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Diagnostics And Gene Therapy For Human Genetic Disorders


Diagnostics And Gene Therapy For Human Genetic Disorders
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Diagnostics And Gene Therapy For Human Genetic Disorders


Diagnostics And Gene Therapy For Human Genetic Disorders
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Author : K.V. Chaitanya
language : en
Publisher: CRC Press
Release Date : 2022-12-30

Diagnostics And Gene Therapy For Human Genetic Disorders written by K.V. Chaitanya and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-12-30 with Science categories.


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.



Omics Technologies For Clinical Diagnosis And Gene Therapy Medical Applications In Human Genetics


Omics Technologies For Clinical Diagnosis And Gene Therapy Medical Applications In Human Genetics
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Author : Syeda Marriam Bakhtiar
language : en
Publisher: Bentham Science Publishers
Release Date : 2022-10-03

Omics Technologies For Clinical Diagnosis And Gene Therapy Medical Applications In Human Genetics written by Syeda Marriam Bakhtiar and has been published by Bentham Science Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-10-03 with Medical categories.


Genetic disorders have been the focus of scientists for a long time. The emergence of next-generation sequencing techniques has ushered a new era in genetics and several developments have occurred in human genetics. The scientific perspective has also been widened with omics technologies that allow researchers to analyze genetic sequences and their expression products. An integrated approach is being used not only for diagnosis but also for disease management and therapeutic purposes. This book highlights emerging areas of omics technology and its application in the diagnosis and management of human genetic disorders. The book covers three areas of research and implementation: 1) Diagnosis (covering conventional strategies to next-generation platforms). This section focuses on the role of in silico analysis, databases and multi-omics of single-cell which will help in designing better management strategies. 2) Disease Management and therapeutic interventions. This section starts with genetic counselling and progresses to more specific techniques such as pharmacogenomics and personalized medicine, gene editing techniques and their applications in gene therapies and regenerative medicine. 3) Case studies. This section discusses the applications and success of all the above-mentioned strategies on selected human disorders. This book serves as a handy reference for students and academics studying advanced omics techniques in biochemistry and molecular genetics as part of courses in life sciences, pharmacology and medicine.



Genetics Of Common Diseases


Genetics Of Common Diseases
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Author : Ian Day
language : en
Publisher: Garland Science
Release Date : 2020-12-18

Genetics Of Common Diseases written by Ian Day and has been published by Garland Science this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-12-18 with Science categories.


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.



Omics Technologies For Clinical Diagnosis And Gene Therapy


Omics Technologies For Clinical Diagnosis And Gene Therapy
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Author : Syeda Marriam Bakhtiar
language : en
Publisher: Bentham Science Publishers
Release Date : 2022-10-03

Omics Technologies For Clinical Diagnosis And Gene Therapy written by Syeda Marriam Bakhtiar and has been published by Bentham Science Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-10-03 with Medical categories.


Genetic disorders have been the focus of scientists for a long time. The emergence of next-generation sequencing techniques has ushered a new era in genetics and several developments have occurred in human genetics. The scientific perspective has also been widened with omics technologies that allow researchers to analyze genetic sequences and their expression products. An integrated approach is being used not only for diagnosis but also for disease management and therapeutic purposes. This book highlights emerging areas of omics technology and its application in the diagnosis and management of human genetic disorders. The book covers three areas of research and implementation: 1) Diagnosis (covering conventional strategies to next-generation platforms). This section focuses on the role of in silico analysis, databases and multi-omics of single-cell which will help in designing better management strategies. 2) Disease Management and therapeutic interventions. This section starts with genetic counselling and progresses to more specific techniques such as pharmacogenomics and personalized medicine, gene editing techniques and their applications in gene therapies and regenerative medicine. 3) Case studies. This section discusses the applications and success of all the above-mentioned strategies on selected human disorders. This book serves as a handy reference for students and academics studying advanced omics techniques in biochemistry and molecular genetics as part of courses in life sciences, pharmacology and medicine.



Frontiers In Human Genetics Diseases And Technologies


Frontiers In Human Genetics Diseases And Technologies
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Author : Coral Poh San Lai
language : en
Publisher: World Scientific
Release Date : 2001-05-24

Frontiers In Human Genetics Diseases And Technologies written by Coral Poh San Lai and has been published by World Scientific this book supported file pdf, txt, epub, kindle and other format this book has been release on 2001-05-24 with Science categories.


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 includes manuscripts from an international symposium on human genetics and gene therapy 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 cancers, 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, as well as clinicians who are interested in molecular medicine and gene therapy.



Genetic Disorders And The Fetus


Genetic Disorders And The Fetus
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Author : Aubrey Milunsky
language : en
Publisher: John Wiley & Sons
Release Date : 2021-04-19

Genetic Disorders And The Fetus written by Aubrey Milunsky and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-04-19 with Science categories.


Explore the latest edition of the definitive resource on prenatal genetic diagnosis In the newly revised eighth edition of Genetic Disorders and the Fetus, authors and acclaimed medical doctors, Aubrey and Jeff Milunsky, deliver a thorough and comprehensive reference perfect for academicians, students in post-graduate specialization courses, and working medical professionals. This book incorporates the knowledge, wisdom, perspectives, and recommendations from a renowned team of contributing authors, drawing upon their extensive experience in prenatal genetic diagnosis to present the definitive reference work used routinely around the world. In addition to fundamental information on established prenatal diagnosis and exhaustively referenced coverage of new techniques, you’ll find new chapters on preconception genetic counselling, preimplantation genetic diagnosis, advances in fetal imaging, and gene therapy. Genetic Disorders and the Fetus is authored by a global team of internationally recognized contributors, all of whom are leading voices in the field The eighth edition also contains: A thorough discussion of the public policy and ethics of embryo editing, including mitochondrial replacement treatment, and gene patents, prenatal diagnosis, and polygenic disease risk prediction An exploration of preimplantation genetic diagnosis, pharmacogenetics and prenatal diagnosis, and whole genome sequencing A treatment of genetic disorders and pharmacologic therapy, including spinal muscular atrophy and fragile X syndrome A discussion of legal issues, including the fetus as plaintiff and the increasing liability of physicians due to advances in genetics Perfect for obstetricians, clinical geneticists, molecular and biochemical geneticists, and pediatricians, Genetic Disorders and the Fetus will also earn a place in the libraries of neonatologists, genetics counsellors, ethicists, radiologists, and professionals working in public policy and health departments.



Diagnostic Genetic Testing


Diagnostic Genetic Testing
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Author : David Bourn
language : en
Publisher: Springer Nature
Release Date : 2021-11-13

Diagnostic Genetic Testing written by David Bourn and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-11-13 with Medical categories.


Over the last decade, technical advances have allowed genomic testing which provides a great opportunity for diagnosis but also an increased chance of uncertain or unexpected findings. This book addresses many of the questions that arise in this context and summarizes the essential concepts in diagnostic genetic testing in an easy-to-read manner. It also covers some broad context for the practical and ethical implications of examining human DNA sequences. The book starts with a general introduction to the field, providing enough background to allow readers without any previous education in genetics to comprehend the material in the subsequent chapters. The main part explores differing aspects of human genetics and the wider implications of testing in these areas. The author covers not only single gene inheritance, but also genetic testing of cancers and how testing benefits the patients. Special emphasis is also given to the questions of genetics and identity. The concluding part then draws the main themes together and summarises the wider significance of genetics. It also explores the gap between promises made for the impact of advances in genetics, and the actual benefits to patients. The book is written for everyone interested to learn about the process of genetic testing and the broader implications. Moreover, it is aimed at health professionals with an interest in genetics, at students or scientific trainees looking for an introduction to diagnostic genetics, and at professionals in health policy or health journalism.



Gene Therapy


Gene Therapy
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Author : Theodore Friedmann
language : en
Publisher: CSHL Press
Release Date : 1994

Gene Therapy written by Theodore Friedmann and has been published by CSHL Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 1994 with Gene therapy categories.


In 1982, a meeting of unusual influence was held at the Banbury Conference Center of Cold Spring Harbor Laboratory. After an early attempt at treating clinical disease with transferred genes had ignited public attention and scientific controversy, a group of distinguished biologists and physicians came together to assess practical progress towards gene therapy and what its future might be. The geneticist Ted Friedmann wrote a narrative account of the participants' contributions to the meeting, ending with a personal discussion of ethical issues raised by genetic technologies.His book, the first on gene therapy, was widely read but has long been unavailable. It has been reprinted with a new introduction entitled "Gene Therapy 1994", in which the author reviews the field's technical accomplishments and ethical dilemmas. Now that gene therapy has become part of the medical landscape, this volume is of interest as both a historical document and an assessment of the field's current challenges.



Human Gene Therapy


Human Gene Therapy
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Author :
language : en
Publisher:
Release Date : 1984

Human Gene Therapy written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1984 with Electronic government information categories.




Genetic Disorders And The Fetus


Genetic Disorders And The Fetus
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Author : Aubrey Milunsky
language : en
Publisher: John Wiley & Sons
Release Date : 2015-09-16

Genetic Disorders And The Fetus written by Aubrey Milunsky and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-09-16 with Medical categories.


Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, Seventh Edition is the eagerly awaited new edition of the discipline-leading text that has been at the forefront of diagnosis, prevention, and treatment of fetal genetic disorders for over 36 years. The seventh edition continues the long-established tradition of excellence that has become synonymous with this text. The book builds on the foundations of preconception and prenatal genetic counseling and the original pillars of prenatal diagnosis while also providing authoritative coverage of exciting developments in non-invasive genetic testing and rapidly developing molecular techniques, including microarray analysis and next generation sequencing, that are revolutionizing the field. Chapters are once again authored by internationally recognized authorities in the field of prenatal diagnosis. The editors have added three entirely new chapters to this edition to complement the complete revision of existing content. The three new chapters focus on non-invasive prenatal screening, placental genetics, and the psychology of prenatal and perinatal grief. The broad-ranging coverage and international scope will ensure that the new edition maintains its role as the major repository for information on all aspects of prenatal diagnosis. The editors have brought together an invaluable collection of evidence-based facts bolstered by knowledge and decades of experience in the field. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 7th Edition is a timely update to this world-leading text.