A Short History Of Medical Genetics

Author : Peter S. Harper
Publisher : Oxford University Press
Page : 570 pages
File Size : 41,5 Mb
Release : 2008
Category : Language Arts & Disciplines
ISBN : 9780195187502

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A Short History of Medical Genetics by Peter S. Harper Pdf

"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.

Author : Diane B. Paul,Jeffrey P. Brosco
Publisher : JHU Press
Page : 316 pages
File Size : 45,9 Mb
Release : 2013-12
Category : Medical
ISBN : 9781421411316

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The PKU Paradox by Diane B. Paul,Jeffrey P. Brosco Pdf

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.

Author : Krishna R. Dronamraju,Clair A. Francomano
Publisher : Springer Science & Business Media
Page : 238 pages
File Size : 46,8 Mb
Release : 2012-06-08
Category : Medical
ISBN : 9781461416777

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Victor McKusick and the History of Medical Genetics by Krishna R. Dronamraju,Clair A. Francomano Pdf

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.

Author : Golder Wilson
Publisher : Wiley-Liss
Page : 500 pages
File Size : 48,6 Mb
Release : 2000
Category : Medical
ISBN : UOM:39015050314163

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Clinical Genetics by Golder Wilson Pdf

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.

Author : Lynn B. Jorde
Publisher : Unknown
Page : 392 pages
File Size : 41,8 Mb
Release : 2006
Category : Genetic disorders
ISBN : UOM:39015063152527

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Medical Genetics by Lynn B. Jorde Pdf

'Medical Genetics' offers up-to-date information on modern genetics. This comprehensive study includes the latest findings from genetic research and how that knowledge can be used in clinical practice.

Author : MS Robin L. Bennett (CGC.)
Publisher : Wiley-Liss
Page : 276 pages
File Size : 55,5 Mb
Release : 1999-04-21
Category : Medical
ISBN : UOM:39015043086779

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The Practical Guide to the Genetic Family History by MS Robin L. Bennett (CGC.) Pdf

"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."--BOOK JACKET. "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."--Jacket.

Author : Adam Rutherford
Publisher : George Weidenfeld & Nicholson
Page : 0 pages
File Size : 43,9 Mb
Release : 2017
Category : Medical
ISBN : 1780229070

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A Brief History of Everyone who Ever Lived by Adam Rutherford Pdf

'A brilliant, authoritative, surprising, captivating introduction to human genetics. You'll be spellbound' Brian Cox This is a story about you. It is the history of who you are and how you came to be. It is unique to you, as it is to each of the 100 billion modern humans who have ever drawn breath. But it is also our collective story, because in every one of our genomes we each carry the history of our species - births, deaths, disease, war, famine, migration and a lot of sex. In this captivating journey through the expanding landscape of genetics, Adam Rutherford reveals what our genes now tell us about human history, and what history can now tell us about our genes. From Neanderthals to murder, from redheads to race, dead kings to plague, evolution to epigenetics, this is a demystifying and illuminating new portrait of who we are and how we came to be. *** 'A thoroughly entertaining history of Homo sapiens and its DNA in a manner that displays popular science writing at its best' Observer 'Magisterial, informative and delightful' Peter Frankopan 'An extraordinary adventure...From the Neanderthals to the Vikings, from the Queen of Sheba to Richard III, Rutherford goes in search of our ancestors, tracing the genetic clues deep into the past' Alice Roberts

Author : Erwin H. Ackerknecht
Publisher : JHU Press
Page : 312 pages
File Size : 44,9 Mb
Release : 1982-03
Category : Medical
ISBN : 0801827264

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A Short History of Medicine by Erwin H. Ackerknecht Pdf

Since it was first published in 1955, A Short History of Medicine has been hailed as the best available book of its kind: a concise and readable introduction to the history of medicine, written for students and professionals alike. In twenty short chapters, Ackerknecht traces the fascinating saga of man's progress in the science and art of medicine, from primitive times through early civilizations, classical antiquity, the Middle Ages and Renaissance, and into the mid-twentieth century. The struggles and triumphs of some of history's most renowned medical pioneers -- Hippocrates, Harvey, Jenner, Osler, and many more -- are here, but this is not a catalog of individual accomplishments. Ackerknecht strikes a balance between the history of medicine and its social and cultural background; between medical science and medical practice; and between clinical and preventative medicine, illuminating not only the world of medicine but the position of medicine in the world. --

Author : Lynn B. Jorde,John C. Carey,Michael J. Bamshad
Publisher : Elsevier Health Sciences
Page : 363 pages
File Size : 48,6 Mb
Release : 2009-10-06
Category : Medical
ISBN : 9780323075763

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Medical Genetics E-Book by Lynn B. Jorde,John C. Carey,Michael J. Bamshad Pdf

Medical Genetics is the clearest and most concise text on the subject, providing state-of-the-art coverage of clinically relevant molecular genetics. Lynn B. Jorde, PhD; John C. Carey, MD; and Michael J. Bamshad, MD integrate recent developments with clinical practice and emphasize the central principles of genetics and their clinical applications. Now in full color, this edition provides you with the stunning visual clarity so important in this field. Get the very latest on hot topics like gene identification, cancer genetics, gene testing and gene therapy, common diseases, ethical and social issues, personalized medicine, and much more. This is an indispensable resource that should be on every reading list. This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included. . Features mini-summaries, study questions, suggested reading, and a detailed glossary to supplement and reinforce what you learn from the text. Demonstrates clinical relevance through over 230 photographs, illustrations, and tables, along with boxes containing patient/family vignettes. Enhances the visual impact of the material with full-color illustrations throughout the text for easier and more effective learning and retention. Presents a new chapter on genomics and personalized medicine for the latest on these hot topics. Provides you with 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. Includes study questions at the end of every chapter so you can test yourself and retain the material. Features additional clinically commentary boxes throughout the text to show the relevance of genetics to everyday patient problems to prepare you for problem-based integrated courses.

Author : EDWIN. KIRK
Publisher : Unknown
Page : 128 pages
File Size : 48,9 Mb
Release : 2021-02-11
Category : Electronic
ISBN : 1912854368

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The Universe Within by EDWIN. KIRK Pdf

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.

Author : Thomas D. Gelehrter,Francis S. Collins,David Ginsburg
Publisher : Lippincott Williams & Wilkins
Page : 444 pages
File Size : 55,8 Mb
Release : 1998
Category : Medical
ISBN : 0683034456

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Principles of Medical Genetics by Thomas D. Gelehrter,Francis S. Collins,David Ginsburg Pdf

Author : Peter S. Harper
Publisher : CRC Press
Page : 362 pages
File Size : 54,6 Mb
Release : 2019-10-08
Category : Medical
ISBN : 9781000693263

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The Evolution of Medical Genetics by Peter S. Harper Pdf

This informative new book presents an accessible account of the development of medical genetics over the past 70 years, one of the most important areas of 20th, and now 21st, century science and medicine. Based largely on the author’s personal involvement and career as a leader in the field over the last half century, both in the UK and internationally, it draws on his interest and involvement in documenting the history of medical genetics. Underpinning the content is a unique series of 100 recorded interviews undertaken by the author with key older workers in the field, the majority British, providing invaluable information going back to the very beginnings of human and medical genetics. Focusing principally on medically relevant areas of genetics rather than the underlying basic science and technological aspects, the book offers a fascinating insight for those working and training in the field of clinical or laboratory aspects of medical genetics, genomics and allied areas; it will also be of interest to historians of science and medicine and to workers in the social sciences who are increasingly attracted by the social and ethical challenges posed by modern medical genetics and genomics.

Author : David L. Rimoin,Reed E. Pyeritz,Bruce Korf
Publisher : Elsevier
Page : 647 pages
File Size : 55,9 Mb
Release : 2013-05-15
Category : Science
ISBN : 9780124169821

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Emery and Rimoin's Essential Medical Genetics by David L. Rimoin,Reed E. Pyeritz,Bruce Korf Pdf

For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. Developed in parallel to the sixth edition, and featuring 174 original contributions from the many authors of the full set, this one volume work expertly condenses and synthesizes the most clinically relevant content, for convenient desk reference. Helping to bridge the gap between high-level molecular genetics and individual application, it follows the multi-volume set in encompassing scientific fundamentals, full spectrum discussion of major inherited disorders, and actionable therapies. Clinically oriented information is supported by concise descriptions of the principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease. This print volume is complemented and enhanced with online access to the complete text, online-only references, and high quality illustrations on www.expertconsult.com. Features 174 summarized contributions concisely discussing advances in cancer genetics, genomic technologies, and molecular genetics Contains hundreds of full colour illustrations supporting users with identification, concept illustration, and method processing Enhanced with full text online access, high quality illustrations, and online-only references at www.expertconsult.com

Author : Lynn B. Jorde
Publisher : Elsevier Masson
Page : 458 pages
File Size : 52,9 Mb
Release : 2003
Category : Medical
ISBN : 2842995759

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Medical Genetics by Lynn B. Jorde Pdf

The emphasis of this book is on those aspects of medical genetics most useful in a modern clinical practice. Clinical aspects of molecular genetics research have been incorporated throughout the spectrum of genetically determined diseases.

Author : Eberhard Passarge
Publisher : Thieme
Page : 721 pages
File Size : 41,7 Mb
Release : 2017-12-13
Category : Medical
ISBN : 9783132580022

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Color Atlas of Genetics by Eberhard Passarge Pdf

Ever since the International Human Genome Project achieved its extraordinary goal of sequencing and mapping the entire human genome, represented by approximately 3 billion base pairs, with its far-reaching implications for understanding the causes of human genetic disorders and their diagnosis, progress in the field has not slowed down. In the fifth edition of the bestselling Color Atlas of Genetics, readers will be rewarded with a complete and current overview of the field, with an emphasis on the interface between fundamental principles and practical applications in medicine and the role of signaling pathways in causing diseases. Using the acclaimed Flexibook format designed for easy visual learning and retention, the atlas is invaluable for students, clinicians, and scientists interested in staying up to date in this fast-evolving area. New fully illustrated topics in the revised fifth edition of the atlas include: An overview of disorders resulting from structural changes of the genome (genomic disorders) Abnormal imprinting patterns Examples of impaired signal pathways (laminopathies, fibrillinopathies, cohesinopathies, and others) The CRISPR-Cas system Genetic features of the aging processes Disorders due to rearrangements of chromatin in the cell nucleus, and others With almost 200 stunning color plates explained by concise texts on the opposite pages, including tables presenting useful data, a glossary of terms, key references, and online resources, the atlas presents clear and accessible concepts. It is an excellent refresher for investigators in any field of medicine or biology.