Prevention Diagnosis And Treatment Of Rare Disorders
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Prevention Diagnosis And Treatment Of Rare Disorders
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Author : Marc Marie Dooms
language : en
Publisher: Frontiers Media SA
Release Date : 2022-11-10
Prevention Diagnosis And Treatment Of Rare Disorders written by Marc Marie Dooms and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-11-10 with Science categories.
Rare Diseases And Orphan Drugs
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Author : Jules J. Berman
language : en
Publisher: Academic Press
Release Date : 2014-05-26
Rare Diseases And Orphan Drugs written by Jules J. Berman and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-05-26 with Medical categories.
Rare Diseases and Orphan Drugs shows that much of what we now know about common diseases has been achieved by studying rare diseases. It proposes that future advances in the prevention, diagnosis, and treatment of common diseases will come as a consequence of our accelerating progress in the field of rare diseases. Understanding the complex steps in the development of common diseases, such as cancer, cardiovascular disease, and metabolic diseases, has proven a difficult problem. Rare diseases, however, are often caused by aberrations of a single gene. In rare diseases, we may study how specific genetic defects can trigger a series of events that lead to the expression of a particular disease. 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. Chapters covering the number of common diseases are minimized, while rare diseases are introduced as single diseases or as members of diseases classes. After reading this book, readers will appreciate how further research into the rare diseases may lead to new methods for preventing, diagnosing, and treating all diseases, rare or common. Makes rare diseases relevant to clinicians and researchers by tying lessons learned about the rare diseases to our understanding of the common diseases Stresses basic pathologic mechanisms that account for human disease (e.g., disorders of cell development, replication, maintenance, function and structure), that can be understood without prior training in pathology Discusses advanced concepts in molecular biology and genetics in a simple, functional context appropriate for medical trainees and new researchers Offers insights into how further research into rare diseases may lead to new methods for preventing, diagnosing, and treating all diseases
Rare Diseases Epidemiology
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Author : Manuel Posada de la Paz
language : en
Publisher: Springer
Release Date : 2010-09-18
Rare Diseases Epidemiology written by Manuel Posada de la Paz and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010-09-18 with Medical categories.
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”.
Rare Diseases
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Author : Mani T. Valarmathi
language : en
Publisher: BoD – Books on Demand
Release Date : 2021-09-22
Rare Diseases written by Mani T. Valarmathi and has been published by BoD – Books on Demand this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-09-22 with Medical categories.
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.
Rare Disease Advocacy Groups And Their Significance In Diagnosis Management Treatment And Prevention Of Rare Diseases
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Author : Qurratulain Hasan
language : en
Publisher:
Release Date : 2020
Rare Disease Advocacy Groups And Their Significance In Diagnosis Management Treatment And Prevention Of Rare Diseases written by Qurratulain Hasan and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020 with Electronic books categories.
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.
Nord Guide To Rare Disorders
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Author : National Organization for Rare Disorders
language : en
Publisher: Lippincott Williams & Wilkins
Release Date : 2003
Nord Guide To Rare Disorders written by National Organization for Rare Disorders and has been published by Lippincott Williams & Wilkins this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003 with Medical categories.
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.
Rare Diseases
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Author :
language : en
Publisher:
Release Date : 2017
Rare Diseases written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017 with categories.
Rare diseases comprise from 5000 to 8000 lifethreatening or chronically debilitating diseases which together affect from 27 and 36 million people in the European Union. A lack of efficient treatment and accurate diagnosis for the majority of rare diseases represents an enormous unmet medical need and a major challenge for public health. The main challenge for policies and related R&I is to improve the lives of patients with rare diseases. This report demonstrates how the results of recent research and innovation (R&I) projects funded by the EU contribute to five areas of policy challenges related to rare diseases: Improving diagnosis, prevention and treatment of rare diseases; Facilitating the regulatory pathway for potential treatments; Effective and equal provision of healthcare for patients with rare diseases; Effective management and pooling of research and medical data to benefit all patients; Contributing to and benefiting from global collaboration. EU Framework Programmes have funded research on rare diseases for more than two decades. In FP7 and Horizon 2020, 164 projects have produced results and a selection of these were analysed in the context of the five policy challenges to develop five key policy recommendations.
Rare Diseases And Orphan Products
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Author : Institute of Medicine
language : en
Publisher: National Academies Press
Release Date : 2011-04-03
Rare Diseases And Orphan Products written by Institute of Medicine and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-04-03 with Medical categories.
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.
Rare Diseases Epidemiology Update And Overview
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Author : Manuel Posada de la Paz
language : en
Publisher: Springer
Release Date : 2017-12-06
Rare Diseases Epidemiology Update And Overview written by Manuel Posada de la Paz and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-12-06 with Medical categories.
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.
Rare Diseases Epidemiology
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Author : Manuel Posada de la Paz
language : en
Publisher: Springer
Release Date : 2012-11-07
Rare Diseases Epidemiology written by Manuel Posada de la Paz and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-11-07 with Medical categories.
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”.