Rare Genetic Disorders

Author : Philip Reilly
Publisher :
ISBN 13 : 9781621821373
Total Pages : 0 pages
Book Rating : 4.74/5 ( download)

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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

Author : Claudia Gonzaga-Jauregui
Publisher : Academic Press
ISBN 13 : 0128204362
Total Pages : 316 pages
Book Rating : 4.68/5 ( download)

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Download or read book Genomics of Rare Diseases written by Claudia Gonzaga-Jauregui and published by Academic Press. This book was released on 2021-06-12 with total page 316 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions Explores opportunities for novel therapeutics Features chapter contributions from leading researchers and clinicians

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

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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 : Karen Haberberg
Publisher : powerHouse Books
ISBN 13 : 9781576878613
Total Pages : 0 pages
Book Rating : 4.19/5 ( download)

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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.

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

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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 : Joselin Linder
Publisher : HarperCollins
ISBN 13 : 0062378929
Total Pages : 245 pages
Book Rating : 4.27/5 ( download)

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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.

Author : Muhammad Umair
Publisher : Springer
ISBN 13 : 9789819993222
Total Pages : 0 pages
Book Rating : 4.29/5 ( download)

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Download or read book Rare Genetic Disorders written by Muhammad Umair and published by Springer. This book was released on 2024-04-13 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book introduces different Rare Genetic Disorders (RGDs), and challenges in their diagnosis. The chapters of the book discuss the emerging research and clinical approaches for the diagnosis of rare genetic disorders. It further reviews the future of genetic therapies for the treatment of rare genetic diseases and examine the recent advancements in the field of genetic testing for the diagnosis of these diseases. The book also covers the role of variants in the genome (genetic modifiers) that alleviate (suppress) or exacerbate (enhance) the severity of the disease, resulting in the variability of phenotypic outcomes. Further, the book examines different animal models for critical understanding of disease mechanisms, and the opportunity to evaluate the effect of therapeutic compounds in pre-clinical studies. The subsequent chapters present the state-of-the-art drug discovery strategies and biological approaches for the treatment of rare genetic disorders. Towards the end, the book reviews the current challenges in the diagnosis and treatment of the patients of rare genetic disorders and future opportunities. This book is useful for clinical geneticists, molecular and biochemical geneticists, researchers working in gene therapy and genome editing.

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)

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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 : Theodore F. Thurmon
Publisher :
ISBN 13 :
Total Pages : 218 pages
Book Rating : 4.06/5 ( download)

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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 : Meral Özgüç
Publisher : Springer
ISBN 13 : 9401792143
Total Pages : 219 pages
Book Rating : 4.41/5 ( download)

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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.