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.

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.

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.

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."

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.

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.

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.

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.

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.

This book illustrates, in a comprehensive manner, the most crucial principles involved in pharmacology and allied sciences. The title begins by discussing the historical aspects of drug discovery, with up to date knowledge on Nobel Laureates in pharmacology and their significant discoveries. It then examines the general pharmacological principles - pharmacokinetics and pharmacodynamics, with in-depth information on drug transporters and interactions. In the remaining chapters, the book covers a definitive collection of topics containing essential information on the basic principles of pharmacology and how they are employed for the treatment of diseases. Readers will learn about special topics in pharmacology that are hard to find elsewhere, including issues related to environmental toxicology and the latest information on drug poisoning and treatment, analytical toxicology, toxicovigilance, and the use of molecular biology techniques in pharmacology. The book offers a valuable resource for researchers in the fields of pharmacology and toxicology, as well as students pursuing a degree in or with an interest in pharmacology.