Advancing Genomics For Rare Disease Diagnosis And Therapy Development

Author : Zhichao Liu
Publisher : Frontiers Media SA
ISBN 13 : 2889661628
Total Pages : 297 pages
Book Rating : 4.26/5 ( download)

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Download or read book Advancing Genomics for Rare Disease Diagnosis and Therapy Development written by Zhichao Liu and published by Frontiers Media SA. This book was released on 2020-12-08 with total page 297 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Author : Weida Tong
Publisher : Frontiers Media SA
ISBN 13 : 283253323X
Total Pages : 400 pages
Book Rating : 4.39/5 ( download)

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Download or read book Advancing genomics for rare disease diagnosis and therapy development vol II written by Weida Tong and published by Frontiers Media SA. This book was released on 2023-09-07 with total page 400 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Author : Mani T. Valarmathi
Publisher :
ISBN 13 : 9781839694127
Total Pages : 0 pages
Book Rating : 4.22/5 ( download)

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Download or read book Rare Diseases written by Mani T. Valarmathi and published by . This book was released on 2021 with total page 0 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 : Bruce R. Korf
Publisher : John Wiley & Sons
ISBN 13 : 1118537661
Total Pages : 280 pages
Book Rating : 4.64/5 ( download)

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Download or read book Human Genetics and Genomics written by Bruce R. Korf and published by John Wiley & Sons. This book was released on 2012-11-19 with total page 280 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Author : National Research Council
Publisher : National Academies Press
ISBN 13 : 0309164885
Total Pages : 188 pages
Book Rating : 4.87/5 ( download)

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Download or read book Reaping the Benefits of Genomic and Proteomic Research written by National Research Council and published by National Academies Press. This book was released on 2006-03-09 with total page 188 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309158060
Total Pages : 442 pages
Book Rating : 4.60/5 ( download)

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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 : Geoffrey S. Ginsburg
Publisher : Academic Press
ISBN 13 : 0128006544
Total Pages : 370 pages
Book Rating : 4.42/5 ( download)

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Download or read book Genomic and Precision Medicine written by Geoffrey S. Ginsburg and published by Academic Press. This book was released on 2017-03-30 with total page 370 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Author : Raymond A. Huml
Publisher : Springer Nature
ISBN 13 : 3030786056
Total Pages : 418 pages
Book Rating : 4.52/5 ( download)

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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.

Author : National Research Council
Publisher : National Academies Press
ISBN 13 : 0309222222
Total Pages : 142 pages
Book Rating : 4.28/5 ( download)

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Download or read book Toward Precision Medicine written by National Research Council and published by National Academies Press. This book was released on 2012-01-16 with total page 142 pages. Available in PDF, EPUB and Kindle. Book excerpt: Motivated by the explosion of molecular data on humans-particularly data associated with individual patients-and the sense that there are large, as-yet-untapped opportunities to use this data to improve health outcomes, Toward Precision Medicine explores the feasibility and need for "a new taxonomy of human disease based on molecular biology" and develops a potential framework for creating one. The book says that a new data network that integrates emerging research on the molecular makeup of diseases with clinical data on individual patients could drive the development of a more accurate classification of diseases and ultimately enhance diagnosis and treatment. The "new taxonomy" that emerges would define diseases by their underlying molecular causes and other factors in addition to their traditional physical signs and symptoms. The book adds that the new data network could also improve biomedical research by enabling scientists to access patients' information during treatment while still protecting their rights. This would allow the marriage of molecular research and clinical data at the point of care, as opposed to research information continuing to reside primarily in academia. Toward Precision Medicine notes that moving toward individualized medicine requires that researchers and health care providers have access to very large sets of health- and disease-related data linked to individual patients. These data are also critical for developing the information commons, the knowledge network of disease, and ultimately the new taxonomy.

Author : Edenilson Brandl
Publisher : Edenilson Brandl
ISBN 13 :
Total Pages : 515 pages
Book Rating : 4./5 ( download)

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Download or read book Synthetic Biology, Genetics and Advanced Topics written by Edenilson Brandl and published by Edenilson Brandl. This book was released on with total page 515 pages. Available in PDF, EPUB and Kindle. Book excerpt: Synthetic Biology is a scientific discipline that has the potential to revolutionize the way we understand and manipulate life. Combining knowledge from biology, genetics, engineering and computing, Synthetic Biology opens up new possibilities for creating personalized biological systems, with applications ranging from regenerative medicine to the production of biofuels. In this book, we will explore the principles, techniques, and applications of synthetic biology, with the aim of providing a comprehensive and up-to-date overview of this ever-evolving field. Throughout the chapters, we will delve into the molecular foundations of Synthetic Biology, exploring the biological components and processes involved in building synthetic biological systems. We will present several applications of Synthetic Biology in different sectors, highlighting its role in the pharmaceutical industry, in the production of biofuels, in the development of personalized vaccines and in regenerative medicine. We will see how the manipulation of synthetic stem cells can revolutionize the area of tissue regeneration and how metabolic engineering allows us to design microorganisms capable of producing valuable compounds. Bioinformatics plays a crucial role in Synthetic Biology, and we will dedicate a chapter to exploring how the analysis of genomic data and the use of bioinformatics algorithms contribute to the advancement of this discipline. In addition, we will cover topics such as genome editing using CRISPR technology, synthetic protein engineering, and directed evolution in the laboratory. With the advancement of technology, it has become possible to manufacture living tissue in the laboratory, and we will discuss biofabrication and 3D printing of living tissue, as well as the use of microfluidics in the manipulation and analysis of synthetic biological systems on a microscopic scale. We will also address ethical and biosafety issues related to Synthetic Biology, recognizing the importance of a responsible approach in all its applications. This book is intended for students, researchers, and practitioners interested in exploring the frontiers of synthetic biology. We hope it will be an inspiring source of knowledge, awakening the curiosity and innovative spirit of all readers. We invite you to embark on this exciting journey through Synthetic Biology, in search of a deeper understanding of life and its transformative possibilities.