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 Rare Diseases and Orphan Drugs written by Jules J. Berman and published by Academic Press. This book was released on 2014-05-26 with total page 407 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book Genomics of Rare Diseases written by Claudia Gonzaga-Jauregui and published by Academic Press. This book was released on 2021-06-12 with total page 316 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions Explores opportunities for novel therapeutics Features chapter contributions from leading researchers and clinicians
Download or read book Rare and Uncommon Diseases written by Muhammad Imran Qadir and published by Cambridge Scholars Publishing. This book was released on 2018-10-16 with total page 168 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book explores a number of uncommon diseases, including autism, Asperger’s syndrome, carpal tunnel syndrome, Huntington’s disease, systemic lupus erythematosus, psychosis, rabies, psoriasis, and many more. Each disease is explained with regards to its symptoms, diagnosis, causes and treatment. Keywords are also included to provide a quick indication of the chapter. As such, this volume represents important introductory material for pharmacy, medical and dental students, and scholars in all other health sciences subjects.
Download or read book Registries for Evaluating Patient Outcomes written by Agency for Healthcare Research and Quality/AHRQ and published by Government Printing Office. This book was released on 2014-04-01 with total page 396 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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. For the purposes of this guide, a patient registry is an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for a population defined by a particular disease, condition, or exposure, and that serves one or more predetermined scientific, clinical, or policy purposes. A registry database is a file (or files) derived from the registry. Although registries can serve many purposes, this guide focuses on registries created for one or more of the following purposes: to describe the natural history of disease, to determine clinical effectiveness or cost-effectiveness of health care products and services, to measure or monitor safety and harm, and/or to measure quality of care. Registries are classified according to how their populations are defined. For example, product registries include patients who have been exposed to biopharmaceutical products or medical devices. Health services registries consist of patients who have had a common procedure, clinical encounter, or hospitalization. Disease or condition registries are defined by patients having the same diagnosis, such as cystic fibrosis or heart failure. The User’s Guide was created by researchers affiliated with AHRQ’s Effective Health Care Program, particularly those who participated in AHRQ’s DEcIDE (Developing Evidence to Inform Decisions About Effectiveness) program. Chapters were subject to multiple internal and external independent reviews.
Download or read book Rare Diseases written by Meral Özgüç and published by Springer. This book was released on 2014-09-08 with total page 219 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Rare Disease Drug Development written by Raymond A. Huml and published by Springer Nature. This book was released on 2021-11-08 with total page 418 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a broad overview of rare disease drug development. It offers unique insights from various perspectives, including third-party capital providers, caregivers, patient advocacy groups, drug development professionals, marketing and commercial experts, and patients. A unique reference, the book begins with narratives on the many challenges faced by rare disease patient and their caregivers. Subsequent chapters underscore the critical, multidimensional role of patient advocacy groups and the novel approaches to related clinical trials, investment decisions, and the optimization of rare disease registries. The book addresses various rare disease drug development processes by disciplines such as oncology, hematology, pediatrics, and gene therapy. Chapters then address the operational aspects of drug development, including approval processes, development accelerations, and market access strategies. The book concludes with reflections on the authors' case for real-world data and evidence generation in orphan medicinal drug development. Rare Disease Drug Development is an expertly written text optimized for biopharmaceutical R&D experts, commercial experts, third-party capital providers, patient advocacy groups, patients, and caregivers.
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 667 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 Extraordinary A Book for Children with Rare Diseases Mandarin written by Evren And Kara Ayik and published by Kara Ayik. This book was released on 2022-03-03 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 是什么让罕见病儿童非同寻常？ 聆听罕见病儿童埃夫伦自我成长的心路历程，探索问题答案！ 本书由母子联手创作，基于罕见病患者面临的挑战与机遇，就身份、包容与自我认知展开适合孩子的讨论。书中的经验全部是小作者作为超罕见病患者一路长大的亲身经历，旨在为小读者理解个人身份和罕见病对个人身份的正面影响提供指南。家庭成员和护理人员也可以积极参与孩子的探索过程，根据孩子的成长需求制定读书计划。 本书插图由获奖童书插画家伊恩-戴尔绘制。《非同寻常的你！》旨在通过其由衷的文字和敏感又真实的插画鼓舞、激励所有患有罕见病的孩子活出最美好的一生。 What makes a child with a rare disease extraordinary? Explore the answer to this question while sharing a conversation with Evren about what he has learned while growing up with his own rare disease. Written collaboratively by mother and son, this book opens up a child-friendly discussion about identity, inclusion, and self-concept in light of the challenges and silver linings of living with a rare disease. The gentle lessons draw on the co-author's first-hand experience of growing up with an ultra-rare disease and offer young readers a framework for understanding personal identity and how their rare diseases can help shape it in positive ways. Family members and caregivers are invited to share in this conversation and to customize the reading according to each young reader's developmental needs. Accompanied by sensitive yet realistic illustrations created by award-winning artist and children's book illustrator Ian Dale, the heartfelt messages introduced in Extraordinary! are intended to uplift and encourage any children living with rare diseases to live their very best lives.
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 Unusual Diseases with Common Symptoms written by Anthony M Szema and published by Springer. This book was released on 2017-11-16 with total page 238 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 human biology and immunology. These rare diseases must now be considered when the mundane diagnoses do not exactly fit the patient’s clinical history or treatment fails. Some of these diseases include: eosinophilic esophagitis, blastocystis hominis infection, and paromyces allergic fungal sinusitis. Chapters provide in depth clinical examples of a wide range of diseases affecting multiple organ systems. Each case is structured by: a vignette of the case, background / salient features of the case, diagnosis, treatment, key points, and questions to aid in critical thinking. Unusual Diseases with Common Symptoms: A Clinical Casebook is of great interest to practicing physicians and as a teaching resource for students and residents who will one day encounter conditions more complex than they initially appear.
Download or read book Physicians Guide to Rare Diseases written by Jess G. Thoene and published by Dowden Publishing. This book was released on 1995 with total page 1056 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 GUIDE...is recommended for medical collections & public libraries with consumer health collections."
Download or read book Anesthesia and Uncommon Diseases E Book written by Lee A Fleisher and published by Elsevier Health Sciences. This book was released on 2012-04-20 with total page 664 pages. Available in PDF, EPUB and Kindle. Book excerpt: Your awareness of uncommon diseases and possible complications is vital to successful anesthetic patient management. Anesthesia and Uncommon Diseases, 6th Edition, brings you up to date with new information on less commonly seen diseases and conditions, including the latest evidence and management guidelines. This unique medical reference book is essential for a complete understanding of today’s best options and potential difficulties in anesthesia. Improve your ability to successfully manage every patient, including those with rare diseases or conditions. Avoid complications with unique coverage of an important aspect of anesthetic management. Stay current with all-new chapters on adult congenital heart disease, rheumatic diseases, and the cancer patient, plus many more revisions throughout. Get outstanding visual guidance with hundreds of illustrations, now in full color.
Download or read book Innovative Methods for Rare Disease Drug Development written by Shein-Chung Chow and published by CRC Press. This book was released on 2020-11-11 with total page 286 pages. Available in PDF, EPUB and Kindle. Book excerpt: In the United States, a rare disease is defined by the Orphan Drug Act as a disorder or condition that affects fewer than 200,000 persons. For the approval of "orphan" drug products for rare diseases, the traditional approach of power analysis for sample size calculation is not feasible because there are only limited number of subjects available for clinical trials. In this case, innovative approaches are needed for providing substantial evidence meeting the same standards for statistical assurance as drugs used to treat common conditions. Innovative Methods for Rare Disease Drug Development focuses on biostatistical applications in terms of design and analysis in pharmaceutical research and development from both regulatory and scientific (statistical) perspectives. Key Features: Reviews critical issues (e.g., endpoint/margin selection, sample size requirements, and complex innovative design). Provides better understanding of statistical concepts and methods which may be used in regulatory review and approval. Clarifies controversial statistical issues in regulatory review and approval accurately and reliably. Makes recommendations to evaluate rare diseases regulatory submissions. Proposes innovative study designs and statistical methods for rare diseases drug development, including n-of-1 trial design, adaptive trial design, and master protocols like platform trials. Provides insight regarding current regulatory guidance on rare diseases drug development like gene therapy.
Download or read book Orphan Drugs and Rare Diseases written by David C Pryde and published by Royal Society of Chemistry. This book was released on 2014-07-30 with total page 350 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 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 Rare Diseases and Syndromes of the Spinal Cord written by Ibrahim M. Eltorai and published by Springer. This book was released on 2018-07-07 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive and up-to-date review of rare diseases and syndromes of the spinal cord, collected over the past forty years from all the world's literature. Each chapter in this volume is organized in the same easy-to-follow format, comprising definitions, incidence, etiology, clinical presentation, diagnosis, management, prognosis, and references. This book is aimed at medical students, residents, fellows, and junior attendings in spinal cord medicine, physical medicine, neurosurgery, orthopedics, oncology, emergency medicine, infectious disease, neurology, genetics, vascular surgery, and endocrinology, along with the numerous allied fields of physical therapy, nursing, occupational therapy, and biomedical researchers.
