A Short History Of Medical Genetics
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A Short History Of Medical Genetics
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Author : Peter S. Harper
language : en
Publisher: Oxford University Press
Release Date : 2008
A Short History Of Medical Genetics written by Peter S. Harper and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008 with Language Arts & Disciplines categories.
"This book traces the development of genetics in medicine from the first descriptions of inherited diseases more than 300 years ago to the new applications resulting from mapping and sequencing the human genome. It follows both the scientific and the medical advances, focusing especially on those of the past 50 years, which have seen the field of medical genetics emerge as one of the foremost and most rapidly changing medical specialties, now influencing the whole of medicine. It also examines the ethical challenges faced by those working in the field, and describes some of the past disasters that have resulted from these being ignored, notably the abuses of eugenics and the catastrophic destruction of genetics in Soviet Russia. This is the first book of its kind; it is clearly and simply written, and will be valuable to all those who have an interest or concern in the development of medical genetics, as well as those actually working in the field. Historians and social scientists will likewise find this book an important foundation for future detailed studies, which are urgently needed."--BOOK JACKET.
Victor Mckusick And The History Of Medical Genetics
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Author : Krishna R. Dronamraju
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-06-08
Victor Mckusick And The History Of Medical Genetics written by Krishna R. Dronamraju and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-06-08 with Medical categories.
This book is being planned as a tribute to Dr. Victor A. McKusick (1921-2008), who is well known as the “father of medical genetics”. He was long associated with the Johns Hopkins University School of Medicine, first as a student in the 1940s, and later as a faculty member, becoming the Chairman of the Department of Medicine at Johns Hopkins. He was a co-founder of GENOMICS and founder and lifelong editor of Mendelian Inheritance in Man, a massive compendium of human syndromes and genetic variants. Dr. McKusick made distinguished contributions to all branches of medical genetics. He was a member of the U.S. National Academy of Sciences and many other academies in the world. He was awarded the National Medal of Science in 2002. He received many other honors including several honorary doctorates. The proposed book will reflect all the fields touched upon by Dr. McKusick’s contributions. It will be a valuable source of the latest progress in medical genetics. The contributors are internationally distinguished in their chosen specialties. Besides professional distinction, they are being selected because of their past association with Dr. McKusick, as former students or colleagues who extended his research in some fashion. The proposed book will reflect all the fields touched upon by Dr. McKusick’s contributions. It will be a valuable source of the latest progress in medical genetics. The contributors are internationally distinguished in their chosen specialties. Besides professional distinction, they are being selected because of their past association with Dr. McKusick, as former students or colleagues who extended his research in some fashion.
Clinical Genetics
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Author : Golder Wilson
language : en
Publisher: Wiley-Liss
Release Date : 2000
Clinical Genetics written by Golder Wilson and has been published by Wiley-Liss this book supported file pdf, txt, epub, kindle and other format this book has been release on 2000 with Medical categories.
With the advent of genetic engineering and mapping of the human genome, public awareness concerning the contributions that genetic disorders make to illness or death has increased significantly. The fields of human and medical genetics have continued to expand and offer new ways of understanding, preventing, and managing patients with genetic disorders. At the core of the genetic approach are the ideas of anticipation and prevention, which are essential for modern medical practice. Clinical Genetics: A Short Course explains the importance of being able to anticipate disease based on individual characteristics or a family history, and then providing the necessary measures to forestall further complications. Each informative chapter commences with a case presentation and an explanation of medical terms. As the book progresses and new concepts are introduced, each case is updated. Clinical Genetics clarifies that, although individual genetic disease may be rare, it is an inescapable part of medicine. Text contains: * Both basic principles and differential diagnosis and management * Case-oriented problems, including answers and solutions * Over 300 illustrations to clarify clinical cases * Actual patient material * Glossary of genetic and medical terminology Clinical Genetics: A Short Course emphasizes clinical, rather than traditional human genetics, and is a vital resource for medical, clinical, and human geneticists, as well as other health care professionals.
The Practical Guide To The Genetic Family History
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Author : Robin L. Bennett
language : en
Publisher: John Wiley & Sons
Release Date : 2004-04-07
The Practical Guide To The Genetic Family History written by Robin L. Bennett 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 2004-04-07 with Medical categories.
The Practical Guide to The Genetic Family History Robin L. Bennett Compiling the most recent genetic developments in medical specialties, The Practical Guide to the Genetic Family History is a valuable resource which outlines the proper methods for taking and recording a patient's family medical history, allowing primary care physicians to be more efficient in diagnosing conditions with potential genetic components. With genetic screening forms, an overview of directed questions, pedigree nomenclature, and outlining common approaches used, genetic counselor Robin L. Bennett provides readers with the basic foundation in human genetics necessary to recognize inherited disorders and familial disease susceptibility in patients. As the only guide which is geared for the physician in this field, The Practical Guide to the Genetic Family History includes remarks by renowned medical geneticist Arno Motulsky, as well as information on structuring an accurate pedigree and its components, including: * Using a pedigree to identify individuals with an increased susceptibility to cancer * Family history, adoption, and their challenges * The connection between the pedigree and assisted reproductive technologies * Making referrals for genetic services * Neurological and neuromuscular conditions * Tables covering hearing loss, mental retardation, dementia, and seizures * Five case studies of genetics in practice An essential reference for genetics clinics, medical geneticists, and counselors, The Practical Guide to the Genetic Family History is also an invaluable aid for both primary care and specialist physicians who need an up-to-date reference that emphasizes both the science and art of modern clinical genetics.
The Universe Within
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Author : EDWIN. KIRK
language : en
Publisher:
Release Date : 2021-02-11
The Universe Within written by EDWIN. KIRK and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-02-11 with categories.
Genes -- we all have them and we're all affected by them, often in unknown ways. Whether directly inherited or modified by our environment, genes control or significantly influence almost every aspect of our lives, from the success of our conception and the development of our sexual characteristics, to the colour of our skin, hair, and eyes; our height and weight; our health; and, unfortunately, an untold number of diseases. For many, the first time that genetics truly matters to them is in a doctor's office as they learn about a condition that may affect them, their unborn children, or even their wider family. Yet from the first laborious survey of the human genome twenty years ago to the commercial machines that now sequence 6,000 genomes per year, a revolution is taking place in medicine. Navigating this world of heartbreaking uncertainties, tantalising possibilities, and thorny questions of morality is Professor Edwin Kirk, a rare doctor who works both in the lab and with patients, and who has over two decades of experience. In The Genes That Make Us, he explains everything you need to know with clarity, insight, and great humanity.
Life Histories Of Genetic Disease
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Author : Andrew J. Hogan
language : en
Publisher: JHU Press
Release Date : 2016-11
Life Histories Of Genetic Disease written by Andrew J. Hogan and has been published by JHU Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-11 with Medical categories.
A history of genetic testing warns that such tests may tell us more than we want to know. Medical geneticists began mapping the chromosomal infrastructure piece by piece in the 1970s by focusing on what was known about individual genetic disorders. Five decades later, their infrastructure had become an edifice for prevention, allowing today’s expecting parents to choose to test prenatally for hundreds of disease-specific mutations using powerful genetic testing platforms. In Life Histories of Genetic Disease, Andrew J. Hogan explores how various diseases were “made genetic” after 1960, with the long-term aim of treating and curing them using gene therapy. In the process, he explains, these disorders were located in the human genome and became targets for prenatal prevention, while the ongoing promise of gene therapy remained on the distant horizon. In narrating the history of research that contributed to diagnostic genetic medicine, Hogan describes the expanding scope of prenatal diagnosis and prevention. He draws on case studies of Prader-Willi, fragile X, DiGeorge, and velo-cardio-facial syndromes to illustrate that almost all testing in medical genetics is inseparable from the larger—and increasingly “big data”–oriented—aims of biomedical research. Hogan also reveals how contemporary genetic testing infrastructure reflects an intense collaboration among cytogeneticists, molecular biologists, and doctors specializing in human malformation. Hogan critiques the modern ideology of genetic prevention, which suggests that all pregnancies are at risk for genetic disease and should be subject to extensive genomic screening. He examines the dilemmas and ethics of the use of prenatal diagnostic information in an era when medical geneticists and biotechnology companies have begun offering whole genome prenatal screening—essentially searching for any disease-causing mutation. Hogan’s focus and analysis is animated by ongoing scientific and scholarly debates about the extent to which the preventive focus in contemporary medical genetics resembles the aims of earlier eugenicists. Written for historians, sociologists, and anthropologists of science and medicine, as well as bioethics scholars, physicians, geneticists, and families affected by genetic conditions, Life Histories of Genetic Disease is a profound exploration of the scientific culture surrounding malformation and mutation.
Principles Of Medical Genetics
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Author : Thomas D. Gelehrter
language : en
Publisher: Lippincott Williams & Wilkins
Release Date : 1998
Principles Of Medical Genetics written by Thomas D. Gelehrter and has been published by Lippincott Williams & Wilkins this book supported file pdf, txt, epub, kindle and other format this book has been release on 1998 with Medical categories.
Emery And Rimoin S Principles And Practice Of Medical Genetics And Genomics
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Author : Reed E. Pyeritz
language : en
Publisher: Academic Press
Release Date : 2018-11-20
Emery And Rimoin S Principles And Practice Of Medical Genetics And Genomics written by Reed E. Pyeritz and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-11-20 with Science categories.
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
The Pku Paradox
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Author : Diane B. Paul
language : en
Publisher: JHU Press
Release Date : 2013-12-01
The Pku Paradox written by Diane B. Paul and has been published by JHU Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-12-01 with Medical categories.
How did a disease of marginal public health significance acquire paradigmatic status in public health and genetics? In a lifetime of practice, most physicians will never encounter a single case of PKU. Yet every physician in the industrialized world learns about the disease in medical school and, since the early 1960s, the newborn heel stick test for PKU has been mandatory in many countries. Diane B. Paul and Jeffrey P. Brosco’s beautifully written book explains this paradox. PKU (phenylketonuria) is a genetic disorder that causes severe cognitive impairment if it is not detected and treated with a strict and difficult diet. Programs to detect PKU and start treatment early are deservedly considered a public health success story. Some have traded on this success to urge expanded newborn screening, defend basic research in genetics, and confront proponents of genetic determinism. In this context, treatment for PKU is typically represented as a simple matter of adhering to a low-phenylalanine diet. In reality, the challenges of living with PKU are daunting. In this first general history of PKU, a historian and a pediatrician explore how a rare genetic disease became the object of an unprecedented system for routine testing. The PKU Paradox is informed by interviews with scientists, clinicians, policymakers, and individuals who live with the disease. The questions it raises touch on ongoing controversies about newborn screening and what happens to blood samples collected at birth.
Techniques Of Medical Genetics
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Author : Dr. Ruchi Ratnesh
language : en
Publisher: EduPedia Publications Pvt. Ltd.
Release Date : 2019-10-14
Techniques Of Medical Genetics written by Dr. Ruchi Ratnesh and has been published by EduPedia Publications Pvt. Ltd. this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-10-14 with Science categories.
The knowledge of genetics and the bioinformatics has increased rapidly over the past few decades. The application of this knowledge has become an integral part of patient care and the preventive thrust of modern medicine. The aetiology of the majority of disorders has some genetic component. The subject of genetics is gaining utmost importance in the medical science. However, most of the medical students find this subject difficult to understand and therefore, neglect it. The aim of this book is to present the text in such a way that it provides the clear and conceptual understanding of the subject. A simple and concise account of different techniques of genetics will help students understand them better. This book is not a comprehensive textbook of genetics. Instead, it takes a look at the basic concepts as well as interesting and clinically applicable aspects of genetics. This book on techniques of genetics emphasize the central principles and how they apply to practice. Photographs, illustrations, and tables containing patient/family vignettes demonstrate clinical relevance and enhance visual impact of the material for easier and more effective learning and retention. Includes access to the complete text and images online at student. The latest knowledge and research on gene identification, cancer genetics, gene testing and gene therapy, common disorders, ethical and social issues, and much more so you can keep up with current developments in genetics. Bioinformatics, NGS Data analysis, Barcoding and Multiplexing, Whole genome sequence analysis, Gene bank, Genomic browers and Genomic batabases are some of the interesting topics that has been provided for the students. A knowledge of molecular genetics is essential to understand the latest developments in medicine. An attempt has been made to outline the fundamentals of molecular genetics so that the reader gets familiar with the terminologies and techniques used in this field. The students from various nonmedical background will also find this book useful in familiarizing them with the clinically applied aspects of genetics. To make it easy, text is supported with the flowchart.