Download or read book Rare Disease Advocacy Groups and Their Significance in Diagnosis Management Treatment and Prevention of Rare Diseases written by Qurratulain Hasan and published by . This book was released on 2020 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rare diseases are those diseases that are not seen frequently in a population. There are about 7000 rare diseases that have been identified worldwide, and 80% of them are caused by genetic changes. Since a small number of individuals are affected with rare diseases, most clinicians are not aware of such diseases, and thus, they remain undiagnosed and untreated. Awareness regarding such diseases is essential to train clinicians to diagnose individuals affected with these disorders and to develop National/International Registries, which will serve to give information about the disease prevalence, its natural course, treatment, and management options available, to the medical fraternity. Patient advocacy groups play a remarkable and unique role in forming the collective voice of individuals living with rare diseases. They help in the identification, diagnosis, management, treatment, and prevention of such diseases. Advocacy Groups form collaborative partnerships with scientists studying such rare diseases, clinicians managing these diseases, pharmaceutical companies developing drugs, and Government officials overseeing and policy makers implementing medical regulatory processes. Thus, advocacy groups play a key role in helping patients and families with rare diseases.
Download or read book One in a Million written by Lindsay Hughes and published by . This book was released on 2013 with total page 215 pages. Available in PDF, EPUB and Kindle. Book excerpt: Background: Rare diseases represent an important public health issue; prevalence is an estimated 30 million patients in the United States. Efforts from advocacy organizations and governmental outreach based on assumptions derived from mainstream diseases fail to address the unique challenges rare diseases present, resulting in alienation, isolation, stigmatization, and poor health outcomes. Methods: Current ehealth practices were compared with needs reported by patients and HSOs with a selected rare disease via 1. content analysis of threads (n=852) from a pre-eminent online advocacy community; 2. content analysis of advocacy, government, and non-scientific resources 3. Cross-sectional surveys (n=57); 4. In-depth interviews (n=28); 5. Focus Group Discussions (n=12). Findings: Analyzed qualitatively and quantitatively using a priori codes to evaluate Weick's model of organizing and Uncertainty Management Theory as well as codes emerging via Grounded Theory, the exemplar rare disease community fails to meet the needs described by patients and HSOs. Interactions were low (mean = 1.81 responses, median and mode = 0) using the mainstream mechanism. Conversely, patients informally organizing reported a reduction in isolation and equivocality and were more equipped with strategies to manage their health. However, they lacked ability to advocate on a large scale and questioned information credibility. Conclusions: Rare disease patients rely on peers for social support and information. Leveraging the resources of well-known advocacy groups with a patient-centered model will enable peer-to-peer support and information sharing, leading toward the understanding of the pathogenesis and side effects associated with rare diseases.
Download or read book Rare Diseases and Orphan Products written by Institute of Medicine and published by National Academies Press. This book was released on 2011-04-03 with total page 442 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Prevention Diagnosis and Treatment of Rare Disorders written by Marc Marie Dooms and published by Frontiers Media SA. This book was released on 2022-11-10 with total page 285 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Rare Diseases in the Age of Health 2 0 written by Rajeev K. Bali and published by Springer Science & Business Media. This book was released on 2013-10-21 with total page 307 pages. Available in PDF, EPUB and Kindle. Book excerpt: This text focuses on various factors associated with orphan diseases and the influence and role of health information technologies. Orphan diseases have not been adopted by the pharmaceutical industry because they provide little financial incentive to treat or prevent it. It is estimated that 6,000-7,000 orphan diseases exist today; as medical knowledge continues to expand, this number is likely to become much greater. The book highlights the opportunities and challenges in this increasingly important area. The book explores new avenues which are opened by information technologies and Health 2.0, and highlights also economic opportunities of orphan disease medicine. The editors of this new book have international experience and competencies in the key areas of patient empowerment, healthcare and clinical knowledge management, healthcare inequalities and disparities, rare diseases and patient advocacy.
Download or read book Rare Diseases written by Nicolas Sireau and published by Routledge. This book was released on 2017-09-08 with total page 237 pages. Available in PDF, EPUB and Kindle. Book excerpt: There are 7,000 rare diseases affecting 6%–8% of the global population. That's 3.5 million people in the UK alone. Yet only 200 rare diseases have approved treatments. In recent years, there has been a surge of interest from business and social entrepreneurs in the field of health – including looking at ways to treat rare disease patients better and faster. This book presents some of the latest developments in the world of rare disease entrepreneurship from a global group of experts. It examines the topic from the business angle, considering the drug development process and providing case studies of successful orphan drug enterprises. It also looks at rare diseases from the perspective of the patient, analysing the growing rare disease patient movement, a successful patient group that uses social enterprise techniques, and chapters on key requirements for helping patients with rare diseases through registries and centres of excellence. The book will be an essential toolkit for social and business entrepreneurs who are interested in the world of rare/orphan diseases. It has the rigour of an academic publication, along with the clarity of a lay publication. An original and timely book, Rare Diseases will help to add knowledge and awareness to a vastly under-published subject.
Download or read book Rare Diseases written by Mani T. Valarmathi and published by . This book was released on 2021 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Rare Diseases written by Zhan He Wu and published by BoD – Books on Demand. This book was released on 2020-03-25 with total page 250 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rare diseases are a group of genetic disorders occurring in a small percentage of the population with the conditions being chronic but incurable. Approximately 7000 to 8000 different types have been identified and about 350 million people globally are affected in childhood and adulthood, resulting in enormous physical, mental, and psychological suffering and financial burden. It is imperative for medical scientists, clinicians, communities, and societies to ensure appropriate care is applied to ease the suffering of such patients. The extraordinary and unprecedented hallmark in the field of rare diseases has revolutionized modern human medicine with exciting and advancing developments of the genomic era over the last two decades. Patients with rare diseases have been receiving increasing benefits in care and life quality improvements than ever before. This book intends to share and exchange the advancing knowledge and experiences from the authors, who have the necessary expertise within the various topics and subjects in the research, diagnosis, and management of rare diseases. It is hoped they are able to provide further benefits to patients and families with the development of early and accurate diagnosis and effective therapies.
Download or read book NORD Compendium of Rare Diseases and Disorders written by National Organization for Rare Disorders and published by . This book was released on 2008 with total page 893 pages. Available in PDF, EPUB and Kindle. Book excerpt: A unique compendium providing comprehensive information on the diagnosis and management of over 1,000 rare diseases and disorders. This fully revised and expanded NORD Compendium of Rare Diseases and Disorders is the most comprehensive and authoritative resource of its kind. The Compendium provides a wealth of quick-reference information and data on more than 1,100 rare diseases and more than 1,100 organizations from signs, symptoms, and etiology to support groups, researchers, and treatments.The book is an invaluable diagnostic tool for physicians in the early identification of rare diseases, for researchers on genetic disorders, for non-profit organizations, and for patients who can often go years with proper diagnosis. While rare or orphan diseases are defined as those affecting fewer than 200,000 people in the United States, more than 25 million Americans are actually suffering from one of them. Due to the passage of the landmark Orphan Drug Act of 1983, together with the work of the National Organization for Rare Diseases, there is heightened awareness of and interest in these conditions among physicians, drug discovery researchers, government officials, and the health insurance industry. The FDA has approved 288 drugs and therapies to treat rare diseases, and over 1,400 products are in development and being tested for future approval since the Orphan Drug Act legislation was passed. An essential reference for ALL Libraries: Medical physician and hospital reference and research Government research, support, and funding Academic research and education Industry development of new drugs and therapies Public patient information, advocacy, and support.
Download or read book Rare Diseases Epidemiology written by Manuel Posada de la Paz and published by Springer. This book was released on 2012-11-07 with total page 542 pages. Available in PDF, EPUB and Kindle. Book excerpt: In our etiologic research, we epidemiologists need to leave behind the concepts of ‘cohort’ study and ‘case–control’ study and adopt that of the etiologic study as the singular substitute for these. With this sentence, the famous epidemiologist Professor Olli S. Miettinen began his personal re ection on the future of the epidemiology [1]. He sought to highlight the fact that the role of the epidemiologist should be mainly focused on aetiological research. Nevertheless, the widespread idea still exists that epidemiology is limited to purely providing gures and descriptive data on the frequency and distribution of disease. Indeed, it is more than likely that the precise aim of those rst classic epidemiological steps, i. e. , methods essentially based on describing the distri- tion of a given disease, is still not all that well understood by many scientists, let alone the general public. Such descriptions seek to generate hypotheses and afford explanations for key factors (be these risk factors or the presumable causes th- selves), which might justify differences in terms of persons, time or place and, in turn, ultimately serve to develop preventive measures and/or gain quality-adjusted life years. To restrict the goals of epidemiology to activities exclusively concerned with reporting gures or even complex statistical results is a great mistake, one that renders it dif cult to take full advantage of the epidemiologist’s true role, which is “to study disease determinants and to assess the actual impact of factors involved in their development, distribution and dissemination”.
Download or read book Rare Diseases written by Giorgio Di Giovanni and published by . This book was released on 2014 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: A rare disease is any disease that affects a small percentage of the population. Rare diseases can vary in prevalence between populations, so a disease that is rare in some populations may be common in others. This is especially true of genetic diseases and infectious diseases. In this book, the authors present current research on the diagnoses, challenges and developing treatments for rare diseases, from researchers across the globe. Topics discussed include commotio cordis, also known as cardiac concussion with described cases of ventricular fibrillation and sudden death from cardiac arrest; the clinical manifestations and pathophysiology of muscle-specific kinase (MuSK) myasthenia gravis (MG); neurological complications of histiocytosis; nail-patella syndrome; management of cardiac angiosarcoma; diagnosis and treatment of clear cell adenocarcinoma of the bladder; eosinophilic pancreatitis; non-traumatic splenic rupture; and alkaptonuria (AKU).
Download or read book Rare Diseases Epidemiology Update and Overview written by Manuel Posada de la Paz and published by Springer. This book was released on 2017-12-06 with total page 675 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Orphan Drugs and Rare Diseases written by David Pryde and published by Royal Society of Chemistry. This book was released on 2014-07-30 with total page 487 pages. Available in PDF, EPUB and Kindle. Book excerpt: Orphan drugs are designated drug substances that are intended to treat rare or ‘orphan’ diseases. More than 7000 rare diseases are known that collectively affect some 6-7% of the developed world’s population; however, individually, any single, rare disease may only affect a handful of people making them commercially unattractive for the biopharmaceutical industry to target. Ground breaking legislation, starting with the Orphan Drug Act that was passed in the US in 1983 to provide financial incentives for companies to develop orphan drugs, has sparked ever increasing interest from biopharmaceutical companies to tackle rare diseases. These developments have made rare diseases, and the orphan drugs that treat them, sufficiently attractive to pharmaceutical development and many pharmaceutical companies now have research units dedicated to this area of research. It is therefore timely to review the area of orphan drugs and some of the basic science, drug discovery and regulatory factors that underpin this important, and growing, area of biomedical research. Written by a combination of academic and industry experts working in the field, this text brings together expert authors in the regulatory, drug development, genetics, biochemistry, patient advocacy group, medicinal chemistry and commercial domains to create a unique and timely reference for all biomedical researchers interested in finding out more about orphan drugs and the rare diseases they treat. Providing an up-to-date monograph, this book covers the basic science, drug discovery and regulatory elements behind orphan drugs and will appeal to medicinal and pharmaceutical chemists, biochemists and anyone working within the fields of rare disease research and drug development or pharmaceuticals in industry or academia.
Download or read book NORD Guide to Rare Disorders written by National Organization for Rare Disorders and published by Lippincott Williams & Wilkins. This book was released on 2003 with total page 982 pages. Available in PDF, EPUB and Kindle. Book excerpt: NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. 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 complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
Download or read book Orphan Lung Diseases written by Vincent Cottin and published by Springer. This book was released on 2015-01-10 with total page 623 pages. Available in PDF, EPUB and Kindle. Book excerpt: Orphan Lung Diseases: A Clinical Guide to Rare Lung Disease provides a comprehensive, clinically focused textbook on rare and so-called ‘orphan’ pulmonary diseases. The book is oriented towards the diagnostic approach, including manifestations suggesting the disease, diagnostic criteria, methods of diagnostic confirmation, and differential diagnosis, with an overview of management.
Download or read book Rickettsial Diseases written by Didier Raoult and published by CRC Press. This book was released on 2007-04-26 with total page 400 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 conditions. Written from experts in the field from Europe, USA, Africa, and Asia, specialists analyze specific patho
Download or read book Genetic Counseling written by Usha Dave and published by Jaypee Brothers Medical Publishers. This book was released on 2021-12-31 with total page 499 pages. Available in PDF, EPUB and Kindle. Book excerpt:
