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Genomics of Rare Diseases

Genomics of Rare Diseases
  • Author : Claudia Gonzaga-Jauregui,James R. Lupski
  • Publisher :Unknown
  • Release Date :2021-03-15
  • Total pages :304
  • ISBN : 9780128201404
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Summary : It is estimated that approximately 350 million people worldwide are affected by a rare disorder. While individually rare, as a group, rare diseases constitute a substantial healthcare problem. The majority of these rare diseases have a significant genetic component, either as a penetrant driver of the disorder or as a major susceptibility factor for developing the disease. Many patients can go undiagnosed for decades while receiving inappropriate and costly treatments for their condition uninformed by the actual molecular defect and the underlying biology of disease. Genomics of Rare Diseases: Understanding Rare Disease Genetics Through Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad but deep understanding of our current knowledge of rare diseases through a genomics lens and examines what this teaches us about disease biology. A clear understanding of the latest molecular and genomic technologies that have already been used to elucidate the molecular causes of more than 5,000 genetic disorders will bring readers closer to unraveling the many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that studying these disorders provide 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 methodology, 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

Rare Diseases: Diagnosis, Therapies and Hope

Rare Diseases: Diagnosis, Therapies and Hope
  • Author : Ana Sanfilippo and
  • Publisher :Unknown
  • Release Date :2017-04-20
  • Total pages :229
  • ISBN : 9781366067357
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Summary : 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.

Rare Diseases and Orphan Drugs

Rare Diseases and Orphan Drugs
  • Author : Jules J. Berman
  • Publisher :Unknown
  • Release Date :2014-05-26
  • Total pages :400
  • ISBN : 0124200095
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Summary : Rare Diseases and Orphan Drugs shows that much of what we now know about common diseases has been achieved by studying rare diseases. It proposes that future advances in the prevention, diagnosis, and treatment of common diseases will come as a consequence of our accelerating progress in the field of rare diseases. Understanding the complex steps in the development of common diseases, such as cancer, cardiovascular disease, and metabolic diseases, has proven a difficult problem. Rare diseases, however, are often caused by aberrations of a single gene. In rare diseases, we may study how specific genetic defects can trigger a series of events that lead to the expression of a particular disease. Often, the disease process manifested in a certain rare disease is strikingly similar to the disease process observed in a common disease. This work ties the lessons learned about rare diseases to our understanding of common ones. Chapters covering the number of common diseases are minimized, while rare diseases are introduced as single diseases or as members of diseases classes. After reading this book, readers will appreciate how further research into the rare diseases may lead to new methods for preventing, diagnosing, and treating all diseases, rare or common. Makes rare diseases relevant to clinicians and researchers by tying lessons learned about the rare diseases to our understanding of the common diseases Stresses basic pathologic mechanisms that account for human disease (e.g., disorders of cell development, replication, maintenance, function and structure), that can be understood without prior training in pathology Discusses advanced concepts in molecular biology and genetics in a simple, functional context appropriate for medical trainees and new researchers Offers insights into how further research into rare diseases may lead to new methods for preventing, diagnosing, and treating all diseases.

Genomic Disorders

Genomic Disorders
  • Author : James R. Lupski,Pawel T. Stankiewicz
  • Publisher :Unknown
  • Release Date :2007-11-10
  • Total pages :426
  • ISBN : 1597450391
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Summary : A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.

Role of Biomarkers in Medicine

Role of Biomarkers in Medicine
  • Author : Mu Wang,Frank Witzmann
  • Publisher :Unknown
  • Release Date :2016-08-17
  • Total pages :260
  • ISBN : 9535125052
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Summary : The use of biomarkers in basic and clinical research has become routine in many areas of medicine. They are accepted as molecular signatures that have been well characterized and repeatedly shown to be capable of predicting relevant disease states or clinical outcomes. In Role of Biomarkers in Medicine, expert researchers in their individual field have reviewed many biomarkers or potential biomarkers in various types of diseases. The topics address numerous aspects of medicine, demonstrating the current conceptual status of biomarkers as clinical tools and as surrogate endpoints in clinical research. This book highlights the current state of biomarkers and will aid scientists and clinicians to develop better and more specific biomarkers for disease management.

The Human Genome in Health and Disease

The Human Genome in Health and Disease
  • Author : Tore Samuelsson
  • Publisher :Unknown
  • Release Date :2019-02-07
  • Total pages :283
  • ISBN : 042966429X
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Summary : The human genome is a linear sequence of roughly 3 billion bases and information regarding this genome is accumulating at an astonishing rate. Inspired by these advances, The Human Genome in Health and Disease: A Story of Four Letters explores the intimate link between sequence information and biological function. A range of sequence-based functional units of the genome are discussed and illustrated with inherited disorders and cancer. In addition, the book considers valuable medical applications related to human genome sequencing, such as gene therapy methods and the identification of causative mutations in rare genetic disorders. The primary audiences of the book are students of genetics, biology, medicine, molecular biology and bioinformatics. Richly illustrated with review questions provided for each chapter, the book helps students without previous studies of genetics and molecular biology. It may also be of benefit for advanced non-academics, which in the era of personal genomics, want to learn more about their genome. Key selling features: Molecular sequence perspective, explaining the relationship between DNA sequence motifs and biological function Aids in understanding the functional impact of mutations and genetic variants Material presented at basic level, making it accessible to students without previous studies of genetics and molecular biology Richly illustrated with questions provided to each chapter

Rare Diseases and Orphan Products

Rare Diseases and Orphan Products
  • Author : Institute of Medicine,Board on Health Sciences Policy,Committee on Accelerating Rare Diseases Research and Orphan Product Development
  • Publisher :Unknown
  • Release Date :2011-04-03
  • Total pages :442
  • ISBN : 0309158060
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Summary : 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.

Human Genome Informatics

Human Genome Informatics
  • Author : Christophe Lambert,Darrol Baker,George P. Patrinos
  • Publisher :Unknown
  • Release Date :2018-08-02
  • Total pages :314
  • ISBN : 0128134313
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Summary : Human Genome Informatics: Translating Genes into Health examines the most commonly used electronic tools for translating genomic information into clinically meaningful formats. By analyzing and comparing interpretation methods of whole genome data, the book discusses the possibilities of their application in genomic and translational medicine. Topics such as electronic decision-making tools, translation algorithms, interpretation and translation of whole genome data for rare diseases are thoroughly explored. In addition, discussions of current human genome databases and the possibilities of big data in genomic medicine are presented. With an updated approach on recent techniques and current human genomic databases, the book is a valuable source for students and researchers in genome and medical informatics. It is also ideal for workers in the bioinformatics industry who are interested in recent developments in the field. Provides an overview of the most commonly used electronic tools to translate genomic information Brings an update on the existing human genomic databases that directly impact genome interpretation Summarizes and comparatively analyzes interpretation methods of whole genome data and their application in genomic medicine

Investigating the Human Genome

Investigating the Human Genome
  • Author : Moyra Smith
  • Publisher :Unknown
  • Release Date :2011-06-08
  • Total pages :256
  • ISBN : 0132172844
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Summary : Leading medical genetics scholar Moyra Smith reviews current and recent work in genetics and genomics to assess progress in understanding human variation and the pathogenesis of common and rare diseases in which genetics plays a role. Smith provides an exceptional overview of the most important biomedical progress arising from the greatly increased genetic information base generated by gene mapping and the sequencing of the complete Human Genome. This book addresses into a wide spectrum of topics associated with human genetics and genomics, including: Human origins; migrations and human population diversity gained though genomic analyses. The complexities of psychiatric diseases that are influenced by genetics. The pathogenesis of late-onset neurological diseases such as Alzheimer’s, Parkinsonism, and ALS. Key aspects of protein misfolding. Gene-environment interactions in DNA damage and repair and DNA instability. Micro RNAs and mRNA translation. Epigenetics. New functions for old enzymes in cancer.

The History and Geography of Human Genes

The History and Geography of Human Genes
  • Author : Luigi Luca Cavalli-Sforza,Paolo Menozzi,Alberto Piazza
  • Publisher :Unknown
  • Release Date :2018-06-05
  • Total pages :413
  • ISBN : 0691187266
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Summary : Hailed as a breakthrough in the understanding of human evolution, The History and Geography of Human Genes offers the first full-scale reconstruction of where human populations originated and the paths by which they spread throughout the world. By mapping the worldwide geographic distribution of genes for over 110 traits in over 1800 primarily aboriginal populations, the authors charted migrations and devised a clock by which to date evolutionary history. This monumental work is now available in a more affordable paperback edition without the myriad illustrations and maps, but containing the full text and partial appendices of the authors' pathbreaking endeavor.

Genomics, Circuits, and Pathways in Clinical Neuropsychiatry

Genomics, Circuits, and Pathways in Clinical Neuropsychiatry
  • Author : Thomas Lehner,Bruce L. Miller,Matthew W. State
  • Publisher :Unknown
  • Release Date :2016-06-07
  • Total pages :796
  • ISBN : 0128005300
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Summary : This foundational work comprehensively examines the current state of the genetics, genomics and brain circuitry of psychiatric and neurological disorders. It consolidates discoveries of specific genes and genomic regions associated with these conditions, the genetic and anatomic architecture of these syndromes, and addresses how recent advances in genomics are leading to a reappraisal of the biology underlying clinical neuroscience. In doing so, it critically examines the promise and limitations of these discoveries toward treatment, and to the interdisciplinary nature of understanding brain and behavior. Coverage includes new discoveries regarding autism, epilepsy, intellectual disability, dementias, movement disorders, language impairment, disorders of attention, schizophrenia, and bipolar disorder. Genomics, Circuits, and Pathways in Clinical Neuropsychiatry focuses on key concepts, challenges, findings, and methods in genetics, genomics, molecular pathways, brain circuitry, and related neurobiology of neurologic and psychiatric disorders. Provides interdisciplinary appeal in psychiatry, neurology, neuroscience, and genetics Identifies key concepts, methods, and findings Includes coverage of multiple disorders from autism to schizophrenia Reviews specific genes associated with disorders Discusses the genetic architecture of these syndromes Explains how recent findings are influencing the understanding of biology Clarifies the promise of these findings for future treatment

Genetics and Genomics of Eye Disease

Genetics and Genomics of Eye Disease
  • Author : Xiaoyi Raymond Gao
  • Publisher :Unknown
  • Release Date :2019-09-12
  • Total pages :383
  • ISBN : 0128167270
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Summary : 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

Genomics

Genomics
  • Author : Julian Parkhill,Sarah J. Lindsay,Phil Jones,Lia Chappell,Jonathon Roberts,Nancy Holroyd,Michal Spzak,Francesca (Wellcome Sanger Institute) Gale
  • Publisher :Unknown
  • Release Date :2020-04-15
  • Total pages :200
  • ISBN : 0198848382
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Summary : This Oxford Biology Primer will introduce students to the field of genomics and its applications. From the early days of the Human Genome Project, sequencing technology has rapidly developed and is now cheaper and more accessible than ever before. The resulting pervasive nature of these technologies make them more likely to be experienced by people as patients, consumers and citizens. The primer introduces the basic principles of genomics and then uses these to consider human genetics, through examples of some of the rare diseases linked to single genes. The impact of these rare diseases is far-reaching and the knowledge gained through genome sequencing is proving invaluable in their diagnosis. Genome sequencing is revolutionising the diagnosis and treatment of cancer, and the primer introduces students to some of the key breakthroughs which have taken place in recent years. These include the identification of specific genes indicating cancer risk, and the sequencing of tumours throughout treatment to identify further mutations and modify treatment accordingly. The primer aims to address a number of the ethical issues which are raised by this rapidly-growing area of biology. Students are challenged to consider some of the decisions they may need to make relating to these technologies in their own lives, and are given opportunities to explore different aspects of these issues in a way which allows discussion to be both informed and meaningful. The study of infectious disease is also feeling the impact of genomics: the primer discusses the concept of pathogen genome sequencing, and illustrates the various ways in which this can be used - for example, enabling us to find different solutions to infections, to track outbreaks of disease to their source, and to identify and possibly ultimately combat antibiotic resistance. Many of the major diseases which impact the global population are caused by parasites, which come in a wide variety of shapes and sizes. The primer introduces students to the importance of understanding parasite genomes. Parasite genome sequencing makes it possible to develop both new medicines, and new treatments such as gene drive systems to wipe out disease-causing mosquito populations. For many years, our views of classification and evolution have been based on observational techniques going back to Darwin and Linnaeus. Focusing on human evolution, the primer will open students' eyes to the ways in which genome sequencing is being used to reveal evolutionary links that have never before been recognised, and to elucidate the way humans spread out of Africa across the world. Students are not always aware of the role technological developments play in enabling the progress of science. The final chapter delves into how genome sequencing technologies have developed, considering both the speed of change in the technology, its implications for usefulness, availability and cost, and the growing issue of big data and how it can be manipulated. The different technologies described in this chapter are referenced throughout the book.

Applied Genomics and Public Health

Applied Genomics and Public Health
  • Author : George P. Patrinos
  • Publisher :Unknown
  • Release Date :2019-11-13
  • Total pages :404
  • ISBN : 0128136960
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Summary : Applied Genomics and Public Health examines the interdisciplinary and growing area of how evidence-based genomic knowledge can be applied to public health, population health, healthcare and health policies. The book gathers experts from a variety of disciplines, including life sciences, social sciences, and health care to develop a comprehensive overview of the field. In addition, the book delves into subjects such as pharmacogenomics, genethics, big data, data translation and analysis, economic evaluation, genomic awareness and education, sociology, pricing and reimbursement, policy measures and economic evaluation in genomic medicine. This book is essential reading for researchers and students exploring applications of genomics to population and public health. In addition, it is ideal for those in the biomedical sciences, medical sociologists, healthcare professionals, nurses, regulatory bodies and health economists interested in learning more about this growing field. Explores the growing application of genomics to population and public health Features internationally renowned contributors from a variety of related fields Contains chapters on important topics such as genomic data sharing, genethics and public health genomics, genomics and sociology, and regulatory aspects of genomic medicine and pharmacogenomics

Genes in Health and Disease

Genes in Health and Disease
  • Author : Atta-ur-Rahman
  • Publisher :Unknown
  • Release Date :2016-01-27
  • Total pages :210
  • ISBN : 1681081733
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Summary : Genome science or genomics is essential to advancing knowledge in the fields of biology and medicine. Specifically, researchers learn about the molecular biology behind genetic expression in living organisms and related methods of treating human genetic diseases (including gene therapy). Advances in Genome Science is an e-book series which provides a multi-disciplinary view of some of the latest developments in genome research, allowing readers to capture the essence and diversity of genomics in contemporary science. The fourth volume of this ebook series features a selection of articles covering the genetic mechanisms in the development of specific plants (orchids, thale cress), Prader-Willi Syndrome, enzyme genetics (tyrosine kinase inhibitors and fungal laccases) and much more.

Genetics and Genomics in Medicine

Genetics and Genomics in Medicine
  • Author : Tom Strachan,Judith Goodship,Patrick Chinnery
  • Publisher :Unknown
  • Release Date :2014-06-02
  • Total pages :544
  • ISBN : 1317594304
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Summary : Genetics and Genomics in Medicine is a new textbook written for undergraduate students, graduate students, and medical researchers that explains the science behind the uses of genetics and genomics in medicine today. Rather than focusing narrowly on rare inherited and chromosomal disorders, it is a comprehensive and integrated account of how geneti

Rare Diseases in the Age of Health 2.0

Rare Diseases in the Age of Health 2.0
  • Author : Rajeev K. Bali,Lodewijk Bos,Michael Christopher Gibbons,Simon Ibell
  • Publisher :Unknown
  • Release Date :2013-10-21
  • Total pages :292
  • ISBN : 3642386431
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Summary : This text focuses on various factors associated with orphan diseases and the influence and role of health information technologies. Orphan diseases have not been adopted by the pharmaceutical industry because they provide little financial incentive to treat or prevent it. It is estimated that 6,000-7,000 orphan diseases exist today; as medical knowledge continues to expand, this number is likely to become much greater. The book highlights the opportunities and challenges in this increasingly important area. The book explores new avenues which are opened by information technologies and Health 2.0, and highlights also economic opportunities of orphan disease medicine. The editors of this new book have international experience and competencies in the key areas of patient empowerment, healthcare and clinical knowledge management, healthcare inequalities and disparities, rare diseases and patient advocacy.

Rare Diseases

Rare Diseases
  • Author : Meral Özgüç
  • Publisher :Unknown
  • Release Date :2014-09-08
  • Total pages :208
  • ISBN : 9401792143
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Summary : 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.

Rare Diseases Epidemiology: Update and Overview

Rare Diseases Epidemiology: Update and Overview
  • Author : Manuel Posada de la Paz,Domenica Taruscio,Stephen C. Groft
  • Publisher :Unknown
  • Release Date :2017-12-06
  • Total pages :667
  • ISBN : 3319671448
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Summary : The fields of rare diseases research and orphan products development continue to expand with more products in research and development status. In recent years, the role of the patient advocacy groups has evolved into a research partner with the academic research community and the bio-pharmaceutical industry. Unique approaches to research and development require epidemiological data not previously available to assist in protocol study design and patient recruitment for clinical trials required by regulatory agencies prior to approval for access by patents and practicing physicians.

Genomic and Precision Medicine

Genomic and Precision Medicine
  • Author : Geoffrey S. Ginsburg,Huntington F Willard,Sean P. David
  • Publisher :Unknown
  • Release Date :2017-03-30
  • Total pages :370
  • ISBN : 0128006544
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Summary : 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

Handbook of Clinical Adult Genetics and Genomics

Handbook of Clinical Adult Genetics and Genomics
  • Author : Shweta Dhar,Sandesh Sreenath Chakravarthy Nagamani,Tanya Eble
  • Publisher :Unknown
  • Release Date :2020-04-10
  • Total pages :534
  • ISBN : 0128173459
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Summary : Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more. Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics Features chapter contributions from authors at leading adult genetics institutions in the US and abroad