Genomics of Rare Diseases

Genomics of Rare Diseases
Author: Claudia Gonzaga-Jauregui,James R. Lupski
Publsiher: Academic Press
Total Pages: 316
Release: 2021-06-12
ISBN 10: 0128204362
ISBN 13: 9780128204368
Language: EN, FR, DE, ES & NL

Genomics of Rare Diseases Book Review:

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

Genomics of Rare Diseases

Genomics of Rare Diseases
Author: Claudia Gonzaga-Jauregui,James R. Lupski
Publsiher: Elsevier
Total Pages: 316
Release: 2021-07-09
ISBN 10: 0128201401
ISBN 13: 9780128201404
Language: EN, FR, DE, ES & NL

Genomics of Rare Diseases Book Review:

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

Advancing Genomics for Rare Disease Diagnosis and Therapy Development

Advancing Genomics for Rare Disease Diagnosis and Therapy Development
Author: Zhichao Liu,Weida Tong,Tieliu Shi,Mike Mikailov,Ruth Roberts
Publsiher: Frontiers Media SA
Total Pages: 135
Release: 2020-12-08
ISBN 10: 2889661628
ISBN 13: 9782889661626
Language: EN, FR, DE, ES & NL

Advancing Genomics for Rare Disease Diagnosis and Therapy Development Book Review:

Applied Genomics and Public Health

Applied Genomics and Public Health
Author: George P. Patrinos
Publsiher: Academic Press
Total Pages: 404
Release: 2019-11-13
ISBN 10: 0128136960
ISBN 13: 9780128136966
Language: EN, FR, DE, ES & NL

Applied Genomics and Public Health Book Review:

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

Role of Biomarkers in Medicine

Role of Biomarkers in Medicine
Author: Mu Wang,Frank Witzmann
Publsiher: BoD – Books on Demand
Total Pages: 260
Release: 2016-08-17
ISBN 10: 9535125052
ISBN 13: 9789535125051
Language: EN, FR, DE, ES & NL

Role of Biomarkers in Medicine Book Review:

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.

Genomic Disorders

Genomic Disorders
Author: James R. Lupski,Pawel T. Stankiewicz
Publsiher: Springer Science & Business Media
Total Pages: 426
Release: 2007-11-10
ISBN 10: 1597450391
ISBN 13: 9781597450393
Language: EN, FR, DE, ES & NL

Genomic Disorders Book Review:

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.

The Human Genome in Health and Disease

The Human Genome in Health and Disease
Author: Tore Samuelsson
Publsiher: Garland Science
Total Pages: 283
Release: 2019-02-07
ISBN 10: 042966429X
ISBN 13: 9780429664298
Language: EN, FR, DE, ES & NL

The Human Genome in Health and Disease Book Review:

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

Precision Medicine and the Reinvention of Human Disease

Precision Medicine and the Reinvention of Human Disease
Author: Jules J. Berman
Publsiher: Academic Press
Total Pages: 398
Release: 2018-01-26
ISBN 10: 0128143940
ISBN 13: 9780128143940
Language: EN, FR, DE, ES & NL

Precision Medicine and the Reinvention of Human Disease Book Review:

Despite what you may have read in the popular press and in social media, Precision Medicine is not devoted to finding unique treatments for individuals, based on analyzing their DNA. To the contrary, the goal of Precision Medicine is to find general treatments that are highly effective for large numbers of individuals who fall into precisely diagnosed groups. We now know that every disease develops over time, through a sequence of defined biological steps, and that these steps may differ among individuals, based on genetic and environmental conditions. We are currently developing rational therapies and preventive measures, based on our precise understanding of the steps leading to the clinical expression of diseases. Precision Medicine and the Reinvention of Human Disease explains the scientific breakthroughs that have changed the way that we understand diseases, and reveals how medical scientists are using this new knowledge to launch a medical revolution. Clarifies the foundational concepts of Precision Medicine, distinguishing this field from its predecessors such as genomics, pharmacogenetics, and personalized medicine. Gathers the chief conceptual advances in the fields of genetics, pathology, and bioinformatics, and synthesizes a coherent narrative for the field of Precision Medicine. Delivers its message in plain language, and in a relaxed, conversational writing style, making it easy to understand the complex subject matter. Guides the reader through a coherent and logical narrative, gradually providing expertise and skills along the way. Covers the importance of data sharing in Precision Medicine, and the many data-related challenges that confront this fragile new field.

Understanding Genetics

Understanding Genetics
Author: Genetic Alliance,New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services
Publsiher: Lulu.com
Total Pages: 100
Release: 2009
ISBN 10: 0982162219
ISBN 13: 9780982162217
Language: EN, FR, DE, ES & NL

Understanding Genetics Book Review:

The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care, patient and professional education, and identification of specialty genetics services within the New York - Mid-Atlantic region. At the end of each section, a list of references is provided for additional information. Appendices can be copied for reference and offered to patients. These take-home resources are critical to helping both providers and patients understand some of the basic concepts and applications of genetics and genomics.

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
Publsiher: National Academies Press
Total Pages: 442
Release: 2011-04-03
ISBN 10: 0309158060
ISBN 13: 9780309158060
Language: EN, FR, DE, ES & NL

Rare Diseases and Orphan Products Book Review:

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.

Translational Cardiometabolic Genomic Medicine

Translational Cardiometabolic Genomic Medicine
Author: Annabelle Rodriguez-Oquendo
Publsiher: Academic Press
Total Pages: 352
Release: 2015-09-07
ISBN 10: 0128004746
ISBN 13: 9780128004746
Language: EN, FR, DE, ES & NL

Translational Cardiometabolic Genomic Medicine Book Review:

Translational Cardiometabolic Genomic Medicine, edited by Dr. Annabelle Rodriguez-Oquendo, is an important resource to postgraduate (medical, dental and graduate) students, postdoctoral fellows, basic scientists, and physician scientists seeking to understand and expand their knowledge base in the field of genomic medicine as it is applied to cardiometabolic diseases. This handbook integrates cutting-edge experimental approaches such as chromatin immunoprecipitation paired end tagging (CHIA-PET), to population studies such as the Multi-Ethnic Study of Atherosclerosis. It encompasses a range of book chapters that highlight bioinformatic approaches to better understanding functionality of the noncoding regions of the human genome to the use of molecular diagnostic testing in predicting increased risk of cardiovascular diseases. Where applicable, this reference also includes chapters related to therapeutic options specifically aligned to molecular targets. Provides comprehensive research on translational genomic medicine Explains state-of-the-art genome editing for stem cells and mouse models with significant relevance to human cardiometabolic disease Includes discussions on the functional effects of single nucleotide polymorphisms and cardiometabolic diseases, stratified by sex and race Encompasses a range of book chapters that highlight bioinformatic approaches to better understanding functionality of the noncoding regions of the human genome

Medical and Health Genomics

Medical and Health Genomics
Author: Dhavendra Kumar,Stylianos Antonarakis
Publsiher: Academic Press
Total Pages: 358
Release: 2016-06-04
ISBN 10: 0127999221
ISBN 13: 9780127999227
Language: EN, FR, DE, ES & NL

Medical and Health Genomics Book Review:

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

Clinical DNA Variant Interpretation

Clinical DNA Variant Interpretation
Author: Conxi Lázaro,Jordan Lerner-Ellis,Amanda Spurdle
Publsiher: Academic Press
Total Pages: 436
Release: 2021-02-27
ISBN 10: 0128205202
ISBN 13: 9780128205204
Language: EN, FR, DE, ES & NL

Clinical DNA Variant Interpretation Book Review:

Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, covers foundational aspects, modes of analysis, technology, disease and disorder specific case studies, and clinical integration. This book provides a deep theoretical background, as well as applied case studies and methodology, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes. Practical chapters discuss genomic variant interpretation, terminology and nomenclature, international consensus guidelines, population allele frequency, functional evidence transcripts for RNA, proteins, and enzymes, somatic mutations, somatic profiling, and much more. Compiles best practices, methods and sound evidence for DNA variant classification in one applied volume Features chapter contributions from international leaders in the field Includes practical examples of variant classification for common and rare disorders, and across clinical phenotypes

Rare Diseases Epidemiology Update and Overview

Rare Diseases Epidemiology  Update and Overview
Author: Manuel Posada de la Paz,Domenica Taruscio,Stephen C. Groft
Publsiher: Springer
Total Pages: 667
Release: 2017-12-06
ISBN 10: 3319671448
ISBN 13: 9783319671444
Language: EN, FR, DE, ES & NL

Rare Diseases Epidemiology Update and Overview Book Review:

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.

Perinatal Genetics

Perinatal Genetics
Author: Mary E Norton,Jeffrey A. Kuller,Lorraine Dugoff
Publsiher: Elsevier Health Sciences
Total Pages: 350
Release: 2019-01-23
ISBN 10: 0323530966
ISBN 13: 9780323530965
Language: EN, FR, DE, ES & NL

Perinatal Genetics Book Review:

Get a quick, expert overview of the fast-changing field of perinatal genetics with this concise, practical resource. Drs. Mary Norton, Jeffrey A. Kuller, Lorraine Dugoff, and George Saade fully cover the clinically relevant topics that are key to providers who care for pregnant women and couples contemplating pregnancy. It’s an ideal resource for Ob/Gyn physicians, maternal-fetal medicine specialists, and clinical geneticists, as well as midwives, nurse practitioners, and other obstetric providers. Provides a comprehensive review of basic principles of medical genetics and genetic counseling, molecular genetics, cytogenetics, prenatal screening options, chromosomal microarray analysis, whole exome sequencing, prenatal ultrasound, diagnostic testing, and more. Contains a chapter on fetal treatment of genetic disorders. Consolidates today’s available information and experience in this important area into one convenient resource.

The Genome Odyssey

The Genome Odyssey
Author: Dr. Euan Angus Ashley
Publsiher: Celadon Books
Total Pages: 352
Release: 2021-02-23
ISBN 10: 1250234972
ISBN 13: 9781250234971
Language: EN, FR, DE, ES & NL

The Genome Odyssey Book Review:

In The Genome Odyssey, Dr. Euan Ashley, Stanford professor of medicine and genetics, brings the breakthroughs of precision medicine to vivid life through the real diagnostic journeys of his patients and the tireless efforts of his fellow doctors and scientists as they hunt to prevent, predict, and beat disease. Since the Human Genome Project was completed in 2003, the price of genome sequencing has dropped at a staggering rate. It’s as if the price of a Ferrari went from $350,000 to a mere forty cents. Through breakthroughs made by Dr. Ashley’s team at Stanford and other dedicated groups around the world, analyzing the human genome has decreased from a heroic multibillion dollar effort to a single clinical test costing less than $1,000. For the first time we have within our grasp the ability to predict our genetic future, to diagnose and prevent disease before it begins, and to decode what it really means to be human. In The Genome Odyssey, Dr. Ashley details the medicine behind genome sequencing with clarity and accessibility. More than that, with passion for his subject and compassion for his patients, he introduces readers to the dynamic group of researchers and doctor detectives who hunt for answers, and to the pioneering patients who open up their lives to the medical community during their search for diagnoses and cures. He describes how he led the team that was the first to analyze and interpret a complete human genome, how they broke genome speed records to diagnose and treat a newborn baby girl whose heart stopped five times on the first day of her life, and how they found a boy with tumors growing inside his heart and traced the cause to a missing piece of his genome. These patients inspire Dr. Ashley and his team as they work to expand the boundaries of our medical capabilities and to envision a future where genome sequencing is available for all, where medicine can be tailored to treat specific diseases and to decode pathogens like viruses at the genomic level, and where our medical system as we know it has been completely revolutionized.

Human Genome Informatics

Human Genome Informatics
Author: Christophe Lambert,Darrol Baker,George P. Patrinos
Publsiher: Academic Press
Total Pages: 314
Release: 2018-08-02
ISBN 10: 0128134313
ISBN 13: 9780128134313
Language: EN, FR, DE, ES & NL

Human Genome Informatics Book Review:

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

Precision Public Health

Precision Public Health
Author: Tarun Weeramanthri,Hugh Dawkins,Gareth Baynam,Matthew Bellgard,Ori Gudes,James Semmens
Publsiher: Frontiers Media SA
Total Pages: 135
Release: 2018-06-25
ISBN 10: 2889455017
ISBN 13: 9782889455010
Language: EN, FR, DE, ES & NL

Precision Public Health Book Review:

Precision Public Health is a new and rapidly evolving field, that examines the application of new technologies to public health policy and practice. It draws on a broad range of disciplines including genomics, spatial data, data linkage, epidemiology, health informatics, big data, predictive analytics and communications. The hope is that these new technologies will strengthen preventive health, improve access to health care, and reach disadvantaged populations in all areas of the world. But what are the downsides and what are the risks, and how can we ensure the benefits flow to those population groups most in need, rather than simply to those individuals who can afford to pay? This is the first collection of theoretical frameworks, analyses of empirical data, and case studies to be assembled on this topic, published to stimulate debate and promote collaborative work.

Psychiatric Genomics

Psychiatric Genomics
Author: Evangelia Eirini Tsermpini,Martin Alda,George P. Patrinos
Publsiher: Academic Press
Total Pages: 418
Release: 2022-03-18
ISBN 10: 0128214007
ISBN 13: 9780128214008
Language: EN, FR, DE, ES & NL

Psychiatric Genomics Book Review:

Psychiatric Genomics presents and synthesizes available knowledge in the field of psychiatric genomics, offering methodologies to advance new research and aid clinical translation. After providing an introduction to genomics and psychiatry, international experts discuss the genomic basis of schizophrenia, bipolar disorder, depression, personality disorders, anxiety disorders, addictions, eating disorders, and sleep disorders, among other disorders. In addition, recommendations for next steps in clinical implementation and drug discovery are discussed in-depth, with chapters dedicated to pharmacogenomics and antipsychotics, antidepressants and mood stabilizers, adverse drug reactions, implementation of pharmacogenomics in psychiatric clinics, and ethical issues. Finally, methods sections provide a solid grounding in research approaches and computational analytics, from using animal models in psychiatric genomics and accessing biobanks, to employing computational analysis, genome-wide association studies (GWAS), brain pathophysiology, and endophenotypes in psychiatric research. Thoroughly examines the genetic mechanisms underlying a broad range of psychiatric disorders Offers genomic methodologies and analytical approaches supporting new research and clinical translation, including personalized diagnosis and treatment models Features chapter contributions from international leaders in the field

Rare Diseases

Rare Diseases
Author: Zhan He Wu
Publsiher: BoD – Books on Demand
Total Pages: 248
Release: 2020-03-25
ISBN 10: 1838800239
ISBN 13: 9781838800239
Language: EN, FR, DE, ES & NL

Rare Diseases Book Review:

Rare diseases are a group of genetic disorders occurring in a small percentage of the population with the conditions being chronic but incurable. Approximately 7000 to 8000 different types have been identified and about 350 million people globally are affected in childhood and adulthood, resulting in enormous physical, mental, and psychological suffering and financial burden. It is imperative for medical scientists, clinicians, communities, and societies to ensure appropriate care is applied to ease the suffering of such patients. The extraordinary and unprecedented hallmark in the field of rare diseases has revolutionized modern human medicine with exciting and advancing developments of the genomic era over the last two decades. Patients with rare diseases have been receiving increasing benefits in care and life quality improvements than ever before. This book intends to share and exchange the advancing knowledge and experiences from the authors, who have the necessary expertise within the various topics and subjects in the research, diagnosis, and management of rare diseases. It is hoped they are able to provide further benefits to patients and families with the development of early and accurate diagnosis and effective therapies.