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Unravelling Complexities in Genetics and Genomics

Unravelling Complexities in Genetics and Genomics PDF Author: Moyra Smith
Publisher: World Scientific
ISBN: 9814759481
Category : Medical
Languages : en
Pages : 432

Book Description
Unravelling Complexities in Genetics and Genomics: Impact on Diagnosis Counseling and Management reviews recent advances in defining genetic and genomic factors that play important roles in diseases in humans. It includes discussions on new technologies in DNA and RNA sequencing, genome analysis, and bioinformatics applied to the study of patients with specific disorders and to normal populations, and illustrates how modern molecular techniques can improve diagnoses and enable the design of specific targeted therapies and methods of prevention. Additional emphasis is placed on the genetic variants and genomic risk factors related to the development of complex common disorders, including neurobehavioral and neurocognitive disorders in children and adults and late onset disorders in adults, including atherosclerosis, type 2 diabetes, cancer, and neurodegenerative disorders. Physicians, nurses, genetic counselors, graduate students in genetics and genomics will find this book a valuable read. Contents:Expanding Insights into Genes and ExpressionGenomic Integrity and Relevance to DiseaseEpigenetics and EpigenomicsProteins, Proteomics, Protein Folding and ProteostasisGenotype–Phenotype Correlations and ComplexitiesImmune SystemLipids, Atherosclerosis, Metabolic Syndromes and DiabetesEarly-Onset Neurocognitive and Neurobehavioral DisordersIntegrating Advances in Neurobiology and Genetics into PsychiatryNeurodegenerative DiseasesCancerEpilogue Readership: Physicians, nurses, genetic counselors, graduate students in genetics and genomics.

Unravelling Complexities in Genetics and Genomics

Unravelling Complexities in Genetics and Genomics PDF Author: Moyra Smith
Publisher: World Scientific
ISBN: 9814759481
Category : Medical
Languages : en
Pages : 432

Book Description
Unravelling Complexities in Genetics and Genomics: Impact on Diagnosis Counseling and Management reviews recent advances in defining genetic and genomic factors that play important roles in diseases in humans. It includes discussions on new technologies in DNA and RNA sequencing, genome analysis, and bioinformatics applied to the study of patients with specific disorders and to normal populations, and illustrates how modern molecular techniques can improve diagnoses and enable the design of specific targeted therapies and methods of prevention. Additional emphasis is placed on the genetic variants and genomic risk factors related to the development of complex common disorders, including neurobehavioral and neurocognitive disorders in children and adults and late onset disorders in adults, including atherosclerosis, type 2 diabetes, cancer, and neurodegenerative disorders. Physicians, nurses, genetic counselors, graduate students in genetics and genomics will find this book a valuable read. Contents:Expanding Insights into Genes and ExpressionGenomic Integrity and Relevance to DiseaseEpigenetics and EpigenomicsProteins, Proteomics, Protein Folding and ProteostasisGenotype–Phenotype Correlations and ComplexitiesImmune SystemLipids, Atherosclerosis, Metabolic Syndromes and DiabetesEarly-Onset Neurocognitive and Neurobehavioral DisordersIntegrating Advances in Neurobiology and Genetics into PsychiatryNeurodegenerative DiseasesCancerEpilogue Readership: Physicians, nurses, genetic counselors, graduate students in genetics and genomics.

Genomics of Rare Diseases

Genomics of Rare Diseases PDF Author: Claudia Gonzaga-Jauregui
Publisher: Academic Press
ISBN: 0128204362
Category : Medical
Languages : en
Pages : 316

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

Progress, Pioneers And Process: Studies In Physiology And Genetic Medicine

Progress, Pioneers And Process: Studies In Physiology And Genetic Medicine PDF Author: Moyra Smith
Publisher: World Scientific
ISBN: 9813270594
Category : Science
Languages : en
Pages : 465

Book Description
This book describes the growth of information on specific aspects of physiology and pathology of particular disorders and provides an analysis of the processes and contributions of pioneers to discovery. It begins primarily in the second half of the 19th century and explores specific contributions of researchers through to the 20th and 21st centuries. The book revisits specific aspects of physiology, biochemistry and molecular biology relevant to genetic medicine. In addition, it provides a review of specific human disorders that the author has encountered during her career, as well as an analysis of the progress in determining disease mechanisms and improving therapies.The chapters in this book provide insights into the processes of research and discovery, as well as how elucidation of disease mechanisms translates into research in diagnostics and treatments.The book provides historical information and current information obtained from recent journals and presentations, on each of the topics discussed.

Precision Medicine for Investigators, Practitioners and Providers

Precision Medicine for Investigators, Practitioners and Providers PDF Author: Joel Faintuch
Publisher: Academic Press
ISBN: 0128191791
Category : Science
Languages : en
Pages : 640

Book Description
Precision Medicine for Investigators, Practitioners and Providers addresses the needs of investigators by covering the topic as an umbrella concept, from new drug trials to wearable diagnostic devices, and from pediatrics to psychiatry in a manner that is up-to-date and authoritative. Sections include broad coverage of concerning disease groups and ancillary information about techniques, resources and consequences. Moreover, each chapter follows a structured blueprint, so that multiple, essential items are not overlooked. Instead of simply concentrating on a limited number of extensive and pedantic coverages, scholarly diagrams are also included. Provides a three-pronged approach to precision medicine that is focused on investigators, practitioners and healthcare providers Covers disease groups and ancillary information about techniques, resources and consequences Follows a structured blueprint, ensuring essential chapters items are not overlooked

The Genetics of Neurodevelopmental Disorders

The Genetics of Neurodevelopmental Disorders PDF Author: Kevin J. Mitchell
Publisher: John Wiley & Sons
ISBN: 1118524993
Category : Medical
Languages : en
Pages : 368

Book Description
Neurodevelopmental disorders arise from disturbances to various processes of brain development, which can manifest in diverse ways. They encompass many rare genetic syndromes as well as common, heritable conditions such as intellectual disability, autism, ADHD, schizophrenia and many types of epilepsy. The Genetics of Neurodevelopmental Disorders examines recent revolutionary advances in our understanding of the genetics of these disorders, exploring both basic discoveries and the translation of new findings into the clinical setting. The book begins by examining the genetic architecture and etiology of neurodevelopmental disorders. It describes the striking recent progress in identifying pathogenic mutations, which are grouped here based on the neurodevelopmental processes impacted. Subsequent chapters consider the use of cellular and animal models to elucidate the cascading consequences of such mutations, from molecular and cellular levels to emergent effects on neural circuits, brain systems and subsequent psychological development. The text concludes by examining the important clinical implications of the recent advances in the field, from recognition of the genetic causes in individual patients to development of new treatments and interventions. A timely synthesis, The Genetics of Neurodevelopmental Disorders is a unique and essential resource for neuroscientists, geneticists, neurologists and psychiatrists and an accessible and up-to-date overview for medical and science students.

Chromosome Mapping Research Developments

Chromosome Mapping Research Developments PDF Author: Jennifer F. Verrity
Publisher: Nova Publishers
ISBN: 9781604563016
Category : Medical
Languages : en
Pages : 246

Book Description
Chromosome mapping is the construction of a series of chromosome descriptions that depict the position and spacing of unique, identifiable biochemical landmarks, including some genes that occur on the DNA of chromosomes. This new book is devoted to the latest research in the field.

Animal Models in Research

Animal Models in Research PDF Author: Harikrishnan Vijayakumar Sreelatha
Publisher: Springer Nature
ISBN: 9819700485
Category :
Languages : en
Pages : 645

Book Description


Index Medicus

Index Medicus PDF Author:
Publisher:
ISBN:
Category : Medicine
Languages : en
Pages : 1940

Book Description
Vols. for 1963- include as pt. 2 of the Jan. issue: Medical subject headings.

Genomic Medicine

Genomic Medicine PDF Author: Dhavendra Kumar
Publisher: Oxford Monographs on Medical G
ISBN: 019989602X
Category : Medical
Languages : en
Pages : 853

Book Description
Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

Plant Biology and Biotechnology

Plant Biology and Biotechnology PDF Author: Bir Bahadur
Publisher: Springer
ISBN: 8132222865
Category : Science
Languages : en
Pages : 827

Book Description
This volume offers a much-needed compilation of essential reviews on diverse aspects of plant biology, written by eminent botanists. These reviews effectively cover a wide range of aspects of plant biology that have contemporary relevance. At the same time they integrate classical morphology with molecular biology, physiology with pattern formation, growth with genomics, development with morphogenesis, and classical crop-improvement techniques with modern breeding methodologies. Classical botany has been transformed into cutting-edge plant biology, thus providing the theoretical basis for plant biotechnology. It goes without saying that biotechnology has emerged as a powerful discipline of Biology in the last three decades. Biotechnological tools, techniques and information, used in combination with appropriate planning and execution, have already contributed significantly to economic growth and development. It is estimated that in the next decade or two, products and processes made possible by biotechnology will account for over 60% of worldwide commerce and output. There is, therefore, a need to arrive at a general understanding and common approach to issues related to the nature, possession, conservation and use of biodiversity, as it provides the raw material for biotechnology. More than 90% of the total requirements for the biotechnology industry are contributed by plants and microbes, in terms of goods and services. There are however substantial plant and microbial resources that are waiting for biotechnological exploitation in the near future through effective bioprospection. In order to exploit plants and microbes for their useful products and processes, we need to first understand their basic structure, organization, growth and development, cellular process and overall biology. We also need to identify and develop strategies to improve the productivity of plants. In view of the above, in this two-volume book on plant biology and biotechnology, the first volume is devoted to various aspects of plant biology and crop improvement. It includes 33 chapters contributed by 50 researchers, each of which is an expert in his/her own field of research. The book begins with an introductory chapter that gives a lucid account on the past, present and future of plant biology, thereby providing a perfect historical foundation for the chapters that follow. Four chapters are devoted to details on the structural and developmental aspects of the structures of plants and their principal organs. These chapters provide the molecular biological basis for the regulation of morphogenesis of the form of plants and their organs, involving control at the cellular and tissue levels. Details on biodiversity, the basic raw material for biotechnology, are discussed in a separate chapter, in which emphasis is placed on the genetic, species and ecosystem diversities and their conservation. Since fungi and other microbes form an important component of the overall biodiversity, special attention is paid to the treatment of fungi and other microbes in this volume. Four chapters respectively deal with an overview of fungi, arbuscularmycorrhizae and their relation to the sustenance of plant wealth, diversity and practical applications of mushrooms, and lichens (associated with a photobiont). Microbial endosymbionts associated with plants and phosphate solubilizing microbes in the rhizosphere of plants are exhaustively treated in two separate chapters. The reproductive strategies of bryophytes and an overview on Cycads form the subject matter of another two chapters, thus fulfilling the need to deal with the non-flowering Embryophyte group of plants. Angiosperms, the most important group of plants from a biotechnological perspective, are examined exhaustively in this volume. The chapters on angiosperms provide an overview and cover the genetic basis of flowers development, pre-and post-fertilization reproductive growth and development, seed biology and technology, plant secondary metabolism, photosynthesis, and plant volatile chemicals. A special effort has been made to include important topics on crop improvement in this volume. The importance of pollination services, apomixes, male sterility, induced mutations, polyploidy and climate changes is discussed, each in a separate chapter. Microalgalnutra-pharmaceuticals, vegetable-oil-based nutraceuticals and the importance of alien crop resources and underutilized crops for food and nutritional security form the topics of three other chapters in this volume. There is also a special chapter on the applications of remote sensing in the plant sciences, which also provides information on biodiversity distribution. The editors of this volume believe the wide range of basic topics on plant biology that have great relevance in biotechnology covered will be of great interest to students, researchers and teachers of botany and plant biotechnology alike.