Mitochondrial Disease Genes Compendium

Mitochondrial Disease Genes Compendium
Author: Marni J. Falk
Publsiher: Academic Press
Total Pages: 424
Release: 2020-05
ISBN 10: 0128200294
ISBN 13: 9780128200292
Language: EN, FR, DE, ES & NL

Mitochondrial Disease Genes Compendium Book Review:

The field of Mitochondrial Medicine has been dominated by symptom constellation-based diagnostic categorization since the first clinical syndrome was described three decades ago. Now, as rapidly expanding knowledge has revealed that mitochondrial diseases may result from several hundred distinct gene disorders with extensive clinical and mutation heterogeneity, the most useful guide for clinical care and research embraces a gene-centric approach to each individual's disorder. Together with international colleagues, Dr. Marni Falk has developed the Mitochondrial Disease Sequence Data Resource (MSeqDR), an online, community curated, centralized data resource of mitochondrial disease data from a genomic perspective. MSeqDR provides tens of thousands of users with interactive access to mitochondrial disease feature descriptions in a defined human phenotype ontology, mitochondrial proteome-based gene and variant curation, and a suite of easily accessible tools to facilitate analysis of complex genomic datasets in nuclear and mitochondrial genomes as well as accurate interpretation of mitochondrial disease genes, variants, and diseases. Here, in the Mitochondrial Disease Genes Compendium, Dr. Marni Falk and a team of international experts have built off their work on MSeqDR to provide an all-in-one, readily accessible, and easy-to-use at point of care reference on mitochondrial disease from a gene-based perspective. In this book, clinicians and researchers will find a complete overview of mitochondrial disease genes relevant across all specialties, cataloging and building context around clinical features and the genetic basis of each condition. Within, each "gene page" offers an in-depth, referenced view of the relevant clinical disease spectrum, including gene and protein descriptions, year discovered, inheritance pattern(s), age ranges affected, major clinical features and severity range, clinical pearls, known therapies, available support groups, animal models, and gene-specific basic, translational, or clinical research activities now underway. Links provided on each gene page direct readers to MSeqDR for new findings, up-to-date genomic variant data, and user friendly informatics tools accessible to general clinicians and sophisticated geneticists or bioinformaticians alike, ensuring access to updated information on each condition. Covering 256 mitochondrial disease genes that have been expert-curated to assure they cause human diseases and have known mitochondrial localization or impact mitochondrial function, the Mitochondrial Disease Genes Compendium is directed at clinicians and researchers, facilitating bedside access to high-level, curated knowledge on mitochondrial disease genetics that rapidly enables patient diagnosis, counseling, management, treatment, and research.

Mitochondrial Disease Genes Compendium

Mitochondrial Disease Genes Compendium
Author: Marni J. Falk
Publsiher: Academic Press
Total Pages: 548
Release: 2020-04-28
ISBN 10: 0128200308
ISBN 13: 9780128200308
Language: EN, FR, DE, ES & NL

Mitochondrial Disease Genes Compendium Book Review:

The field of Mitochondrial Medicine has been dominated by symptom constellation-based diagnostic categorization since the first clinical syndrome was described three decades ago. Now, as rapidly expanding knowledge has revealed that mitochondrial diseases may result from several hundred distinct gene disorders with extensive clinical and mutation heterogeneity, the most useful guide for clinical care and research embraces a gene-centric approach to each individual’s disorder. Together with international colleagues, Dr. Marni Falk has developed the Mitochondrial Disease Sequence Data Resource (MSeqDR), an online, community curated, centralized data resource of mitochondrial disease data from a genomic perspective. MSeqDR provides tens of thousands of users with interactive access to mitochondrial disease feature descriptions in a defined human phenotype ontology, mitochondrial proteome-based gene and variant curation, and a suite of easily accessible tools to facilitate analysis of complex genomic datasets in nuclear and mitochondrial genomes as well as accurate interpretation of mitochondrial disease genes, variants, and diseases. Here, in the Mitochondrial Disease Genes Compendium, Dr. Marni Falk and a team of international experts have built off their work on MSeqDR to provide an all-in-one, readily accessible, and easy-to-use at point of care reference on mitochondrial disease from a gene-based perspective. In this book, clinicians and researchers will find a complete overview of mitochondrial disease genes relevant across all specialties, cataloging and building context around clinical features and the genetic basis of each condition. Within, each "gene page" offers an in-depth, referenced view of the relevant clinical disease spectrum, including gene and protein descriptions, year discovered, inheritance pattern(s), age ranges affected, major clinical features and severity range, clinical pearls, known therapies, available support groups, animal models, and gene-specific basic, translational, or clinical research activities now underway. Links provided on each gene page direct readers to MSeqDR for new findings, up-to-date genomic variant data, and user friendly informatics tools accessible to general clinicians and sophisticated geneticists or bioinformaticians alike, ensuring access to updated information on each condition. Covering 256 mitochondrial disease genes that have been expert-curated to assure they cause human diseases and have known mitochondrial localization or impact mitochondrial function, the Mitochondrial Disease Genes Compendium is directed at clinicians and researchers, facilitating bedside access to high-level, curated knowledge on mitochondrial disease genetics that rapidly enables patient diagnosis, counseling, management, treatment, and research. Provides a readily intelligible, all-in-one reference of known mitochondrial disease genes and their associated conditions Features live links to Mitochondrial Disease Sequence Data Resource (MSeqDR) pages with regularly updated genetic variant data and bioinformatics tools Covers the inheritance patterns, age spectrum affected, major clinical features, therapeutics, support groups, and research currently under way for over 250 mitochondrial diseases

Diagnosis and Management of Mitochondrial Disorders

Diagnosis and Management of Mitochondrial Disorders
Author: Michelangelo Mancuso,Thomas Klopstock
Publsiher: Springer
Total Pages: 382
Release: 2019-05-03
ISBN 10: 3030055175
ISBN 13: 9783030055172
Language: EN, FR, DE, ES & NL

Diagnosis and Management of Mitochondrial Disorders Book Review:

This book will help readers navigate the complexity of mitochondrial disorders, by addressing the role of mitochondrial dysfunction and the complex pathophysiological mechanisms associated with a growing number of illnesses, not only of neurological interest. Further, it provides updated concepts on genotype-phenotype correlations, clinical syndromes, diagnostic algorithms and therapies. Written by the world’s foremost mitochondrial researchers, the book comprehensively presents the state-of-the-art in mitochondrial medicine, making it of interest to a wide variety of specialists, including neurologists, geneticists, internists and biologists.

Mitochondrial Disorders Biochemical and Molecular Basis of Disease

Mitochondrial Disorders  Biochemical and Molecular Basis of Disease
Author: Grant M. Hatch
Publsiher: Frontiers Media SA
Total Pages: 135
Release: 2022-01-11
ISBN 10: 2889740218
ISBN 13: 9782889740215
Language: EN, FR, DE, ES & NL

Mitochondrial Disorders Biochemical and Molecular Basis of Disease Book Review:

Mitochondrial Parts Pathways and Pathogenesis

Mitochondrial Parts  Pathways  and Pathogenesis
Author: Sarah E. Calvo,Harvard University--MIT Division of Health Sciences and Technology
Publsiher: Unknown
Total Pages: 163
Release: 2009
ISBN 10: 1928374650XXX
ISBN 13: OCLC:551147715
Language: EN, FR, DE, ES & NL

Mitochondrial Parts Pathways and Pathogenesis Book Review:

Mitochondria are cellular compartments that perform essential roles in energy metabolism, ion homeostasis, and apoptosis. Mitochondrial dysfunction causes disease in 1 in 5,000 live births and also has been associated with aging, neurodegeneration, cancer, and diabetes. To systematically explore the function of mitochondria in health and in disease, it is necessary to identify all of the proteins resident in this organelle and to understand how they integrate into pathways. However, traditional molecular and biochemistry methods have identified only half of the estimated 1200 mitochondrial proteins, including the 13 encoded by the tiny mitochondrial genome. Now, newly available genomic technologies make it possible to identify the remainder and explore their roles in cellular pathways and disease. Toward this goal, we performed mass spectrometry, GFP tagging, and machine learning on multiple genomic datasets to create a mitochondrial compendium of 1098 genes and their protein expression across 14 mouse tissues. We linked poorly characterized proteins in this inventory to known mitochondrial pathways by virtue of shared evolutionary history. We additionally used our matched mRNA and protein measurements to demonstrate a widespread role of upstream open reading frames (uORFs) in blunting translation of mitochondrial and other cellular proteins. Next we used the mitochondrial protein inventory to identify genes underlying inherited diseases of mitochondrial dysfunction. In collaboration with clinicians, we identified causal mutations in five genes underlying diseases including hepatocerebral mtDNA depletion syndrome, autosomal dominant mitochondrial myopathy, and several forms of inherited complex I deficiency. These discoveries have enabled the development of diagnostic tests now widely available. More broadly, the mitochondrial compendium provides a foundation for systematically exploring the organelle's contribution to both basic cellular biology and human disease.

A Compendium of Inherited Disorders and the Eye

A Compendium of Inherited Disorders and the Eye
Author: Elias I. Traboulsi M.D.
Publsiher: Oxford University Press
Total Pages: 272
Release: 2005-12-01
ISBN 10: 0190291060
ISBN 13: 9780190291068
Language: EN, FR, DE, ES & NL

A Compendium of Inherited Disorders and the Eye Book Review:

During the past two decades, our understanding of the molecular genetics of inherited eye diseases, their classification, and management has undergone a huge expansion as the field of human genetics has benefited from technological advances and increased interest by physicians and scientists in all fields. As a result, the amount of clinical and basic-science information on inherited systemic and eye diseases has become so large that general ophthalmologists, ophthalmic subspecialists, and physicians in other fields have found it difficult to keep up. This volume will act as a guide because it catalogues all the latest information about genetic diseases that involve the eye and presents it in a practical and accessible format. After an introductory chapter that reviews basic clinical and molecular-genetic principles, individual diseases and groups of diseases are listed alphabetically in order to make it as easy as possible to search for an entry. The material in each entry is a synthesis of numerous articles and reviews on the topic, accompanied by at least one high-quality illustration, at least one webpage of a patient support group or other organization related to the disease, and references that provide the original description of the disease, an excellent review, or useful illustrations. There is also a companion website containing electronic copies of all the illustrations to make it easy to use them in lectures. Health-care professionals who need immediate access to clinical and basic-science information on inherited systemic and eye diseases will find this volume indispensable.

Mitochondrial Medicine

Mitochondrial Medicine
Author: Salvatore DiMauro,Michio Hirano,Eric A. Schon
Publsiher: CRC Press
Total Pages: 135
Release: 2019-11-26
ISBN 10: 9780367446369
ISBN 13: 0367446367
Language: EN, FR, DE, ES & NL

Mitochondrial Medicine Book Review:

Mitochondrial dysfunction is increasingly being recognized as the basis of a wide variety of human diseases. Providing an authoritative update on our current knowledge of mitochondrial medicine, this text draws together world authorities from various fields to present general therapeutic strategies, as well as the treatments presently available in different specialties - thus making it essential reading for clinicians involved with the management of patients with mitochondrial diseases. A unique work, this text covers a range of specialties, including cardiology, ophthalmology, otology, nephrology, gastroenterology, hematology-oncology, and reproductive medicine, and does not focus exclusively on the more commonly known neurologic conditions. An accessible, user-friendly text, it also presents translational concepts of mitochondrial biogenesis and genetics in vignettes related to specific questions raised by the disease under discussion, rather than concentrating on basic science, which can often intimidate clinicians. This pioneering work is primarily directed to a clinical audience who are interested in the diverse and diagnostically challenging clinical presentations of mitochondrial diseases and their pathophysiology.

Mitochondrial Disorders Caused by Nuclear Genes

Mitochondrial Disorders Caused by Nuclear Genes
Author: Lee-Jun C. Wong
Publsiher: Springer Science & Business Media
Total Pages: 372
Release: 2012-09-18
ISBN 10: 1461437229
ISBN 13: 9781461437222
Language: EN, FR, DE, ES & NL

Mitochondrial Disorders Caused by Nuclear Genes Book Review:

Mitochondrial cytopathies are mutations in the inherited maternal mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clinically heterogeneous diseases, due to the fact that protein components of the respiratory chain are encoded by both mitochondrial and nuclear genomes and are essential in all cells. In addition, the biogenesis, structure and function of mitochondria, including DNA replication, transcription, and translation, all require nuclear encoded genes. Since mitochondria are present in every cell, every tissue, mitochondrial disorder usually affects multiple organs.

The Radish Genome

The Radish Genome
Author: Takeshi Nishio,Hiroyasu Kitashiba
Publsiher: Springer
Total Pages: 220
Release: 2017-10-04
ISBN 10: 331959253X
ISBN 13: 9783319592534
Language: EN, FR, DE, ES & NL

The Radish Genome Book Review:

This book summarizes the latest information and the status quo of radish genome studies to stimulate innovations and improvements in breeding techniques and to promote further advances in the field. Radish (Raphanus sativus) is a member of the Brassicaceae family and is cultivated worldwide. Its varieties have been diversified in terms of size, shape, and the color of their roots and bio-components. Thanks to the development of high-throughput molecular techniques using next generation sequencers, complete genomes of cultivated and wild radish plants have been sequenced and published with annotations of predicted genes and single nucleotide polymorphism (SNP) information between radish cultivars and accessions. These, together with the construction of a high-density genetic map of radish and profiling of expression sequences in radish organs, have accelerated genetic studies, such as the identification of genes or loci associated with root development, pungent components, and plant disease resistance. Providing an overview of these advances, this book is a valuable resource for scientists involved in plant genetic research and crop breeding.

Compendium on Cardiomyopathies Basics Therapeutics and Perspectives

Compendium on Cardiomyopathies   Basics  Therapeutics  and Perspectives
Author: Jinfu Yang,Iroegbu Chukwuemeka Daniel
Publsiher: Bentham Science Publishers
Total Pages: 351
Release: 2020-01-28
ISBN 10: 9811432333
ISBN 13: 9789811432330
Language: EN, FR, DE, ES & NL

Compendium on Cardiomyopathies Basics Therapeutics and Perspectives Book Review:

Compendium on Cardiomyopathies provides an easily readable source of material for practicing physicians, clinicians, cardiologists, intensivists and emergency medicine specialists. It presents an overview of different cardiomyopathies with information known from the past to the present. Chapters cover different kinds of cardiomyopathies: hypertrophic cardiomyopathies, pediatric cardiomyopathies, arrhythmogenic right ventricular cardiomyopathy, inherited cardiomyopathies, Chagas disease, Takotsubo cardiomyopathy and more. Readers will be informed about current research on different aspects of these cardiomyopathies such as etiology, important imaging methods used in diagnosis and treatment, genetics and clinical management. This compendium also introduces the reader to new terms describing groups of cardiomyopathies to enable them to apply modern clinical management principles while treating patients.

Compendium of Selected Publications

Compendium of Selected Publications
Author: American College of Obstetricians and Gynecologists
Publsiher: Unknown
Total Pages: 135
Release: 2007
ISBN 10: 1928374650XXX
ISBN 13: UOM:39015045511352
Language: EN, FR, DE, ES & NL

Compendium of Selected Publications Book Review:

A compilation of selected ACOG clinical practice guidelines.

Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics

Emery and Rimoin   s Principles and Practice of Medical Genetics and Genomics
Author: Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
Publsiher: Academic Press
Total Pages: 790
Release: 2020-09-30
ISBN 10: 0128126833
ISBN 13: 9780128126837
Language: EN, FR, DE, ES & NL

Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics Book Review:

For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world’s most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. In Metabolic Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetic basis of body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers. Wholly revised and up-to-date, this volume thoroughly addresses medical genetics and genomics as applied to metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and treatment methods Provides genetic researchers, students, and health professionals with up-to-date coverage on the genetic basis of a range of metabolic disorders, including body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics A robust companion website offers lecture slides, image banks, and links to outside resources and articles to stay up-to-date on the latest developments in the field

The ABC Transporters of Human Physiology and Disease

The ABC Transporters of Human Physiology and Disease
Author: Kenneth J. Linton,I. B. Holland
Publsiher: World Scientific
Total Pages: 451
Release: 2011
ISBN 10: 9814280062
ISBN 13: 9789814280068
Language: EN, FR, DE, ES & NL

The ABC Transporters of Human Physiology and Disease Book Review:

ATP Binding Cassette (ABC) transporters are a family of integral membrane proteins that are likely to be represented in all the cells of all species of archaea, eubacteria and eukaryota. The vast majority of these proteins control the transport of molecules (from small hydrophilic ions to lipids and proteins) across cellular membranes. The human genome encodes 48 ABC transporters and most have been shown to underlie one or more human diseases. This book that brings together state-of-the-art knowledge on proteins in one volume will provide students, professors and medical professionals with a background to the human ABC transporters that are known to be relevant to diseases. Each of the 14 chapters is written by a leading researcher in the field and includes contributions from Joe Bryan and Lydia Aguilar-Bryan, Kazu Ueda, Jack Riordan and Robert Tamp. The genetics, structure and function of the proteins, and the future direction of research including the implications for human health are discussed in depth.

Modern Medical Genetics and Genomics

Modern Medical Genetics and Genomics
Author: Israel Gomy
Publsiher: BoD – Books on Demand
Total Pages: 104
Release: 2019-12-18
ISBN 10: 183968142X
ISBN 13: 9781839681424
Language: EN, FR, DE, ES & NL

Modern Medical Genetics and Genomics Book Review:

The field of medical genetics and genomics has been constantly revolutionized by new breakthroughs, which bring more knowledge into the etiology and help improve the health care of individuals with either rare or common diseases. Nevertheless, as technologies evolve, novel challenges emerge, both technically and ethically, so they must be prudentially addressed. Among the myriad applications of genomics in medicine, this book depicts a glimpse of the advances achieved that have been leading us to the personalized/precision medicine era.

Sequence Specific DNA Binders for the Therapy of Mitochondrial Diseases

Sequence Specific DNA Binders for the Therapy of Mitochondrial Diseases
Author: Takuya Hidaka
Publsiher: Springer Nature
Total Pages: 104
Release: 2022
ISBN 10: 9811684367
ISBN 13: 9789811684364
Language: EN, FR, DE, ES & NL

Sequence Specific DNA Binders for the Therapy of Mitochondrial Diseases Book Review:

This book describes the author's work on the development of sequence-specific DNA binders for the therapy of mitochondrial diseases. In the first chapter, the author provides a detailed background of pyrrole-imidazole polyamides (PIPs) and mitochondrial disease research followed by chapters presenting the author's own research and discoveries. Firstly, the developed compounds called MITO-PIPs, which recognize specific sequences in mitochondrial DNA, are presented. The following chapter demonstrates how, by introducing a DNA alkylating reagent into a MITO-PIP that recognizes the adjacent sequence to a target mutation, the copy number of mutated mitochondrial DNA was successfully reduced in live cells. Furthermore, because nuclear DNA is another important target for treating mitochondrial diseases, the author demonstrated that tri-arginine vectors can enhance nuclear uptake of PIPs and improve their biological activity in cells. This work will attract readers' interest because it paves the way for a transgene-free chemical gene therapy for mitochondrial diseases. The book includes a detailed description of experimental procedures, especially compound synthesis. This description helps readers to have a clear image of the author's studies and to perform similar and extended studies themselves.

The Mango Genome

The Mango Genome
Author: Chittaranjan Kole
Publsiher: Springer Nature
Total Pages: 228
Release: 2021-03-27
ISBN 10: 3030478297
ISBN 13: 9783030478292
Language: EN, FR, DE, ES & NL

The Mango Genome Book Review:

This book represents the first comprehensive compilation of deliberations on botany; genetic resources; genetic diversity analysis; classical genetics & traditional breeding; in vitro culture & genetic transformation; detailed information on molecular maps & mapping of economic genes and QTLs; whole genome sequencing of the nuclear genome and sequencing of chloroplast genome; and elucidation of functional genomics. It also addresses alternate flowering, a unique problem in mango, and discusses currently available genomic resources and databases. Gathering contributions by globally reputed experts, the book will benefit the students, teachers, and scientists in academia and at private companies interested in horticulture, genetics, breeding, pathology, entomology, physiology, molecular genetics and breeding, in vitro culture & genetic engineering, and structural and functional genomics.

Mitochondrial Dynamics in Cardiovascular Medicine

Mitochondrial Dynamics in Cardiovascular Medicine
Author: Gaetano Santulli
Publsiher: Springer
Total Pages: 646
Release: 2017-05-25
ISBN 10: 3319553305
ISBN 13: 9783319553306
Language: EN, FR, DE, ES & NL

Mitochondrial Dynamics in Cardiovascular Medicine Book Review:

This text covers the basic principles of mitochondrial dynamics in cardiovascular medicine, with particular emphasis on their functional roles in physiology and disease. The book will include articles pertaining to mitochondrial fitness on a global basis, providing therefore an update on the progress made in several aspects in the field. Thus, it will assist scientists and clinicians alike in furthering basic and translational research. Organized in sections focusing on: basic science, mitochondrial dysfunction in cardiac disorders, in vascular disorders, in metabolic disorders, in kidney disease, therapeutic challenges and options, this essential volume fills imperative gaps in understanding and potentially treating several cardiovascular disorders.

Chemical Diagnostics

Chemical Diagnostics
Author: Nelson L.S. Tang,Terence Poon
Publsiher: Springer
Total Pages: 200
Release: 2013-12-06
ISBN 10: 3642399428
ISBN 13: 9783642399428
Language: EN, FR, DE, ES & NL

Chemical Diagnostics Book Review:

Next Generation Sequencing: Chemistry, Technology and Applications, by P. Hui Application of Next Generation Sequencing to Molecular Diagnosis of Inherited Diseases, by W. Zhang, H. Cui, L.-J.C. Wong Clinical Applications of the Latest Molecular Diagnostics in Noninvasive Prenatal Diagnosis, by K.C.A. Chan The Role of Protein Structural Analysis in the Next Generation Sequencing Era, by W.W. Yue, D.S. Froese, P.E. Brennan Emerging Applications of Single-Cell Diagnostics, by M. Shirai, T. Taniguchi, H. Kambara Mass Spectrometry in High-Throughput Clinical Biomarker Assays: Multiple Reaction Monitoring, by C.E. Parker, D. Domanski, A.J. Percy, A.G. Chambers, A.G. Camenzind, D.S. Smith, C.H. Borchers Advances in MALDI Mass Spectrometry in Clinical Diagnostic Applications, by E.W.Y. Ng, M.Y.M. Wong, T.C.W. Poon Application of Mass Spectrometry in Newborn Screening: About Both Small Molecular Diseases and Lysosomal Storage Diseases, by W.-L. Hwu, Y.-H. Chien, N.-C. Lee, S.-F. Wang, S.-C. Chiang, L.-W. Hsu

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

Personalised Medicine

Personalised Medicine
Author: Sherif El-Khamisy
Publsiher: Springer
Total Pages: 260
Release: 2017-08-24
ISBN 10: 3319607332
ISBN 13: 9783319607337
Language: EN, FR, DE, ES & NL

Personalised Medicine Book Review:

The mammalian genome is constantly challenged by exogenous and endogenous threats. Although much is known about the mechanisms that maintain genome integrity, little is known about the applications of this knowledge to combat human disease. The past 20 years has witnessed extensive research and progress in this area and scientists started to design new therapies harnessing individual genetic differences among patients to combat degenerative disorders and cancer. We summarize these advancements and discuss perspectives for the future of personalized medicine.