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| financial help for rare diseases: Rare Diseases and Orphan Products Institute of Medicine, Board on Health Sciences Policy, Committee on Accelerating Rare Diseases Research and Orphan Product Development, 2011-04-03 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. |
| financial help for rare diseases: Registries for Evaluating Patient Outcomes Agency for Healthcare Research and Quality/AHRQ, 2014-04-01 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. |
| financial help for rare diseases: Rare Diseases Epidemiology: Update and Overview Manuel Posada de la Paz, Domenica Taruscio, Stephen C. Groft, 2017-12-06 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. |
| financial help for rare diseases: Rare Diseases Epidemiology Manuel Posada de la Paz, Stephen C. Groft, 2010-09-18 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”. |
| financial help for rare diseases: NORD Guide to Rare Disorders National Organization for Rare Disorders, 2003 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. |
| financial help for rare diseases: Rare Disease Drug Development Raymond A. Huml, 2021-11-08 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. |
| financial help for rare diseases: Orphan Drugs and Rare Diseases David Pryde, Michael J Palmer, 2014-07-30 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. |
| financial help for rare diseases: Healthcare Finance Andrew W. Lo, Shomesh E. Chaudhuri, 2022-11-15 Why healthcare finance? -- From the laboratory to the patient -- Present value relations -- Evaluating business opportunities -- Valuing bonds -- Valuing stocks -- Portfolio management and the cost of capital -- Therapeutic development and clinical trials -- Decision trees and real options -- Monte Carlo simulation -- Healthcare analytics -- Biotech venture capital -- Securitizing biomedical assets -- Pricing, value, and ethics -- Epilogue : a case study pf royalty pharma. |
| financial help for rare diseases: Report of the National Commission on Orphan Diseases National Commission on Orphan Diseases (U.S.), 1989 |
| financial help for rare diseases: Making Medicines Affordable National Academies of Sciences, Engineering, and Medicine, Health and Medicine Division, Board on Health Care Services, Committee on Ensuring Patient Access to Affordable Drug Therapies, 2018-03-01 Thanks to remarkable advances in modern health care attributable to science, engineering, and medicine, it is now possible to cure or manage illnesses that were long deemed untreatable. At the same time, however, the United States is facing the vexing challenge of a seemingly uncontrolled rise in the cost of health care. Total medical expenditures are rapidly approaching 20 percent of the gross domestic product and are crowding out other priorities of national importance. The use of increasingly expensive prescription drugs is a significant part of this problem, making the cost of biopharmaceuticals a serious national concern with broad political implications. Especially with the highly visible and very large price increases for prescription drugs that have occurred in recent years, finding a way to make prescription medicinesâ€and health care at largeâ€more affordable for everyone has become a socioeconomic imperative. Affordability is a complex function of factors, including not just the prices of the drugs themselves, but also the details of an individual's insurance coverage and the number of medical conditions that an individual or family confronts. Therefore, any solution to the affordability issue will require considering all of these factors together. The current high and increasing costs of prescription drugsâ€coupled with the broader trends in overall health care costsâ€is unsustainable to society as a whole. Making Medicines Affordable examines patient access to affordable and effective therapies, with emphasis on drug pricing, inflation in the cost of drugs, and insurance design. This report explores structural and policy factors influencing drug pricing, drug access programs, the emerging role of comparative effectiveness assessments in payment policies, changing finances of medical practice with regard to drug costs and reimbursement, and measures to prevent drug shortages and foster continued innovation in drug development. It makes recommendations for policy actions that could address drug price trends, improve patient access to affordable and effective treatments, and encourage innovations that address significant needs in health care. |
| financial help for rare diseases: To Comfort Always Edward Livingston Trudeau, 2016-11-15 Coming from a long line of doctors, it seemed natural that Edward Livingston Trudeau would follow in that path. Never did he dream that only shortly after returning from his honeymoon in 1871, he would be diagnosed with tuberculosis.Despite being devastated by the news, he spent the rest of his life in the research and treatment of tuberculosis, establishing the Adirondack Cottage Sanitarium at Saranac Lake. His laboratory there was the first in the United States dedicated to a better understanding of the disease.In this intensely interesting, inspiring, and often witty memoir, Dr. Trudeau relates the trials and victories of his professional and personal life. His long marriage was one of the bedrocks of his life.Among his most celebrated patients was author Robert Louis Stevenson, with whom he became friends. He also mentions an evening with Stevenson and Libby Custer (widow of General George Armstrong Custer) that was highly entertaining.As for living a life with illness, Trudeau says:I have had ample opportunity in the past forty years to get used to illness and suffering; but it took me a long time to learn, imperfectly though it be, that acquiescence is the only way for the tuberculous invalid to conquer fate. To cease to rebel and struggle, and to learn to be content with part of a loaf when one cannot have a whole loaf, though a hard lesson to learn, is good philosophy for the tuberculous invalid, and to his astonishment he often finds that what he considers the half-loaf, when acquiesced in, proves most satisfying. |
| financial help for rare diseases: Genomics of Rare Diseases Claudia Gonzaga-Jauregui, James R. Lupski, 2021-06-12 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 |
| financial help for rare diseases: Orphan Philip Reilly, 2015 This book is about the struggle to save the lives of children who, because of a roll of the genetic dice, are born with any one of more than several thousand rare genetic disorders. It recounts the now century long effort of small groups of physicians and scientists to take on some of these genetic diseases. In many cases just a few physician-scie |
| financial help for rare diseases: Skinny Liver Kristin Kirkpatrick, Ibrahim Hanouneh, 2017-01-24 Based on the latest research, Skinny Liver is an authoritative, easy-to-follow guide not just for your liver, but for your whole body. The liver is the seat of our overall health and wellness and the health of nearly every organ is intimately connected with our liver. A healthy liver is essential to a fully functioning body, but our modern sedentary lifestyle and unhealthy eating habits can truly damage the liver -- and damage our health overall. A silent health crisis is impacting one-third of the American population -- nonalcoholic fatty liver disease (NAFLD). Because its symptoms often don't manifest until the liver is seriously compromised, many people are not aware that they are at risk. Did you know that if you have fatty liver disease, you are more likely to develop cardiovascular disease (heart attack and stroke), and potentially several devastating conditions such as liver cirrhosis and liver cancer? Did you know that fat is as dangerous as alcohol to the liver? Award-winning dietitian Kristin Kirkpatrick and hepatologist Dr. Ibrahim Hanouneh have teamed up for a life-changing program that will help you achieve optimal health. Skinny Liver's four-week program shares the steps you can take to get your liver health back on track, with everything from exercise to healthy eating and other lifestyle changes--along with delicious liver-friendly recipes. |
| financial help for rare diseases: Assessing Genetic Risks Institute of Medicine, Committee on Assessing Genetic Risks, 1994-01-01 Raising hopes for disease treatment and prevention, but also the specter of discrimination and designer genes, genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings. |
| financial help for rare diseases: Precision Public Health Tarun Weeramanthri, Hugh Dawkins, Gareth Baynam, Matthew Bellgard, Ori Gudes, James Semmens, 2018-06-25 Precision Public Health is a new and rapidly evolving field, that examines the application of new technologies to public health policy and practice. It draws on a broad range of disciplines including genomics, spatial data, data linkage, epidemiology, health informatics, big data, predictive analytics and communications. The hope is that these new technologies will strengthen preventive health, improve access to health care, and reach disadvantaged populations in all areas of the world. But what are the downsides and what are the risks, and how can we ensure the benefits flow to those population groups most in need, rather than simply to those individuals who can afford to pay? This is the first collection of theoretical frameworks, analyses of empirical data, and case studies to be assembled on this topic, published to stimulate debate and promote collaborative work. |
| financial help for rare diseases: Amyloidosis Morie A. Gertz, S. Vincent Rajkumar, 2010-06-14 An up-to-date reference on this fascinating set of complex disorders, this book features the most comprehensive strategies for diagnosing, classifying, imaging, treating, and managing amyloidosis in multiple organ systems. Beneficial to the spectrum of practitioners from residents to sub-specialists, this book is a succinct authoritative text written by leaders in the field. The authors provide instruction on all forms of amyloidosis - including primary amyloidosis (AL), secondary amyloidosis (AA), and familial amyloidosis. With essential treatment algorithms, Amyloidosis: Diagnosis and Treatment is the gold-standard for all hematologists, oncologists, and internists caring for patients with this complex disease. |
| financial help for rare diseases: Mercies in Disguise Gina Kolata, 2017-03-21 [Kolata] is a gifted storyteller. Her account of the Baxleys... is both engrossing and distressing... Kolata's book raises crucial questions about knowledge that can be both vital and fatal, both pallative and dangerous. —Andrew Solomon, The New York Review of Books New York Times science reporter Gina Kolata follows a family through genetic illness and one courageous daughter who decides her fate shall no longer be decided by a genetic flaw. The phone rings. The doctor from California is on the line. “Are you ready Amanda?” The two people Amanda Baxley loves the most had begged her not to be tested—at least, not now. But she had to find out. If your family carried a mutated gene that foretold a brutal illness and you were offered the chance to find out if you’d inherited it, would you do it? Would you walk toward the problem, bravely accepting whatever answer came your way? Or would you avoid the potential bad news as long as possible? In Mercies in Disguise, acclaimed New York Times science reporter and bestselling author Gina Kolata tells the story of the Baxleys, an almost archetypal family in a small town in South Carolina. A proud and determined clan, many of them doctors, they are struck one by one with an inscrutable illness. They finally discover the cause of the disease after a remarkable sequence of events that many saw as providential. Meanwhile, science, progressing for a half a century along a parallel track, had handed the Baxleys a resolution—not a cure, but a blood test that would reveal who had the gene for the disease and who did not. And science would offer another dilemma—fertility specialists had created a way to spare the children through an expensive process. A work of narrative nonfiction, Mercies in Disguise is the story of a family that took matters into its own hands when the medical world abandoned them. It’s a story of a family that had to deal with unspeakable tragedy and yet did not allow it to tear them apart. And it is the story of a young woman—Amanda Baxley—who faced the future head on, determined to find a way to disrupt her family’s destiny. |
| financial help for rare diseases: Inequalities in Health Nir Eyal, 2013-10 Which inequalities in longevity and health among individuals, groups, and nations are unfair? And what priority should health policy attach to narrowing them? These essays by philosophers, economists, epidemiologists, and physicians attempt to determine how health inequalities should be conceptualized, measured, ranked, and evaluated. |
| financial help for rare diseases: Rare Diseases in the Age of Health 2.0 Rajeev K. Bali, Lodewijk Bos, Michael Christopher Gibbons, Simon Ibell, 2013-10-21 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. |
| financial help for rare diseases: Public Health Informatics and Information Systems J.A. Magnuson, Paul C. Fu, Jr., 2013-11-29 This revised edition covers all aspects of public health informatics and discusses the creation and management of an information technology infrastructure that is essential in linking state and local organizations in their efforts to gather data for the surveillance and prevention. Public health officials will have to understand basic principles of information resource management in order to make the appropriate technology choices that will guide the future of their organizations. Public health continues to be at the forefront of modern medicine, given the importance of implementing a population-based health approach and to addressing chronic health conditions. This book provides informatics principles and examples of practice in a public health context. In doing so, it clarifies the ways in which newer information technologies will improve individual and community health status. This book's primary purpose is to consolidate key information and promote a strategic approach to information systems and development, making it a resource for use by faculty and students of public health, as well as the practicing public health professional. Chapter highlights include: The Governmental and Legislative Context of Informatics; Assessing the Value of Information Systems; Ethics, Information Technology, and Public Health; and Privacy, Confidentiality, and Security. Review questions are featured at the end of every chapter. Aside from its use for public health professionals, the book will be used by schools of public health, clinical and public health nurses and students, schools of social work, allied health, and environmental sciences. |
| financial help for rare diseases: The Voice of 12,000 Patients. Experiences and Expectations of Rare Disease Patients on Diagnosis and Care in Europe , 2009 |
| financial help for rare diseases: Chasing My Cure David Fajgenbaum, 2019-09-10 LOS ANGELES TIMES AND PUBLISHERS WEEKLY BESTSELLER • The powerful memoir of a young doctor and former college athlete diagnosed with a rare disease who spearheaded the search for a cure—and became a champion for a new approach to medical research. “A wonderful and moving chronicle of a doctor’s relentless pursuit, this book serves both patients and physicians in demystifying the science that lies behind medicine.”—Siddhartha Mukherjee, New York Times bestselling author of The Emperor of All Maladies and The Gene David Fajgenbaum, a former Georgetown quarterback, was nicknamed the Beast in medical school, where he was also known for his unmatched mental stamina. But things changed dramatically when he began suffering from inexplicable fatigue. In a matter of weeks, his organs were failing and he was read his last rites. Doctors were baffled by his condition, which they had yet to even diagnose. Floating in and out of consciousness, Fajgenbaum prayed for a second chance, the equivalent of a dramatic play to second the game into overtime. Miraculously, Fajgenbaum survived—only to endure repeated near-death relapses from what would eventually be identified as a form of Castleman disease, an extremely deadly and rare condition that acts like a cross between cancer and an autoimmune disorder. When he relapsed while on the only drug in development and realized that the medical community was unlikely to make progress in time to save his life, Fajgenbaum turned his desperate hope for a cure into concrete action: Between hospitalizations he studied his own charts and tested his own blood samples, looking for clues that could unlock a new treatment. With the help of family, friends, and mentors, he also reached out to other Castleman disease patients and physicians, and eventually came up with an ambitious plan to crowdsource the most promising research questions and recruit world-class researchers to tackle them. Instead of waiting for the scientific stars to align, he would attempt to align them himself. More than five years later and now married to his college sweetheart, Fajgenbaum has seen his hard work pay off: A treatment he identified has induced a tentative remission and his novel approach to collaborative scientific inquiry has become a blueprint for advancing rare disease research. His incredible story demonstrates the potency of hope, and what can happen when the forces of determination, love, family, faith, and serendipity collide. Praise for Chasing My Cure “A page-turning chronicle of living, nearly dying, and discovering what it really means to be invincible in hope.”—Angela Duckworth, #1 New York Times bestselling author of Grit “[A] remarkable memoir . . . Fajgenbaum writes lucidly and movingly . . . Fajgenbaum’s stirring account of his illness will inspire readers.”—Publishers Weekly |
| financial help for rare diseases: Health Technology Assessment in Japan Isao Kamae, 2019-09-03 Representing the first book on the topic, this work offers the reader an introduction to the Japanese systems for health technology assessment (HTA) officially introduced by the Ministry of Health, Labour and Welfare (MHLW) in 2016. Policy and guidelines are discussed, with the relevant methods and conditions of cost-effectiveness analysis explained alongside. Numerous instructive examples and exercises, ranging from basic to advanced, impart valuable knowledge and insight on the quantitative methods for economic evaluation, which will appeal to both beginners and experts. This guidebook is authored by Japan’s foremost expert in HTA and pharmacoeconomics, with a view to strengthening the reader’s expertise in value-based healthcare and decision-making. The methods presented are essential to informing regulatory, local and patient decisions; as such, the book is equally recommended to industry and government, as well as academia, and anyone with an interest in Japanese HTA. |
| financial help for rare diseases: Myasthenia Gravis and Related Disorders Henry J. Kaminski, 2002-10-03 An international panel of expert clinicians and leading scientists comprehensively review the clinical and basic science of this disease and its relatives, including acquired neuromytonia and Lambert-Eaton syndrome. For the clinician, the book describes the wide range of signs and symptoms that make these diseases difficult to diagnose, review in depth the available diagnostic methods and their limitations, offer practical treatment recommendations based on years of experience, and discuss several promising treatments now emerging. For the basic scientist, the text illuminates neuromuscular structure and function, describes in detail the acetylcholine receptor (the central target of pathology in myasthenia gravis), and illuminates the autoimmune pathogenesis. |
| financial help for rare diseases: Laudato Si Pope Francis, 2015-07-18 “In the heart of this world, the Lord of life, who loves us so much, is always present. He does not abandon us, he does not leave us alone, for he has united himself definitively to our earth, and his love constantly impels us to find new ways forward. Praise be to him!” – Pope Francis, Laudato Si’ In his second encyclical, Laudato Si’: On the Care of Our Common Home, Pope Francis draws all Christians into a dialogue with every person on the planet about our common home. We as human beings are united by the concern for our planet, and every living thing that dwells on it, especially the poorest and most vulnerable. Pope Francis’ letter joins the body of the Church’s social and moral teaching, draws on the best scientific research, providing the foundation for “the ethical and spiritual itinerary that follows.” Laudato Si’ outlines: The current state of our “common home” The Gospel message as seen through creation The human causes of the ecological crisis Ecology and the common good Pope Francis’ call to action for each of us Our Sunday Visitor has included discussion questions, making it perfect for individual or group study, leading all Catholics and Christians into a deeper understanding of the importance of this teaching. |
| financial help for rare diseases: Rare Diseases Nicolas Sireau, 2017-09-08 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. |
| financial help for rare diseases: Handbook Integrated Care Volker Amelung, Viktoria Stein, Esther Suter, Nicholas Goodwin, Ellen Nolte, Ran Balicer, 2022-07-27 This handbook shares profound insights into the main principles and concepts of integrated care. It offers a multi-disciplinary perspective with a focus on patient orientation, efficiency, and quality by applying widely recognized management approaches to the field of healthcare. The handbook also highlights international best practices and shows how integrated care can work in various health systems. In the majority of health systems around the world, the delivery of healthcare and social care is characterised by fragmentation and complexity. Consequently, much of the recent international discussion in the fields of health policy and health management has focused on the topic of integrated care. “Integrated” acknowledges the complexity of patients’ needs and aims to meet them by taking into account both health and social care aspects. Changing and improving processes in a coordinated way is at the heart of this approach. The second edition offers new chapters on people-centredness, complexity theories and evaluation methods, additional management tools and a wealth of experiences from different countries and localities. It is essential reading both for health policymakers seeking inspiration for legislation and for practitioners involved in the management of public health services who want to learn from good practice. |
| financial help for rare diseases: Dengue World Health Organization, 2009 This publication is intended to contribute to prevention and control of the morbidity and mortality associated with dengue and to serve as an authoritative reference source for health workers and researchers. These guidelines are not intended to replace national guidelines but to assist in the development of national or regional guidelines. They are expected to remain valid for five years (until 2014), although developments in research could change their validity.--Publisher's description. |
| financial help for rare diseases: Thriving Blind Kristin Smedley, 2019-02-26 Stories of blind people who use creativity and determination to live the life of their dreams. Also includes lists of resources for advocacy, rehabilitation, recreation, and support systems for the blind. |
| financial help for rare diseases: Rare Diseases Zhan He Wu, 2020-03-25 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. |
| financial help for rare diseases: The Family Gene Joselin Linder, 2017-03-14 A riveting medical mystery about a young woman’s quest to uncover the truth about her likely fatal genetic disorder that opens a window onto the exploding field of genomic medicine When Joselin Linder was in her twenties her legs suddenly started to swell. After years of misdiagnoses, doctors discovered a deadly blockage in her liver. Struggling to find an explanation for her unusual condition, Joselin compared the medical chart of her father—who had died from a mysterious disease, ten years prior—with that of an uncle who had died under similarly strange circumstances. Delving further into the past, she discovered that her great-grandmother had displayed symptoms similar to hers before her death. Clearly, this was more than a fluke. Setting out to build a more complete picture of the illness that haunted her family, Joselin approached Dr. Christine Seidman, the head of a group of world-class genetic researchers at Harvard Medical School, for help. Dr. Seidman had been working on her family’s case for twenty years and had finally confirmed that fourteen of Joselin’s relatives carried something called a private mutation—meaning that they were the first known people to experience the baffling symptoms of a brand new genetic mutation. Here, Joselin tells the story of their gene: the lives it claimed and the future of genomic medicine with the potential to save those that remain. Digging into family records and medical history, conducting interviews with relatives and friends, and reflecting on her own experiences with the Harvard doctor, Joselin pieces together the lineage of this deadly gene to write a gripping and unforgettable exploration of family, history, and love. A compelling chronicle of survival and perseverance, The Family Gene is an important story of a young woman reckoning with her father’s death, her own mortality, and her ethical obligations to herself and those closest to her. |
| financial help for rare diseases: The Oxford Handbook of the Economics of the Biopharmaceutical Industry Patricia M. Danzon, Sean Nicholson, 2012-04-12 The biopharmaceutical industry has been a major driver of technological change in health care, producing unprecedented benefits for patients, cost challenges for payers, and profits for shareholders. As consumers and companies benefit from access to new drugs, policymakers around the globe seek mechanisms to control prices and expenditures commensurate with value. More recently the 1990s productivity boom of new products has turned into a productivity bust, with fewer and more modest innovations, and flat or declining revenues for innovative firms as generics replace their former blockbuster products. This timely volume examines the economics of the biopharmaceutical industry, with eighteen chapters by leading academic health economists. Part one examines the economics of biopharmaceutical innovation including determinants of the costs and returns to new drug development; how capital markets finance R&D and how costs of financing the biopharmaceutical industry compare to financing costs for other industries; the effects of safety and efficacy regulation by the Food and Drug Administration (FDA) and of price and reimbursement regulation on incentives for innovation; and the role of patents and regulatory exclusivities. Part two examines the market for biopharmaceuticals with chapters on prices and reimbursement in the US, the EU, and other industrialized countries, and in developing countries. It looks at the optimal design of insurance for drugs and the effects of cost sharing on spending and on health outcomes; how to measure the value of pharmaceuticals using pharmacoeconomics, including theory, practical challenges, and policy issues; how to measure pharmaceutical price growth over time and recent evidence; empirical evidence on the value of pharmaceuticals in terms of health outcomes; promotion of pharmaceuticals to physicians and consumers; the economics of vaccines; and a review of the evidence on effects of mergers, acquisitions and alliances. Each chapter summarizes the latest insights from theory and recent empirical evidence, and outlines important unanswered questions and areas for future research. Based on solid economics, it is nevertheless written in terms accessible to the general reader. The book is thus recommended reading for academic economists and non-economists, and for those in industry and policy who wish to understand the economics of this fascinating industry. |
| financial help for rare diseases: Evaluation of Biomarkers and Surrogate Endpoints in Chronic Disease Institute of Medicine, Food and Nutrition Board, Board on Health Sciences Policy, Board on Health Care Services, Committee on Qualification of Biomarkers and Surrogate Endpoints in Chronic Disease, 2010-06-25 Many people naturally assume that the claims made for foods and nutritional supplements have the same degree of scientific grounding as those for medication, but that is not always the case. The IOM recommends that the FDA adopt a consistent scientific framework for biomarker evaluation in order to achieve a rigorous and transparent process. |
| financial help for rare diseases: Newborn Screening for Pompe Disease Wuh-Liang Hwu, Yin-Hsiu Chien, Raymond Wang, 2021-09-02 Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment. The development of treatment with recombinant enzyme replacement therapy radically transformed the clinical trajectory of those affected, enabling long-term ventilator-free survival with resolution of cardiomyopathy. These positive clinical outcomes resulted in the implementation of newborn screening programs for Pompe disease across the world. This Special Issue highlights some of the experiences of Pompe screening programs worldwide and discusses public policy and ethical issues elicited by presymptomatic screening for Pompe disease. |
| financial help for rare diseases: Natural Language Processing for Global and Local Business Fatih Pinarbași, Nurdan Öncel Taşkıran, 2020 This book explores the theoretical and practical phenomenon of natural language processing through different languages and platforms in terms of today's conditions-- |
| financial help for rare diseases: Oxford Textbook of Epilepsy and Epileptic Seizures Samden Lhatoo, 2012-12-20 Part of the Oxford Textbooks in Clinical Neurology (OTCN) series, this volume covers the scientific basis, clinical diagnosis, and treatment of epilepsy and epileptic seizures, and is complemented by an online edition. |
| financial help for rare diseases: The Neuronal Ceroid Lipofuscinoses (Batten Disease) Sara Mole, Ruth Williams, Hans Goebel, 2011-03-10 The neuronal ceroid lipofuscinoses are an extremely rare group of inherited neurodegenerative diseases that primarily affect children. Core symptoms of these conditions typically include epilepsy, cognitive decline and visual failure. These diseases are so rare that professionals who come into contact with them need a consultative reference work that enables them to become expert, or identify who to contact for more details. Fully updated and revised, this second edition continues to be the definitive volume on this devastating group of disorders. Written by an international collection of authorities in the field, it provides invaluable advice on their diagnosis, patient care, and new treatments that are available. This new edition of the definitive reference text on the neuronal ceroid lipofuscinoses will prove useful for clinicians, family physicians, research scientists, diagnostic laboratories, families affected by the disease as well as by workers in industry planning translational research. |
| financial help for rare diseases: The Metabolic & Molecular Bases of Inherited Disease Charles R. Scriver, 2001 Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism. |
| financial help for rare diseases: International Ethical Guidelines for Health-Related Research Involving Humans Council for International Organizations of Medical Sciences (CIOMS), 2017-01-31 In the new 2016 version of the ethical guidelines, CIOMS provides answers to a number of pressing issues in research ethics. The Council does so by stressing the need for research having scientific and social value, by providing special guidelines for health-related research in low-resource settings, by detailing the provisions for involving vulnerable groups in research and for describing under what conditions biological samples and health-related data can be used for research.--Page 4 de la couverture. |
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