Read Books Online and Download eBooks, EPub, PDF, Mobi, Kindle, Text Full Free.
Rare And Not So Rare Genetic Disorders
Download Rare And Not So Rare Genetic Disorders full books in PDF, epub, and Kindle. Read online Rare And Not So Rare Genetic Disorders ebook anywhere anytime directly on your device. Fast Download speed and no annoying ads. We cannot guarantee that every ebooks is available!
Book Synopsis Rare Diseases and Orphan Products by : Institute of Medicine
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.
Author :Agency for Healthcare Research and Quality/AHRQ Publisher :Government Printing Office ISBN 13 :1587634333 Total Pages :385 pages Book Rating :4.5/5 (876 download)
Book Synopsis Registries for Evaluating Patient Outcomes by : Agency for Healthcare Research and Quality/AHRQ
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 385 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.
Book Synopsis Genomics of Rare Diseases by : Claudia Gonzaga-Jauregui
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 318 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 Orphan written by Philip Reilly and published by . This book was released on 2015 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: "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
Book Synopsis Mercies in Disguise by : Gina Kolata
Download or read book Mercies in Disguise written by Gina Kolata and published by Macmillan + ORM. This book was released on 2017-03-21 with total page 217 pages. Available in PDF, EPUB and Kindle. Book excerpt: "[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.
Book Synopsis Rare Genetic Diseases by : Theodore F. Thurmon
Download or read book Rare Genetic Diseases written by Theodore F. Thurmon and published by . This book was released on 1974 with total page 218 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author :National Organization for Rare Disorders Publisher :Lippincott Williams & Wilkins ISBN 13 :9780781730631 Total Pages :982 pages Book Rating :4.7/5 (36 download)
Book Synopsis NORD Guide to Rare Disorders by : National Organization for Rare Disorders
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 Rare Like Us written by Taylor Kane and published by Bookbaby. This book was released on 2019-09-02 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Taylor Kane was a daddy's girl from the moment she was born, smiling and cooing whenever her father was around and refusing to sleep until he held her in his arms. But shortly after she turned three years old, the unthinkable happened. Her father was diagnosed with a rare, genetic disease for which there was no cure. It wasn't long before he began to experience a number of bizarre and frightening symptoms, and young Taylor watched helplessly as the disease ravaged his body and mind, transforming him into a shell of the father she once knew: a man unable to walk, talk, swallow or understand what was going on around him. A man who no longer recognized her.Fast forward five years. Her beloved father now gone, nine-year-old Taylor is dealt another devastating blow when she learns that she is a genetic carrier of the disease that took her father's life. Not only will her future children have a fifty percent chance of inheriting the disease, she, too, faces the risk of developing symptoms of her own in the future. In Rare Like Us, Taylor, now a twenty-one-year-old college student, shares the invaluable lessons she learned growing up in a family plagued by a genetic disease so rare that most doctors have never seen it, much less heard of it. She recounts with raw honesty how she managed to conquer her childhood demons and come to terms with her grief and loss; how she transformed her pain into passion and purpose; and how she continues to strive to honor her father's legacy by living her life in a way that would make him proud. This compelling memoir of a young woman's resilience and determination will captivate and inspire not only those who have experienced the isolation and despair that comes with having a rare disease, but anyone who has struggled to find the silver lining in heartbreak or tragedy, or who is searching for hope in the face of an uncertain future.
Download or read book The Family Gene written by Joselin Linder and published by HarperCollins. This book was released on 2017-03-14 with total page 245 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
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.
Book Synopsis Cushing's Disease by : Edward R. Laws Jr
Download or read book Cushing's Disease written by Edward R. Laws Jr and published by Academic Press. This book was released on 2016-11-08 with total page 240 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cushing's Disease: An Often Misdiagnosed and Not So Rare Disorder reviews the epidemiology of Cushing's, including statistics on the incidence and prevalence of this disease. There are discussions of the signs and symptoms and the most common co-morbidities, such as diabetes mellitus, hypertension, osteoporosis, amenorrhea, and infertility. Surgical, medical, and radiotherapeutic treatments, including indications, results, risks, and complications, are reviewed. Also featured is a chapter on the patient's perspective, coping with Cushing's, quality of life, and psychosomatic issues. This book is essential reading for the wide range of physicians who treat patients with Cushing's disease symptoms, as well as biomedical researchers who investigate the etiology and mechanisms of rare genetic diseases, in particular rare endocrine disorders. - Reviews the basics of Cushing's disease and its interrelation with hormones, the brain, and bodily functions - Includes chapters on diagnosis, surgical, medical, and radiotherapeutic treatments, and variations in presentation, including cyclical disease - Presents the cognitive and emotional aspects of Cushing's and the long-term sequelae - Offers an important resource for physicians who are accustomed to treating individual symptoms rather than a disease complex - Reviews multidisciplinary management, and post-treatment management of Cushing's, including recommendations for Cushing's Centers of Excellence
Book Synopsis Rare Diseases by : Mani T. Valarmathi
Download or read book Rare Diseases written by Mani T. Valarmathi and published by BoD – Books on Demand. This book was released on 2021-09-22 with total page 152 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis An Ordinary Day by : Karen Haberberg
Download or read book An Ordinary Day written by Karen Haberberg and published by powerHouse Books. This book was released on 2017-10-24 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: An Ordinary Day is a documentation of the personal lives of courageous kids who have rare genetic conditions and their families who love and support them at all cost. 1 in 10 Americans are living with a rare genetic condition. The conditions that rule the lives of these families are often overlooked by society, but for millions of people it is a matter of foremost priority. This book sheds an important and compassionate light on these existences. Life often presents challenges that seem insurmountable. Children are not exempt from this, but often through their innocence and will we can find inspiration and hope. An Ordinary Day displays unforgettable photographs set against intimate conversations, documenting the lives of 27 children living with rare genetic conditions. Readers will fall in love with these children, share in their struggles and victories, and celebrate the life-affirming spirit captured in every image. The book invites us to connect with kids like Ethan, a nonverbal 7-year-old who learns to sign to communicate his needs, 5-year-old Madison who has taken her first steps after years of crawling, and Jonathan, a 9-year-old boy who finally learns to eat with a spoon after many failed trials. Tasks often taken for granted, are profound triumphs for children afflicted with rare genetic conditions. The every day moments captured in An Ordinary Day inspire awareness and empathy, while highlighting the commonalities between families with rare genetic conditions, and more deeply between us all. Poignant and revelatory, An Ordinary Day illuminates what it means to be a family.
Book Synopsis Rare Disease Drug Development by : Raymond A. Huml
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.
Book Synopsis Rare Diseases and Orphan Drugs by : Jules J. Berman
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
Book Synopsis Rare Diseases Epidemiology: Update and Overview by : Manuel Posada de la Paz
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 675 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.
Book Synopsis Assessing Genetic Risks by : Institute of Medicine
Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
