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Author: Claudia Gonzaga-Jauregui
Publisher: Academic Press
ISBN: 0128204362
Category : Medical
Languages : en
Pages : 318
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Book Description
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: Claudia Gonzaga-Jauregui
Publisher: Academic Press
ISBN: 0128204362
Category : Medical
Languages : en
Pages : 318
Get Book Here
Book Description
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: Claudia Gonzaga-Jauregui
Publisher: Elsevier
ISBN: 0128201401
Category : Medical
Languages : en
Pages : 316
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Book Description
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: Hans C. Andersson, MD
Publisher: Millbrook Press
ISBN: 1728411580
Category : Young Adult Nonfiction
Languages : en
Pages : 139
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Book Description
Over the past 50 years, scientists have made incredible progress in the application of genetic research to human health care and disease treatment. Innovative tools and techniques, including gene therapy and CRISPR-Cas9 editing, can treat inherited disorders that were previously untreatable, or prevent them from happening in the first place. You can take a DNA test to learn where your ancestors are from. Police officers can use genetic evidence to identify criminals—or innocents. And some doctors are using new medical techniques for unprecedented procedures. Genomics: A Revolution in Health and Disease Discovery delves into the history, science, and ethics behind recent breakthroughs in genetic research. Authors Whitney Stewart and Hans Andersson, MD, present fascinating case studies that show how real people have benefitted from genetic research. Though the genome remains full of mysteries, researchers and doctors are working hard to uncover its secrets and find the best ways to treat patients and cure diseases. The discoveries to come will inform how we target disease treatment, how we understand our health, and how we define our very identities.
Author: Xiaoyi Raymond Gao
Publisher: Academic Press
ISBN: 0128167270
Category : Science
Languages : en
Pages : 386
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Book Description
Genetics and Genomics of Eye Disease: Advancing to Precision Medicine thoroughly examines the latest genomics methods for studying eye disease, including complex eye disorders associated with multiple genes. GWAS, WES, WGS, RNA-sequencing, and transcriptome analysis as employed in ocular genomics are discussed in-depth, as are genomics findings tied to early-onset glaucoma, strabismus, age-related macular degeneration, adult-onset glaucoma, diabetic retinopathy, keratoconus, and leber congenital amaurosis, among other diseases. Research and clinical specialists offer guidance on conducting preventative screenings and counseling patients, as well as the promise of machine learning, computational statistics and artificial intelligence in advancing ocular genomics research. - Offers thorough guidance on conducting genetic and genomic studies of eye disease - Examines the genetic basis of a wide range of complex eye diseases and single-gene and Mendelian disorders - Discusses the application of genetic testing and genetic risk prediction in eye disease diagnosis and patient counseling
Author: Geoffrey S. Ginsburg
Publisher: Academic Press
ISBN: 0128006536
Category : Science
Languages : en
Pages : 379
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Book Description
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
Author: Dhavendra Kumar
Publisher: Academic Press
ISBN: 0127999221
Category : Science
Languages : en
Pages : 360
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Book Description
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
Author: Jeanette J. McCarthy
Publisher: McGraw Hill Professional
ISBN: 1259644146
Category : Medical
Languages : en
Pages : 230
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Book Description
Incorporate genomics into every applicable area of your clinical practice with this complete how-to guide Doody's Core Titles for 2021! Precision Medicine: A Guide to Genomics in Clinical Practice is a comprehensive, yet succinct overview of the practice of genomic medicine. It is written for general healthcare practitioners, specialists, and trainees with the goal of providing detailed guidance on how to incorporate genomic medicine into daily practice. Features that make this book valuable to every practice: Intentionally avoids excessive technical content and consistently emphasizes real-life patient care and decision support Follows the course of a human life, beginning before conception through pregnancy, childhood, and adulthood, discussing the current and future applications of genomics and precision medicine at each stage Organization allows healthcare providers to quickly and easily find the information relevant to their practice. The authors highlight common pitfalls – technical and ethical – that might complicate the delivery of quality genomic healthcare Enhanced by eleven valuable appendices that cover important topics ranging from the basics of genetics to ethical issues to regulation and reimbursement If you are searching for a clinically relevant, non-technical resource that will teach you how genomic medicine can and should be practiced in your specific field of interest, Precision Medicine: A Guide to Genomics in Clinical Practice belongs on your desk.
Author:
Publisher: Academic Press
ISBN: 0128178205
Category : Medical
Languages : en
Pages : 290
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Book Description
Genome Plasticity in Health and Disease provides a fully up-to-date overview on genome plasticity and its role in human physiology and disease. Following an introduction to the field, a diverse range of chapters cover genomic and epigenomic analysis and the use of model organisms and genomic databases in studies. Specific molecular and biochemical mechanisms of genome plasticity are examined, including somatic variants, De Novo variants, founder variations, isolated populations dynamics, copy-number variations, mobile elements, DNA methylation, histone modifications, transcription factors, non-coding RNAs, telomere dynamics and RNA editing. Later chapters explore disease relevance for cancer, as well as cardiovascular, neuropsychiatric, inflammatory, and endocrine disease, and associated pathways for drug discovery. - Examines the role of genome plasticity across a range of disease types, from cardiovascular disease, to cancer and neuropsychiatric disorders - Adopts an interdisciplinary approach, with expert contributions across the spectrum of basic science and disease relevance to drug discovery
Author: Brandon Colby MD
Publisher: Penguin
ISBN: 1101186771
Category : Health & Fitness
Languages : en
Pages : 340
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Book Description
Predictive medicine is the most exciting—and potentially groundbreaking—medical development in decades. Written by Brandon Colby, MD, a leader in the fields of predictive medicine and genetic testing, Outsmart Your Genes will empower you, the reader, with a clear understanding of exactly what predictive medicine entails and how it can be used today to protect your health as well as the health of those you love. Written in straightforward, nontechnical language, Outsmart Your Genes enables everyone, even those without any background in genetics or medicine, to understand the benefits of predictive medicine. Separating myth from fact and answering all the tough questions, Outsmart Your Genes clearly explains: How the revolutionary new medical specialty called predictive medicine analyzes your genes and provides you with clear solutions to protect your health and wellbeing. What the process will entail and how simple it is. For example, the process doesn’t even require blood or use needles – instead, all that’s needed in order to run the analysis is a small amount of your saliva. What your genes can reveal about your overall health and how we can use that information to provide you with a genetically tailored plan for preventing cancer, Alzheimer's, heart disease, obesity, and many other conditions. As opposed to just generalities, specific examples are given so that you’ll know exactly how medicine will improve your life. The many ways in-which learning about your genes can help you formulate a genetically tailored nutrition and athletic plan that may help you shed those extra pounds and stay trim and fit. How predictive medicine can help both prospective and current parents protect their children against SIDS and also help minimize the impact of and most effectively treat many other childhood diseases such as autism, asthma, dyslexia, obesity, and diabetes. Why analyzing your children’s genes may provide the best chance they have to fight against diseases that may not affect them until later in life, including Alzheimer’s, many forms of cancer (such as breast cancer and skin cancer), multiple sclerosis, and even hearing loss. How groundbreaking advancements in the fields of genetic analysis, including predictive medicine panels and disease matrix technology, allow you and your physician to avoid information overload and focus only on the information most relevant to you. The important concepts you need to understand before speaking with a doctor. The top five questions you need to ask in order to assess: The credibility of the laboratory doing the testing. The types of diseases included in the test. How thoroughly the test actually evaluates your risk for each of the diseases. Whether the information is provided in a way that makes it actionable. Whether the results will be delivered in a format that is straightforward and easy to understand.
Author: Roya Kelishadi
Publisher: Springer Nature
ISBN: 3030853578
Category : Science
Languages : en
Pages : 278
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Book Description
This book offers a comprehensive overview on lifestyle habits related to development of risk factors of chronic diseases. It provides a summary of the impacts of various modifiable factors that influence long-term health status. The accumulation of unhealthy lifestyle habits shows that over the life course, increasing the number, duration, and severity of unhealthy behaviors would increase the risk of disease development. This contributed volume highlights the fact that establishing a healthy lifestyle is easier and more effective than focusing on lifestyle change
