Advancing Genomics For Rare Disease Diagnosis And Therapy Development
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Advancing Genomics For Rare Disease Diagnosis And Therapy Development
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Author : Zhichao Liu
language : en
Publisher: Frontiers Media SA
Release Date : 2020-12-08
Advancing Genomics For Rare Disease Diagnosis And Therapy Development written by Zhichao Liu and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-12-08 with Science categories.
This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact.
Advancing Genomics For Rare Disease Diagnosis And Therapy Development Vol Ii
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Author : Weida Tong
language : en
Publisher: Frontiers Media SA
Release Date : 2023-09-07
Advancing Genomics For Rare Disease Diagnosis And Therapy Development Vol Ii written by Weida Tong and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-09-07 with Science categories.
Rare Diseases
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Author : Mani T. Valarmathi
language : en
Publisher: BoD – Books on Demand
Release Date : 2021-09-22
Rare Diseases written by Mani T. Valarmathi and has been published by BoD – Books on Demand this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-09-22 with Medical categories.
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.
Rare Diseases Diagnosis Therapies And Hope
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Author : Ana Sanfilippo and
language : en
Publisher:
Release Date : 2014-07-20
Rare Diseases Diagnosis Therapies And Hope written by Ana Sanfilippo and and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-07-20 with categories.
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 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 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 Blurb book price only.
Human Genetics And Genomics
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Author : Bruce R. Korf
language : en
Publisher: John Wiley & Sons
Release Date : 2012-11-19
Human Genetics And Genomics written by Bruce R. Korf and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-11-19 with Medical categories.
This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice ‘Hot topics’ boxes that focus on the latest developments in testing, assessment and treatment ‘Ethical issues’ boxes to prompt further thought and discussion on the implications of genetic developments ‘Sources of information’ boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.
Reaping The Benefits Of Genomic And Proteomic Research
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Author : National Research Council
language : en
Publisher: National Academies Press
Release Date : 2006-03-09
Reaping The Benefits Of Genomic And Proteomic Research written by National Research Council and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2006-03-09 with Science categories.
The patenting and licensing of human genetic material and proteins represents an extension of intellectual property (IP) rights to naturally occurring biological material and scientific information, much of it well upstream of drugs and other disease therapies. This report concludes that IP restrictions rarely impose significant burdens on biomedical research, but there are reasons to be apprehensive about their future impact on scientific advances in this area. The report recommends 13 actions that policy-makers, courts, universities, and health and patent officials should take to prevent the increasingly complex web of IP protections from getting in the way of potential breakthroughs in genomic and proteomic research. It endorses the National Institutes of Health guidelines for technology licensing, data sharing, and research material exchanges and says that oversight of compliance should be strengthened. It recommends enactment of a statutory exception from infringement liability for research on a patented invention and raising the bar somewhat to qualify for a patent on upstream research discoveries in biotechnology. With respect to genetic diagnostic tests to detect patient mutations associated with certain diseases, the report urges patent holders to allow others to perform the tests for purposes of verifying the results.
Medical And Health Genomics
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Author : Dhavendra Kumar
language : en
Publisher: Academic Press
Release Date : 2016-06-04
Medical And Health Genomics written by Dhavendra Kumar and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-06-04 with Science categories.
Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems
Genomic And Precision Medicine
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Author : Geoffrey S. Ginsburg
language : en
Publisher: Academic Press
Release Date : 2017-03-30
Genomic And Precision Medicine written by Geoffrey S. Ginsburg and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-03-30 with Science categories.
Genomic and Precision Medicine: Primary Care, Third Edition is an invaluable resource on the state-of-the-art tools, technologies and policy issues that are required to fully realize personalized health care in the area of primary care. One of the major areas where genomic and personalized medicine is most active is the realm of the primary care practitioner. Risk, family history, personal genomics and pharmacogenomics are becoming increasingly important to the PCP and their patients, and this book discusses the implications as they relate to primary care practitioners. Presents a comprehensive volume for primary care providers Provides succinct commentary and key learning points that will assist providers with their local needs for the implementation of genomic and personalized medicine Includes a current overview on major opportunities for genomic and personalized medicine in practice Highlights case studies that illustrate the practical use of genomics in the management in patients
Progress And Challenges In Precision Medicine
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Author : Mukesh Verma
language : en
Publisher: Academic Press
Release Date : 2016-12-22
Progress And Challenges In Precision Medicine written by Mukesh Verma and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-12-22 with Medical categories.
Progress and Challenges in Precision Medicine presents an insightful overview to the myriad factors of personalized and precision medicine. The availability of the human genome, large amounts of data on individual genetic variations, environmental interactions, influence of lifestyle, and cutting-edge tools and technologies for big-data analysis have led to the age of personalized and precision medicine. Bringing together a global range of experts on precision medicine, this book collects previously scattered information into one concise volume which covers the most important developments so far in precision medicine and also suggests the most likely avenues for future development. The book includes clinical information, informatics, public policy implications, and information on case studies. It is a useful reference and background work for students, researchers, and clinicians working in the biomedical and medical fields, as well as policymakers in the health sciences. Provides an overview of the growing field of precision medicine Contains chapters from geographically diverse experts in their field Explores important aspects of precision medicine, including applications, ethics, and development
Genomic And Precision Medicine
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Author : Geoffrey S. Ginsburg
language : en
Publisher: Academic Press
Release Date : 2022-04-09
Genomic And Precision Medicine written by Geoffrey S. Ginsburg and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-04-09 with Science categories.
Genomic and Precision Medicine: Oncology, Third Edition focuses on the applications of genome discovery as research points to personalized cancer therapies. Each chapter is organized to cover the application of genomics and personalized medicine tools and technologies to a) Risk Assessment and Susceptibility, b) Diagnosis and Prognosis, c) Pharmacogenomics and Precision Therapeutics, and d) Emerging and Future Opportunities in the field. Provides a comprehensive volume written and edited by oncology genomic specialists for oncology health providers Includes succinct commentary and key learning points that will assist providers with their local needs for implementation of genomic and personalized medicine into practice Presents an up-to-date overview on major opportunities for genomic and personalized medicine in practice Covers case studies that highlight the practical use of genomics in the management of patients