Download or read book Diagnostics and Gene Therapy for Human Genetic Disorders written by K.V. Chaitanya and published by CRC Press. This book was released on 2022-12-30 with total page 461 pages. Available in PDF, EPUB and Kindle. Book excerpt: Diagnostics and Gene Therapy for Human Genetic Disorders provides an integrative and comprehensive source of information blending classical human genetics with the human genome. It provides a multidisciplinary overview of Mendelian inheritance and multifactorial inheritance, genetic variations, polymorphisms, chromosomal, multifactorial, and mitochondrial disorders. PCR, electrophoresis, cytogenetics, prenatal, and HPLC based techniques applied for diagnosing genetic disorders are discussed with applications. Symptoms, etiology, diagnosis, treatment of 14 major and 5 minor genetic disorders are discussed in detail. Methods employed for the preparation of kits for the diagnosis of diseases are provided. The role of gene therapy in the amelioration of genetic disorders and the methodology employed are discussed. The success of gene therapy in controlling various disorders such as immune system disorders, neurodegenerative disorders, cardiovascular disorders, eye diseases, and cancer has been described along with type studies. Features: A blend of classical human genetics with molecular and genome-based applications Techniques applied for the diagnosis of genetic disorders Diagnostics of 19 genetic disorders including symptoms, etiology, diagnosis, and treatment Role of gene therapy in the amelioration of disorders Type studies describing the role of diagnostics in conserving the human health This book attempts to connect all the information about classical and modern human genetics, genetic disorders, and gene therapy to all types of diseases in one place. This work provides a comprehensive source of information that can serve as a reference book for scientific investigations and as a textbook for the graduate students.
Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.
Download or read book Genetic Disorders and the Fetus written by Aubrey Milunsky and published by John Wiley & Sons. This book was released on 2011-09-07 with total page 1494 pages. Available in PDF, EPUB and Kindle. Book excerpt: Highly Commended in the Obstetrics and Gynaecology category of the 2010 BMA Medical Book Competition Brand new edition of the world's leading text on prenatal diagnosis This 6th Edition of Genetic Disorders and the Fetus maintains it's pre-eminence as the major repository of facts about prenatal diagnosis. It provides a critical analysis and synthesis of established and new knowledge based on the long experience of authorities in their respective fields. A broad international perspective is presented through authoritative contributions from authors in 11 countries. All chapters and guidelines have been updated to reflect contemporary practice. New chapters have been introduced on: The use of chromosomal microarrays in prenatal diagnosis The social, legal and public policy issues with special reference to international approaches The important peroxisomal and related fatty acid oxidation disorders Extensive tables and clear illustrations assist in differential diagnosis, gene identification and diagnostic modes. The recognition of many new and unresolved challenges should provide inspiration for novel research initiatives. The guidance provided and the insights and perspectives of these authors make this volume a valuable and indispensable resource for all whose focus is securing fetal health through prenatal diagnosis. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment is an essential resource for all engaged in prenatal genetic diagnosis, especially obstetricians, maternal-fetal medicine specialists, medical geneticists, genetic counsellors, and pediatricians, but also many other specialties.
Download or read book Genetics of Common Diseases written by Ian Day and published by Garland Science. This book was released on 2020-12-18 with total page 300 pages. Available in PDF, EPUB and Kindle. Book excerpt: Many common diseases are partly attributable to the genes which an individual inherits. Early steps have now been made in developing ways to determine which genetic variations are important, with some recent successes. This is a collection of papers from the Fifth Annual Molecular Pathology Symposium on the 10 December 1996. They represent the contributions to that meeting made by a set of distinguished scientists and clinicians whose work pertains to the furtherment of our understanding of the genetic components of common diseases and potential future approaches.
Download or read book Rare Genetic Disorders written by Muhammad Umair and published by Springer Nature. This book was released on with total page 283 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Human Gene Therapy written by and published by . This book was released on 1984 with total page 120 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Genetic Testing and Gene Therapy written by James Wolfe and published by Encyclopaedia Britannica. This book was released on 2015-07-15 with total page 194 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book covers the foundations of genes and heredity to give readers a solid understanding of what modern genetics has been built on, before examining the ways in which genetic testing is used to assess genetic risk.
Download or read book Heritable Human Genome Editing written by The Royal Society and published by National Academies Press. This book was released on 2021-01-16 with total page 239 pages. Available in PDF, EPUB and Kindle. Book excerpt: Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.
Download or read book Gene Therapy for Cancer written by Kelly K. Hunt and published by Springer Science & Business Media. This book was released on 2007-10-26 with total page 469 pages. Available in PDF, EPUB and Kindle. Book excerpt: The three sections of this volume present currently available cancer gene therapy techniques. Part I describes the various aspects of gene delivery. In Part II, the contributors discuss strategies and targets for the treatment of cancer. Finally, in Part III, experts discuss the difficulties inherent in bringing gene therapy treatment for cancer to the clinic. This book will prove valuable as the volume of preclinical and clinical data continues to increase.
Download or read book Human Gene Therapy written by Eve K. Nichols and published by Harvard University Press. This book was released on 1988 with total page 268 pages. Available in PDF, EPUB and Kindle. Book excerpt: Nichols explores the potential for gene therapy and identifies those who are candidates for it. Having provided a biomedical background for understanding somatic cell gene therapy, she takes a thoughtful look at complex and sensitive issues surrounding ethical, economic, and policy aspects of manipulating human genes.
Download or read book Frontiers in Human Genetics written by Eric Yap and published by World Scientific. This book was released on 2001 with total page 422 pages. Available in PDF, EPUB and Kindle. Book excerpt: With the completion of human genome sequencing, human genetics is poised for major developments in functional genomics, molecular diagnostics, pathogenesis of complex multifactorial diseases and gene-based therapy. This book was conceived from an international symposium on human genetics and gene therapy that was held in Singapore in 1999. It includes manuscripts of the work presented as well as articles written by a selection of young researchers in the Asia Pacific region who are actively involved in a diverse range of medical problems, including cancer, infections, hypertension and myopia. New technologies being developed in gene therapy, lab-on-chips and bioinformatics are reported. The book provides a snapshot of the diverse approaches and solutions being developed at the frontiers of human genetics. It will be useful to researchers and students in molecular genetics and the life sciences, professionals in the biotechnology and pharmaceutical industries, clinicians who are interested in molecular medicine, etc.
Download or read book Genetic Disorders and the Fetus written by Aubrey Milunsky and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 910 pages. Available in PDF, EPUB and Kindle. Book excerpt: About 21 years ago prenatal diagnosis became part of the physician's diagnostic armamentarium against genetic defects. My first monograph in 1973 (The Prenatal Diagnosis of Hereditary Disorders) critically assessed early progress and enunciated basic principles in the systematic approach to prenatal genetic diagnosis. Six years later and under the current title, a subsequent volume provided the first major reference source on this subject. The present second (effectively third) edition, which was urged in view of the excellent reception of the two earlier volumes, reflects the remarkable growth of this new discipline and points to significant and exciting future developments. Notwithstanding these advances, the use of the new tools and techniques for the benefit of at-risk parents has taken many more years than most anticipated. Key factors have been the lack of teaching of human genetics in medical schools in the preceding decades and the difficulty of educating practicing physicians in a new scientific disci pline. Even today the teaching of genetics in medical schools leaves much to be desired and this will further delay the introduction of newer genetic advances to the bedside.
Download or read book Molecular Diagnosis and Gene Therapy written by H.E. Blum and published by Springer. This book was released on 1996-06-30 with total page 168 pages. Available in PDF, EPUB and Kindle. Book excerpt: Molecular diagnosis and gene therapy are of increasing interest and importance in clinical medicine. The increasing understanding of the pathogenesis of human diseases at the molecular level opens new perspectives for their diagnosis, prevention and therapy. The first part of this book, the proceedings of Falk Symposium No. 88 'Molecular Diagnosis and Gene Therapy', held in Basel, Switzerland, October 22-23, 1995, is aimed at an in-depth understanding of the methodology of molecular diagnosis by hybridization analysis, polymerase chain reaction and others. Further, the applications and limitations of these technologies in clinical medicine for the detection of genetic, malignant and infectious diseases are reviewed. In the second part of the book, the basic strategies of gene therapy are presented, including gene transfer and targeting. Further, experimental and clinical applications of gene therapy strategies for the prevention and treatment of hepatic and other diseases are presented. Molecular diagnosis and gene therapy are clearly going to be key elements of clinical medicine after the year 2000. In this sense, the book should allow basic scientists as well as clinicians to be informed about the state-of-the-art of molecular diagnosis and gene therapy and should provide a perspective for future developments in molecular medicine.
Download or read book Human Genetics and Genomics written by Bruce R. Korf and published by John Wiley & Sons. This book was released on 2012-11-19 with total page 280 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Signs and Symptoms of Genetic Conditions written by Louanne Hudgins and published by Oxford University Press, USA. This book was released on 2014 with total page 561 pages. Available in PDF, EPUB and Kindle. Book excerpt: Comprising 31 clinical protocols from the world's foremost clinical geneticists, this title provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms.
Download or read book Principles and Applications of Molecular Diagnostics written by Nader Rifai and published by Elsevier. This book was released on 2018-06-13 with total page 422 pages. Available in PDF, EPUB and Kindle. Book excerpt: Principles and Applications of Molecular Diagnostics serves as a comprehensive guide for clinical laboratory professionals applying molecular technology to clinical diagnosis. The first half of the book covers principles and analytical concepts in molecular diagnostics such as genomes and variants, nucleic acids isolation and amplification methods, and measurement techniques, circulating tumor cells, and plasma DNA; the second half presents clinical applications of molecular diagnostics in genetic disease, infectious disease, hematopoietic malignancies, solid tumors, prenatal diagnosis, pharmacogenetics, and identity testing. A thorough yet succinct guide to using molecular testing technology, Principles and Applications of Molecular Diagnostics is an essential resource for laboratory professionals, biologists, chemists, pharmaceutical and biotech researchers, and manufacturers of molecular diagnostics kits and instruments. Explains the principles and tools of molecular biology Describes standard and state-of-the-art molecular techniques for obtaining qualitative and quantitative results Provides a detailed description of current molecular applications used to solve diagnostics tasks
Download or read book Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Academic Press. This book was released on 2018-11-20 with total page 412 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 detailed coverage in 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. Clinical Principles and Applications thoroughly addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Additionally, new and updated chapters explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects. With regular advances in genomic technologies propelling precision medicine into the clinic, the seventh edition of Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers. Fully revised and up-to-date, this new edition introduces genetic researchers, students, and health professionals to general principles of genetic counseling, genetic and genomic diagnostics, treatment pathways, drug discovery, and the application of genomic technologies, analytics, and therapeutics in clinical practice Examines key topics and developing areas within clinical genomics, including genetic evaluation of patients, clinical trials and drug discovery, genetic health records, cytogenetic analysis, diagnostic molecular genetics, small molecule genetic therapeutics, gene product replacement, clinical teratology, transplantation genetics, and ethical and legal aspects of genomic medicine Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics
