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Advances in the Study of Genetic Disorders

Advances in the Study of Genetic Disorders
Author: Kenji Ikehara
Publisher: BoD – Books on Demand
Total Pages: 488
Release: 2011-11-21
Genre: Medical
ISBN: 9533073055

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The studies on genetic disorders have been rapidly advancing in recent years as to be able to understand the reasons why genetic disorders are caused. The first Section of this volume provides readers with background and several methodologies for understanding genetic disorders. Genetic defects, diagnoses and treatments of the respective unifactorial and multifactorial genetic disorders are reviewed in the second and third Sections. Certainly, it is quite difficult or almost impossible to cure a genetic disorder fundamentally at the present time. However, our knowledge of genetic functions has rapidly accumulated since the double-stranded structure of DNA was discovered by Watson and Crick in 1956. Therefore, nowadays it is possible to understand the reasons why genetic disorders are caused. It is probable that the knowledge of genetic disorders described in this book will lead to the discovery of an epoch of new medical treatment and relieve human beings from the genetic disorders of the future.


Rare Genetic Disorders

Rare Genetic Disorders
Author: Muhammad Umair
Publisher: Springer Nature
Total Pages: 283
Release:
Genre:
ISBN: 9819993237

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Molecular Genetics in Medicine

Molecular Genetics in Medicine
Author: D.F. Roberts
Publisher: Springer
Total Pages: 258
Release: 1991-06-18
Genre: Medical
ISBN: 134910874X

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A report of the proceedings of the Galton Institute's symposium which explored ethical, legal, political and psychological problems arising within advances in molecular genetics. It concentrates on the applications of molecular genetic techniques in clinical genetics.


Advances in Human Genetics

Advances in Human Genetics
Author: Harry Harris
Publisher: Springer Science & Business Media
Total Pages: 482
Release: 2012-12-06
Genre: Medical
ISBN: 1461583152

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Case Studies in Genes and Disease

Case Studies in Genes and Disease
Author: Bryan P. Bergeron
Publisher: ACP Press
Total Pages: 276
Release: 2004
Genre: DNA viruses
ISBN: 9781930513501

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Progress in the field of genetics is moving faster and demonstrating accomplishments unlike ever before. Genes marking for specific diseases and methods in gene therapy are evolving rapidly and being incorporated into daily patient care. Ethical issues are under constant debate by politicians, journalists, and laymen. All health care providers need to stay informed on the research, the applicability to patient management, and the moral issues involved. Case Studies in Genes and Disease tackles all these issues for those who need it most: busy clinicians who daily see patients needing to know how advances in genetic research and therapy affect their health. Written for practitioners who are not geneticists, it does not presume an expert's familiarity with the subject. From fundamentals to specific diseases to "the dark side" of genetics, Case Studies in Genes and Disease will educate, intrigue, and astound you.


Human Genetics and Genomics, Includes Wiley E-Text

Human Genetics and Genomics, Includes Wiley E-Text
Author: Bruce R. Korf
Publisher: John Wiley & Sons
Total Pages: 280
Release: 2013-02-11
Genre: Medical
ISBN: 0470654473

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This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice 'Hot topics' boxes that focus on the latest developments in testing, assessment and treatment 'Ethical issues' boxes to prompt further thought and discussion on the implications of genetic developments 'Sources of information' boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.


Rare Genetic Disorders

Rare Genetic Disorders
Author: Muhammad Umair
Publisher: Springer
Total Pages: 0
Release: 2024-04-13
Genre: Science
ISBN: 9789819993222

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This book introduces different Rare Genetic Disorders (RGDs), and challenges in their diagnosis. The chapters of the book discuss the emerging research and clinical approaches for the diagnosis of rare genetic disorders. It further reviews the future of genetic therapies for the treatment of rare genetic diseases and examine the recent advancements in the field of genetic testing for the diagnosis of these diseases. The book also covers the role of variants in the genome (genetic modifiers) that alleviate (suppress) or exacerbate (enhance) the severity of the disease, resulting in the variability of phenotypic outcomes. Further, the book examines different animal models for critical understanding of disease mechanisms, and the opportunity to evaluate the effect of therapeutic compounds in pre-clinical studies. The subsequent chapters present the state-of-the-art drug discovery strategies and biological approaches for the treatment of rare genetic disorders. Towards the end, the book reviews the current challenges in the diagnosis and treatment of the patients of rare genetic disorders and future opportunities. This book is useful for clinical geneticists, molecular and biochemical geneticists, researchers working in gene therapy and genome editing.


Genetic Disorders, Syndromology and Prenatal Diagnosis

Genetic Disorders, Syndromology and Prenatal Diagnosis
Author: T.V.N. Persaud
Publisher: Springer Science & Business Media
Total Pages: 257
Release: 2012-12-06
Genre: Science
ISBN: 9401166692

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Birth defects have assumed an importance even greater now than in the past because infant mortality rates attributed to congenital anomalies have declined far less than those for other causes of death, such as infectious and nutritional diseases. As many as 50 % of all pregnancies terminate as miscarriages, and in the majority of cases this is the result of faulty intrauterine development. Major congenital malformations are present in at least 2 % of all liveborn infants, and 22 % of all stillbirths and infant deaths are associated with severe congenital anomalies. Not surprisingly, there has been a great proliferation of research into the problems of developmental abnormalities over the past few decades. This series, Advances in the Study of Birth Defects, was conceived in order to provide a comprehensive focal source of up-to-date information for physi cians concerned with the health of the unborn child and for research workers in the fields of fetal medicine and birth defects. The first four volumes featured recent experimental work on selected areas of high priority and intensive investigation, including mechanisms of teratogenesis, teratological evaluation, molecular and cellular aspects of abnormal development, and neural and behavioural teratology. It seems logical and timely that the clinical aspects should now be presented. Accordingly, leading experts were invited to review a broad range of common problems from the standpoint of embryology, aetiology, clinical manifestations, diagnosis and management. This volume deals with genetic disorders and prenatal diagnosis.


Genetic Approaches to Noncommunicable Diseases

Genetic Approaches to Noncommunicable Diseases
Author: Kare Berg
Publisher: Springer Science & Business Media
Total Pages: 232
Release: 2012-12-06
Genre: Medical
ISBN: 3642610285

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In recent years, the progress made in the prevention of mortality and morbidity caused by communicable diseases and malnutrition has changed the disease spectrum in both developed and, particularly developing countries. As a result, noncommunicable diseases, includ ing genetic disorders, have achieved considerable importance in public health. Furthermore, it is now evident that inherited predisposition is important in a number of common diseases that occur in later life, such as atherosclerosis, coronary heart disease, hypertension, diabetes mellitus, and in some rheumatic, oncological, and mental illnesses that appear at an early stage and develop into severe handicaps in predisposed people. Rapid advances in gene mapping concerned with international human genome research make it almost certain that the use of new genetic knowledge will dramatically increase the requirement for genetic approaches in the control of a wide spectrum of diseases, and will provide possibilities for their prevention and treatment in the form of changes in lifestyle, diet modification, periodic check-ups, or the administration of gene therapy. It appears that one of the main problems in delivering genetics services is the difficulty involved in informing the health profession and the community of the real sig nificance of genetic problems. There is, therefore, a need for international collaboration in improving genetic health education at all levels and in improving health through genetic approaches.