Rare Diseases Diagnosis Therapies And Hope

Author : Ana Sanfilippo and
Publisher :
ISBN 13 : 9781366067494
Total Pages : pages
Book Rating : 4.95/5 ( download)

DOWNLOAD NOW!

Download or read book Rare Diseases: Diagnosis, Therapies and Hope written by Ana Sanfilippo and and published by . This book was released on 2017-04-12 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: This book gives readers a firsthand look at the impact genome sequencing and other advanced techniques are having on rare diseases. It is unique in that it goes beyond the clinical side of the topic and includes very personal stories told by the families living with rare diseases. "These rare diseases are collectively so common, affecting over 300 million globally," said co-author Jimmy Lin, MD, PhD, MHS. The key to assembling such a comprehensive resource was a year long process to examine the topic from all sides. The book brings together interviews with families that are currently battling rare diseases along with leading experts. The results of all this hard work is a valuable resource that will educate and inspire hope. "We are part of a growing movement to raise global awareness of rare diseases, and we are so pleased to be able to offer one of the early books for families living with rare diseases," said co-author Ana Sanfilippo. The book includes expert interviews and remarkable stories from families like: - Amylynne Volker whose son was the first child saved through DNA sequencing -Dallas police officer Mark Dant who raised over $3 million for research that saved his son Ryan's life -John Crowley, who saved his own children's lives through creating a new company to develop a new drug, which is now the standard of care -Retta Beery, whose twins, Noah and Alexis, are alive due to her own exhaustive medical research and genomics. Please note that there is no markup on the book.

Author : Ana Sanfilippo
Publisher :
ISBN 13 : 9781320056618
Total Pages : pages
Book Rating : 4.1X/5 ( download)

DOWNLOAD NOW!

Download or read book Rare Diseases: Diagnosis, Therapies and Hope written by Ana Sanfilippo and published by . This book was released on 2014-07-01 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: This book gives readers a firsthand look at the impact genome sequencing and other advanced techniques are having on rare diseases. It is unique in that it goes beyond the clinical side of the topic and includes very personal stories told by the families living with rare diseases. “These rare diseases are collectively so common, affecting over 300 million globally,” says co-author Dr. Jimmy Lin, MD, PhD, MHS. The key to assembling such a comprehensive resource was the year long process RGI undertook to examine the topic from all sides. The guide brings together interviews and visits with families that are currently battling rare diseases along with leading experts. The results of all this hard work is a valuable resource that will educate and inspire hope. “We are part of a growing movement to raise global awareness of rare diseases, and we are so pleased to be able to offer one of the early books for families living with rare diseases,” said the book’s co-author Ana Sanfilippo. The book includes twenty expert interviews and remarkable stories from families like: - Amylynne Volker, whose son was the first child saved through DNA sequencing - Dallas police officer Mark Dant who raised over $3M for research that saved his son Ryan’s life - John Crowley, who saved his own children’s lives through creating a new company to develop a new drug, which is now the standard of care - Retta Beery, whose twins, Noah and Alexis, are alive due to her own exhaustive medical research and genomics. Please note there is no markup on the book and that the price is the Amazon book price only.

Author : Muhammad Umair
Publisher : Springer Nature
ISBN 13 : 9819993237
Total Pages : 283 pages
Book Rating : 4.39/5 ( download)

DOWNLOAD NOW!

Download or read book Rare Genetic Disorders written by Muhammad Umair and published by Springer Nature. This book was released on with total page 283 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Author : Agency for Healthcare Research and Quality/AHRQ
Publisher : Government Printing Office
ISBN 13 : 1587634333
Total Pages : 396 pages
Book Rating : 4.38/5 ( download)

DOWNLOAD NOW!

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.

Author : Mani T. Valarmathi
Publisher : BoD – Books on Demand
ISBN 13 : 1839629304
Total Pages : 152 pages
Book Rating : 4.03/5 ( download)

DOWNLOAD NOW!

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.

Author : Emmanuel Joseph
Publisher :
ISBN 13 : 9782476019205
Total Pages : 0 pages
Book Rating : 4.08/5 ( download)

DOWNLOAD NOW!

Download or read book Rare Diseases written by Emmanuel Joseph and published by . This book was released on 2024-01-23 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Rare Diseases: Journeys of Hope, Resilience, and Progress" is an illuminating and comprehensive exploration of the world of rare diseases. Within its pages, readers will embark on a profound journey that delves into the unique challenges faced by individuals and families affected by these conditions. This book offers an in-depth look into the diverse and intricate landscape of rare diseases, shedding light on the triumphs, the challenges, and the incredible resilience of the human spirit. Rare diseases, often called orphan diseases, are a group of medical conditions that affect a relatively small number of individuals. These conditions are marked by their complexity, the uncertainty of diagnosis, and the scarcity of available treatments. Despite these obstacles, the rare disease community is united by hope and determination. In this book, readers will discover the remarkable stories of individuals who have faced the hurdles of rare diseases with courage, strength, and resilience.

Author : David Fajgenbaum
Publisher : Ballantine Books
ISBN 13 : 1524799629
Total Pages : 256 pages
Book Rating : 4.25/5 ( download)

DOWNLOAD NOW!

Download or read book Chasing My Cure written by David Fajgenbaum and published by Ballantine Books. This book was released on 2019-09-10 with total page 256 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Author : Gina Kolata
Publisher : Macmillan + ORM
ISBN 13 : 1250123992
Total Pages : 217 pages
Book Rating : 4.92/5 ( download)

DOWNLOAD NOW!

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.

Author : Denise Crompton
Publisher :
ISBN 13 : 9781937376178
Total Pages : 402 pages
Book Rating : 4.76/5 ( download)

DOWNLOAD NOW!

Download or read book Diagnosis written by Denise Crompton and published by . This book was released on 2014-10-20 with total page 402 pages. Available in PDF, EPUB and Kindle. Book excerpt: "This book follows the journey of 13 families who have one or more children with a rare disease called Mucolipidosis, as they wade through the erratic diagnosis process, medical muck-ups, endless pain, a plethora of medical appliances and home modifications, special education, multiple hospitalizations and surgeries, unrelenting stress and the ever-present fear of death. The book highlights how stoic, resilient, strong and resourceful these families are, and how heartless, or thoughtless, some medical professionals can be. It underlines the importance of networks to allow these isolated families to support each other and to give them a sense of belonging. Author Denise Crompton presents these stories in a style that is compassionate and easy to read. Other families with a rare disease will recognize themselves in this book. It is a must for medical professionals, especially those who want to understand the families and how to best work with them during these difficult times."--Publisher.

Author : Giorgio Di Giovanni
Publisher :
ISBN 13 : 9781629485256
Total Pages : 0 pages
Book Rating : 4.5X/5 ( download)

DOWNLOAD NOW!

Download or read book Rare Diseases written by Giorgio Di Giovanni and published by . This book was released on 2014 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: A rare disease is any disease that affects a small percentage of the population. Rare diseases can vary in prevalence between populations, so a disease that is rare in some populations may be common in others. This is especially true of genetic diseases and infectious diseases. In this book, the authors present current research on the diagnoses, challenges and developing treatments for rare diseases, from researchers across the globe. Topics discussed include commotio cordis, also known as cardiac concussion with described cases of ventricular fibrillation and sudden death from cardiac arrest; the clinical manifestations and pathophysiology of muscle-specific kinase (MuSK) myasthenia gravis (MG); neurological complications of histiocytosis; nail-patella syndrome; management of cardiac angiosarcoma; diagnosis and treatment of clear cell adenocarcinoma of the bladder; eosinophilic pancreatitis; non-traumatic splenic rupture; and alkaptonuria (AKU).