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Rare Diseases And Orphan Drugs

Author: Jules J. Berman
Publisher: Academic Press
ISBN: 0124200095
Size: 15.95 MB
Format: PDF
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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.

Precision Medicine And The Reinvention Of Human Disease

Author: Jules J. Berman
Publisher: Academic Press
ISBN: 0128143940
Size: 13.19 MB
Format: PDF, ePub
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Despite what you may have read in the popular press and in social media, Precision Medicine is not devoted to finding unique treatments for individuals, based on analyzing their DNA. To the contrary, the goal of Precision Medicine is to find general treatments that are highly effective for large numbers of individuals who fall into precisely diagnosed groups. We now know that every disease develops over time, through a sequence of defined biological steps, and that these steps may differ among individuals, based on genetic and environmental conditions. We are currently developing rational therapies and preventive measures, based on our precise understanding of the steps leading to the clinical expression of diseases. Precision Medicine and the Reinvention of Human Disease explains the scientific breakthroughs that have changed the way that we understand diseases, and reveals how medical scientists are using this new knowledge to launch a medical revolution. Clarifies the foundational concepts of Precision Medicine, distinguishing this field from its predecessors such as genomics, pharmacogenetics, and personalized medicine. Gathers the chief conceptual advances in the fields of genetics, pathology, and bioinformatics, and synthesizes a coherent narrative for the field of Precision Medicine. Delivers its message in plain language, and in a relaxed, conversational writing style, making it easy to understand the complex subject matter. Guides the reader through a coherent and logical narrative, gradually providing expertise and skills along the way. Covers the importance of data sharing in Precision Medicine, and the many data-related challenges that confront this fragile new field.

Orphan Drugs And Rare Diseases

Author: David C Pryde
Publisher: Royal Society of Chemistry
ISBN: 1782624201
Size: 28.66 MB
Format: PDF, Kindle
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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.

Rare Diseases And Orphan Products

Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309158060
Size: 59.33 MB
Format: PDF, Kindle
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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 In The Age Of Health 2 0

Author: Rajeev K. Bali
Publisher: Springer Science & Business Media
ISBN: 3642386431
Size: 65.40 MB
Format: PDF, ePub, Mobi
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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.

Genetik F R Dummies

Author: Tara Rodden Robinson
Publisher: John Wiley & Sons
ISBN: 3527811478
Size: 46.53 MB
Format: PDF, ePub
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Die Genetik ist eine der Naturwissenschaften, deren Wissen am schnellsten wächst und deren Erkenntnisse ständig in Bewegung und in der Diskussion sind. "Genetik für Dummies" erklärt, was überhaupt hinter diesem spannenden Thema steckt. Die Autorin Tara Rodden Robinson erklärt die Grundlagen der Vererbungslehre wie die Mendelschen Regeln, wie Zellen aufgebaut sind und sie sich teilen. Sie zeigt, wie die DNA aufgebaut ist, wie sie kopiert und richtig in Proteine übersetzt wird. Außerdem geht sie auf die Bedeutung der Genetik in der Humanmedizin ein, wie Genmutationen und Erbkrankheiten entstehen. Sie erläutert, was beim Klonen passiert und was sich überhaupt hinter dem Begriff Gentechnik verbirgt. Auch die heißen Themen wie Stammzellentherapie und der Einsatz der Genetik in der Rechtsmedizin werden behandelt.

Physicians Guide To Rare Diseases

Author: Jess G. Thoene
Publisher: Dowden Publishing
Size: 10.36 MB
Format: PDF, Mobi
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This classic reference, now with almost 900 disease descriptions, is edited by nationally known pediatrician Jess G. Thoene, M.D. & provides a quick, organized approach to identifying puzzling & unusual symptoms, giving patients the opportunity for early diagnosis & treatment. Special features include: * A full color atlas of visual clues, cross referenced to disease listings. * Thirteen separate specialty sections with an expert overview to introduce each section. Eminent clinicians from the outstanding research centers in rare diseases give you the current status of research & practical approaches to diagnosis & therapy of the rare diseases in that specialty. * Full reference to more than 250 orphan drugs. Each drug is cross referenced to the appropriate disease description. * Clear language for the Layperson. Though written for physicians, the descriptions of diseases, symptoms & treatments are clear & understandable for patients, educators & others outside the medical profession. Each disease description provides symptomatology, etiology, affected population & a comparison of related disorders. Each disease description contains a list of other resources to consult: voluntary agencies, units of the National Institutes of Health, research centers around the country, etc. Addresses & phone numbers are provided in a central reference. Library Journal: "...PHYSICIAN'S recommended for medical collections & public libraries with consumer health collections."