biomedical advances are dramatically improving our ability to treat and cure complex diseases, while emphasizing the need to devote more attention to social, behavioral, and environmental factors that are often the primary determinants of health. The authors explore thought-provoking topics including: The unlikely role of Google Glass in treating autism How gene editing can advance precision in treating disease What medicine can learn from aviation liHow digital tools can contribute to health and innovation Discovering Precision Health showcases entirely new ways of thinking about health and health care and can help empower us to lead healthier lives.
Author : Tarun Weeramanthri
Publisher : Frontiers Media SA
Page : 149 pages
File Size : 32,96 MB
Release : 2018-06-25
Category :
ISBN : 2889455017
Precision Public Health is a new and rapidly evolving field, that examines the application of new technologies to public health policy and practice. It draws on a broad range of disciplines including genomics, spatial data, data linkage, epidemiology, health informatics, big data, predictive analytics and communications. The hope is that these new technologies will strengthen preventive health, improve access to health care, and reach disadvantaged populations in all areas of the world. But what are the downsides and what are the risks, and how can we ensure the benefits flow to those population groups most in need, rather than simply to those individuals who can afford to pay? This 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.