Medical genetics Books

Book SynopsisA TIMES ENVIRONMENT AND SCIENCE BOOK OF THE YEAR 2022 'Brilliant .. I cannot recommend this book strongly enough' - Henry Marsh, New Statesman (about The Idea of the Brain) A new gene editing technology, invented just seven years ago, has turned humanity into gods. Enabling us to manipulate the genes in virtually any organism with exquisite precision, CRISPR has given scientists a degree of control that was undreamt of even in science fiction. But CRISPR is just the latest, giant leap in a long journey to master genetics. The Genetic Age shows the astonishing, world-changing potential of the new genetics and the possible threats it poses, sifting between fantasy and the reality when it comes to both benefits and dangers. By placing each phase of discovery, anticipation and fear in the context of over fifty years of attempts to master the natural world, Matthew Cobb, the Baillie-Gifford-shortlisted author of The Idea of the Brain, weaves the stories of science, history and culture to shed new light on our future. With the powers now at our disposal, it is a future that is almost impossible to imagine - but it is one we will create ourselves.Trade ReviewFascinating, occasionally chilling and very readable -- Rhys Blakely * The Times *An excellent primer for anyone seeking a well-informed discussion of the moral implications of this enduringly controversial science * Economist *Detailed and deeply researched ... striking ... complex -- Henry Marsh * New Statesman *Disturbing and readable * New Scientist *Comprehensive ... you can sense Cobb's excitement and enthusiasm * TLS *[A] deeply researched and often deeply troubling history of gene science ... [in search of] decency and honor in a morally complex field. -- Deborah Blum * New York Times *Masterfully written and deeply researched ... Cobb catapults us into a world full of the joys of discovery, the intense rivalries and friendships between scientists, and the many moral and scientific uncertainties about genetics that await us -- Siddhartha Mukherjee, author * The Gene: An Intimate History *The ideal guide to what is not just a fiendishly complex area of science but also an ethical minefield * Mail on Sunday *There are serious questions about the safety of genetic engineering, but also profound social and ethical questions about its use. Matthew Cobb, in his detailed and deeply researched book ... is concerned as much about these questions as he is about the technical details ... but the book is not a primer for understanding the field; it is much more than that. -- Henry Marsh * New Statesman *Wonderful ... a thoughtful, lively and evocative exposition of the history of genetic engineering. -- Adrian Woolfson * Wall Street Journal *Excellent and occasionally harrowing ... masterfully told history ... offers a clear-eyed, well-researched view of the promises and pitfalls of a necessary new technology * Forbes *[An] indefatigable exploration of the genesis of biology ... beautifully lays out the sheer improbability of our biosphere. * The Atlantic *A look at genetic engineering that provides valuable background for rethinking the appropriate uses for these technologies. * Kirkus *A truly valuable book ... most of us get very big picture ideas of what's going on with gene editing and other genetic modifications from the media. Now we've got the real story -- Brain Clegg * Popular Science *An engaging, intriguing book about the history of genetic engineering and where it might lead society ... Excellent. * Library Journal *[A] remarkable jaunt through the twists and turns of the genetic engineering revolution ... a valuable new go-to source. -- Luis A. Campos * Science *Cobb does an excellent job describing the history and the nuts and bolts of genetic engineering. But his real focus, as the title of his book implies, is on the sociological, psychological, and philosophical questions surrounding the genetic age. * GEN Biotechnology *His evenhanded critique balances caution about emergent technologies with tart scepticism of overreaching claims ... The result is an eye-opening - and occasionally hair-raising - indictment of scientific hubris and recklessness. * Publishers Weekly *The book provides such rich description that even the most knowledgeable readers ... will learn something new ... fascinating. * Journal of Medical Humanities *Powerful gene technologies, long foreseen, are finally with us. Taking the measure of this daunting prospect calls for historical acumen, technical appreciation, and a clear-eyed view of human foibles. As this book attests, Matthew Cobb has all three -- Jon TurneyA superb account of genetic engineering in life and culture, in all its myriad anxieties and exhilarations. Should we be scared? Read this book and you'll have a sense of the answer -- Adam Roberts, author * It's the End of the World *The essential, engrossing and disturbing story of a science that enabled us to create new forms of life -- Victoria GillMatthew Cobb is a great storyteller of science, a tapestry of intriguing and enlightening ideas thoughtfully and entertainingly told -- Robin InceProfound and important ... Written with astute, calm and clear-sighted judgement, The Genetic Age is likely to be the definitive account of the rise of gene biotechnologies. Neither a credulous booster nor a doom-mongering catastrophist, Matthew Cobb steers a prudent path through the promise and perils of genetic engineering -- Philip Ball, author * Critical Mass *Faced with a new round of genetic dreams and nightmares, Matthew Cobb skilfully sifts the truth from the hype in this thrilling and alarming account of our most dangerous and exciting technology -- Paul Mason, author * How to Stop Fascism *The promise of genetic engineering is limitless, the stuff of dreams and nightmares, and that is also the problem, as Matthew Cobb shows us in this elegant and meticulously researched history. Packed with human stories and fascinating detail, this is the journey of discovery that changed how we view life itself. -- Gaia Vince, author * Transcendence, Adventures in the Anthropocene *A lucid and vigorously insightful account of the pitfalls and triumphs of the twenty-first century's most ethically challenging and potentially world-changing technology -- Paul McAuley, author * Fairyland *A superb guide to the global history of the dreams, fears and science of genetic engineering, and why it matters for tomorrow -- Jon Agar, author * Turing and the Universal Machine *A gripping, bawdy tale of science fiction morphing into business history ... Exhaustively researched and beautifully written ... the histories of recombinant DNA, biotech, GMOs, gene therapy, and cloning in a single lively, accessible account -- Nathaniel Comfort, Professor of the History of Medicine, John Hopkins University, and author * The Tangled Field: How Genetics Became the Heart of American Medicine *A riveting guide to the new age of genome engineering, revealing how ideas and technology that until recently existed only in science fiction are now a stunning clinical reality ... Required reading for anyone who cares about the future of humanity and our planet -- Kevin Davies, author * Editing Humanity *The genetic advances of the past half-century have raised the possibility that we can not only read the instructions that make living things, including ourselves, but also edit them at will. As a geneticist, Matthew Cobb celebrates the potential of these advances for medicine, agriculture and biodiversity. As a historian, however, he sets them against a complex social, political and cultural backdrop, arguing that everyone should have a voice in deciding what is necessary and right, not just what is possible. His riveting analysis warns that in a world beset by poverty, inequality and climate catastrophe, chasing apparently dazzling technofixes is rarely cost effective or morally justified. -- Georgina Ferry, scientist and broadcaster

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Book SynopsisObesity, autism, mental health problems, IBS, allergies, auto-immunity, cancer. Does the answer to the modern epidemic of Western' diseases lie in our gut?You are 10% human. For every one of your cells, there are nine impostors hitching a ride. You are not just flesh and bone, but also bacteria and fungi. And you are more them' than you are you'.Your gut alone hosts 100 trillion of them and until recently we thought that our microbes didn't matter. This is all set to change as the latest scientific research tells a very different story, one where microbes run our bodies and becoming healthy is impossible without them.In this ground-breaking book, biologist Alanna Collen reveals how our personal colony of microbes influence our weight, immune system, mental health and even our choice of partner. This is a new way of understanding modern diseases obesity, autism, mental health problems, gut disorders, allergies, auto-immunity and even cancer as she argues they have their root in our faTrade Review‘A fascinating study of the intertwined lives of microbes and humans, ‘10% Human’, is a manual for the new,healthy way of being dirty … Read it, and you will learn to love your microbiota’ Newsweek ‘A welcome antidote to the simplistic "boost your health with probiotics" books and articles posing as science (but serving mostly commerce), Collen dares to tell the messy truth about what science knows – and doesn't know – about the microbes that live in us, live with us, and in some ways even become us … [Collen] is clearly an expert in the field … fascinating … Everything you wanted to know about microbes but were afraid to ask’ Kirkus, *Starred* Review

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Book SynopsisThe best-selling author of Leonardo da Vinci and Steve Jobs returns. In 2012, Nobel Prize winning scientist Jennifer Doudna hit upon an invention that will transform the future of the human race: an easy-to-use tool that can edit DNA. Known as CRISPR, it opened a brave new world of medical miracles and moral questions. It has already been deployed to cure deadly diseases, fight the coronavirus pandemic of 2020, and make inheritable changes in the genes of babies.  But what does that mean for humanity? Should we be hacking our own DNA to make us less susceptible to disease? Should we democratise the technology that would allow parents to enhance their kids? After discovering this CRISPR, Doudna is now wrestling these even bigger issues. THE CODE BREAKERS is an examination of how life as we know it is about to change – and a brilliant portrayal of the woman leading the way.

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Book SynopsisMaster the ideas that have shaped the study of genetics today. In a series of 50 accessible essays, Mark Henderson and Helen Sims introduce and explain the central ideas of genetics, beginning with the theory of evolution to the very latest, cutting-edge developments in gene therapy and artificial life. From the double helix and how nature and nurture work together, to genetic testing and race, 50 Genetics Ideas You Really Need to Know is a complete introduction to this young and ground-breaking strand of science.

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Book SynopsisA TIMES ENVIRONMENT AND SCIENCE BOOK OF THE YEAR 2022 'The ideal guide to what is not just a fiendishly complex area of science but also an ethical minefield' Mail on Sunday A new gene editing technology, invented just seven years ago, has turned humanity into gods. Enabling us to manipulate the genes in virtually any organism with exquisite precision, CRISPR has given scientists a degree of control that was undreamt of even in science fiction. But CRISPR is just the latest, giant leap in a long journey to master genetics. The Genetic Age shows the astonishing, world-changing potential of the new genetics and the possible threats it poses, sifting between fantasy and the reality when it comes to both benefits and dangers. By placing each phase of discovery, anticipation and fear in the context of over fifty years of attempts to master the natural world, Matthew Cobb, the Baillie-Gifford-shortlisted author of The Idea of the Brain, weaves the stories of science, history and culture to shed new light on our future. With the powers now at our disposal, it is a future that is almost impossible to imagine - but it is one we will create ourselves.Trade ReviewFascinating, occasionally chilling and very readable -- Rhys Blakely * The Times *Detailed and deeply researched ... striking ... complex -- Henry Marsh * New Statesman *[A] deeply researched and often deeply troubling history of gene science ... [in search of] decency and honor in a morally complex field. -- Deborah Blum * New York Times *Disturbing and readable * New Scientist *Comprehensive ... you can sense Cobb's excitement and enthusiasm * TLS *The ideal guide to what is not just a fiendishly complex area of science but also an ethical minefield * Mail on Sunday *There are serious questions about the safety of genetic engineering, but also profound social and ethical questions about its use. Matthew Cobb, in his detailed and deeply researched book ... is concerned as much about these questions as he is about the technical details ... but the book is not a primer for understanding the field; it is much more than that. -- Henry Marsh * New Statesman *Wonderful ... a thoughtful, lively and evocative exposition of the history of genetic engineering. -- Adrian Woolfson * Wall Street Journal *Excellent and occasionally harrowing ... masterfully told history ... offers a clear-eyed, well-researched view of the promises and pitfalls of a necessary new technology * Forbes *[An] indefatigable exploration of the genesis of biology ... beautifully lays out the sheer improbability of our biosphere. * The Atlantic *A look at genetic engineering that provides valuable background for rethinking the appropriate uses for these technologies. * Kirkus *A truly valuable book ... most of us get very big picture ideas of what's going on with gene editing and other genetic modifications from the media. Now we've got the real story -- Brain Clegg * Popular Science *An engaging, intriguing book about the history of genetic engineering and where it might lead society ... Excellent. * Library Journal *[A] remarkable jaunt through the twists and turns of the genetic engineering revolution ... a valuable new go-to source. -- Luis A. Campos * Science *Cobb does an excellent job describing the history and the nuts and bolts of genetic engineering. But his real focus, as the title of his book implies, is on the sociological, psychological, and philosophical questions surrounding the genetic age. * GEN Biotechnology *His evenhanded critique balances caution about emergent technologies with tart scepticism of overreaching claims ... The result is an eye-opening - and occasionally hair-raising - indictment of scientific hubris and recklessness. * Publishers Weekly *The book provides such rich description that even the most knowledgeable readers ... will learn something new ... fascinating. * Journal of Medical Humanities *Powerful gene technologies, long foreseen, are finally with us. Taking the measure of this daunting prospect calls for historical acumen, technical appreciation, and a clear-eyed view of human foibles. As this book attests, Matthew Cobb has all three -- Jon TurneyA superb account of genetic engineering in life and culture, in all its myriad anxieties and exhilarations. Should we be scared? Read this book and you'll have a sense of the answer -- Adam Roberts, author * It's the End of the World *Matthew Cobb is a great storyteller of science, a tapestry of intriguing and enlightening ideas thoughtfully and entertainingly told -- Robin InceProfound and important ... Written with astute, calm and clear-sighted judgement, The Genetic Age is likely to be the definitive account of the rise of gene biotechnologies. Neither a credulous booster nor a doom-mongering catastrophist, Matthew Cobb steers a prudent path through the promise and perils of genetic engineering -- Philip Ball, author * Critical Mass *Faced with a new round of genetic dreams and nightmares, Matthew Cobb skilfully sifts the truth from the hype in this thrilling and alarming account of our most dangerous and exciting technology -- Paul Mason, author * How to Stop Fascism *The promise of genetic engineering is limitless, the stuff of dreams and nightmares, and that is also the problem, as Matthew Cobb shows us in this elegant and meticulously researched history. Packed with human stories and fascinating detail, this is the journey of discovery that changed how we view life itself. -- Gaia Vince, author * Transcendence, Adventures in the Anthropocene *A lucid and vigorously insightful account of the pitfalls and triumphs of the twenty-first century's most ethically challenging and potentially world-changing technology -- Paul McAuley, author * Fairyland *A superb guide to the global history of the dreams, fears and science of genetic engineering, and why it matters for tomorrow -- Jon Agar, author * Turing and the Universal Machine *A gripping, bawdy tale of science fiction morphing into business history ... Exhaustively researched and beautifully written ... the histories of recombinant DNA, biotech, GMOs, gene therapy, and cloning in a single lively, accessible account -- Nathaniel Comfort, Professor of the History of Medicine, John Hopkins University, and author * The Tangled Field: How Genetics Became the Heart of American Medicine *A riveting guide to the new age of genome engineering, revealing how ideas and technology that until recently existed only in science fiction are now a stunning clinical reality ... Required reading for anyone who cares about the future of humanity and our planet -- Kevin Davies, author * Editing Humanity *The genetic advances of the past half-century have raised the possibility that we can not only read the instructions that make living things, including ourselves, but also edit them at will. As a geneticist, Matthew Cobb celebrates the potential of these advances for medicine, agriculture and biodiversity. As a historian, however, he sets them against a complex social, political and cultural backdrop, arguing that everyone should have a voice in deciding what is necessary and right, not just what is possible. His riveting analysis warns that in a world beset by poverty, inequality and climate catastrophe, chasing apparently dazzling technofixes is rarely cost effective or morally justified. -- Georgina Ferry, scientist and broadcaster

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Book Synopsis'An excellent, brisk guide to what is likely to happen as opposed to the fantastically remote.' - Los Angeles Review of BooksIn 2018 the world woke up to gene editing with a storm of controversy over twin girls born in China with genetic changes deliberately introduced by scientists - changes they will pass on to their own offspring. Genetic modification (GM) has been with us for 45 years now, but the new system known as CRISPR or gene editing can manipulate the genes of almost any organism with a degree of precision, ease and speed that we could only dream of ten years ago. But is it ethical to change the genetic material of organisms in a way that might be passed on to future generations? If a person is suffering from a lethal genetic disease, is it unethical to deny them this option? Who controls the application of this technology, when it makes 'biohacking' - perhaps of one's own genome - a real possibility?Nessa Carey's book is a thrilling and timely snapshot of a cutting-edge technology that will radically alter our futures and the way we prevent disease.'A focused snapshot of a brave new world.' - Nature 'A brisk, accessible primer on the fast-moving field, a clear-eyed look at a technology that is already driving major scientific advances - and raising complex ethical questions.' - Emily Anthes, UndarkTrade ReviewCarey's trawl of potential applications - such as high-yield rice varieties, therapies for sickle-cell disease and germline gene editing - is edifying. A focused snapshot of a brave new world. * Nature *[A]n excellent, brisk guide to what is likely to happen as opposed to the fantastically remote. * Los Angeles Review of Books *A brisk, accessible primer on the fast-moving field, a clear-eyed look at a technology that is already driving major scientific advances - and raising complex ethical questions. -- Emily Anthes * Undark *

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Book SynopsisTable of Contents1 The History and Impact of Genetics in Medicine Section A: The Scientific Basis of Human Genetics 2 The Cellular and Molecular Basis of Inheritance 3 Chromosomes and Cell Division 4 Finding the Cause of Monogenic Disorders by Identifying Disease Genes 5 Laboratory Techniques for Diagnosis of Monogenic Disorders 6 Patterns of Inheritance 7 Population and Mathematical Genetics 8 Risk Calculation 9 Developmental Genetics Section B: Genetics in Medicine and Genomic Medicine 10 Common Disease, Polygenic and Multifactorial Genetics 11 Screening for Genetic Disease 12 Haemoglobin and the Haemoglobinopathies 13 Immunogenetics 14 The Genetics of Cancer. . .and Cancer Genetics 15 Pharmacogenomics, Precision Medicine and the Treatment of Genetic Disease Section C: Clinical Genetics, Counselling and Ethics 16 Congenital Abnormalities, Dysmorphic Syndromes and Intellectual Disability 17 Chromosome Disorders 18 Inborn Errors of Metabolism 19 Mainstream Monogenic Disorders 20 Prenatal Testing and Reproductive Genetics 21 Genetic Counselling 22 Ethical and Legal Issues in Medical Genetics

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Book SynopsisA geneticist tells the stories of men, women, and children whose genes have shaped their lives in unexpected ways. It was while listening to a colleague tell the parents of a newborn girl that their daughter was going to die that a lifelong interest in genetic medicine was sparked in Dr Edwin Kirk. Warmth and gentleness tempered a direct, sure manner — this was the medicine he wanted to practise, where the most advanced science and the most deeply human meet. Twenty-five years later, Dr Kirk works both with patients and in the lab, and he spearheads a campaign that will change the way we think about having babies. His experience is without parallel, but it is his humour and insight that make all the difference. Find out why Dr Kirk found himself among hundreds of people, each with a glass of poison in front of them — and how you might perform the same experiment yourself (without the poison). Learn how the realisation that a young boy wasn’t short ended up saving the life of his mother — and how Angelina Jolie has saved the lives of many more. Sit in the room with Dr Kirk and his patients as they navigate the world of heartbreaking uncertainties, tantalising possibilities, and thorny questions of morality. In genetics, it is the particularities of an individual’s history that matter, and here, in clear and considerate writing, those individual stories are given voice.Trade Review‘This is an excellent book that explores the history, ethics, patient stories, and explanations of science in a sensitive and relatable way. It is a very readable book that does not overwhelm the reader with scientific facts. It takes a complicated topic in medicine and makes genetics accessible to a wider audience.’ -- Judges’ citation from the 2022 BMA medical book awards‘Admirable … With great precision and detail, Dr Kirk explores the unexpected ways in which our genes shape our lives … A renowned geneticist, Kirk is also a capable writer. He is humorous, modest, insightful, and humane.’ -- Kevin O’Sullivan * Irish Examiner *‘This new book sets out to share the experiences and anecdotes of a career in genetic medicine more than two-decades long, while narrating segments of the history of genetic pathology and exploring the world of genes today and to come … Kirk makes effective use of footnotes to deflate the academic style and maintain a sense of personality and fun.’ -- David Ferrell * Canberra Times *‘Both an account of the human stories at the heart of Kirk’s practice and a beginner’s guide to genetic medicine, The Genes That Make Us tells of the significant progress that has been made in genetics over the past two decades, while also signalling how far there is left to travel.’ -- Diane Stubbings * Australian Book Review *

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Book SynopsisBased on their extensive experience of clinical work, the authors emphasize the practical issues related to the healthcare of individuals and families. Genetics for the Health Sciences takes an holistic approach, from preconception to adulthood, and addresses the false notion that clinical genetics is of relevance only to those who are planning a family. The book enables nurses, midwives, genetic counselors and doctors to apply the general principles of genetics in their routine clinical practice. As well as discussing the basic principles, Genetics for the Health Sciences also describes the latest technologies and shows how these can be applied to clinical practice. This is an essential text which helps all those in clinical healthcare understand the genetics they need in their professional roles. It is also an ideal coursebook for students in the healthcare professions seeking an understanding of core genetic principles and how these are applied in practice. Reviews: 'The text is a compact, concise presentation of the basic concepts in genetics science and the impact of genetics across the lifespan. The organization of the text increases its usefulness to clinicians as each specialty area could easily locate the information most pertinent to their work...The text is well illustrated throughout, again providing summarized information that is easily accessed. An especially helpful feature of this text is the presence of multiple case studies in each chapter, making this text particularly useful for teaching. I think faculty teaching students in advanced practice nursing programs and allied health courses would find this text a succinct addition to their course. However, I could also see this text being useful in RN preparation curriculum. It could easily be a text that would carry over for several specialty areas and provide additional material specific to genetics in each area. Genetics for Health Sciences: A Handbook for Clinical Healthcare is a welcome addition to the rather sparse choices available for presenting genetics content in clinical practice curriculum. Rebekah Hamilton, ISONG, June 2010 'Tremendous progress in recent years has shaped the field of medical genetics, which continues to expand to involve almost every aspect of human health. Hence, it is necessary for every healthcare professional to acquire a basic understanding of this science. This is clearly the objective of this well-edited and structured book by Skirton and Patch in its second updated edition. The authors' considerable experience in genetics, through direct clinical practice in addition to organisational and academic roles, can be appreciated in the practical aspect of their writing. The book starts with useful definitions and alerts the reader to the wide applicability of genetics through clinical cases, raising questions that are answered and discussed when relevant in later chapters. Important aspects of genetic counselling, from basic skills such as risk estimation using family trees to more complex ones related to effective ethical communication with the clients in the light of their needs and the different models of counselling, are then discussed in two chapters. However, given their intrinsic function in medical genetics, these issues are also efficiently tackled in the clinical cases outlined in each chapter. The authors then describe important scientific concepts and techniques that are necessary for a good clinical understanding of genetics. Although this section may seem short, the additional resources provided at the end are very useful. Likewise, for all topics covered in the book, the updated links provided serve as a handy catalogue for the health professional seeking extra information. Next, the concepts and techniques described in the first part of the book are applied directly to common genetic conditions and issues faced by different age groups, from prenatal care to older adulthood in separate chapters. This organisation puts into perspective the importance of genetics in different medical specialities and settings. This book, with its concise yet comprehensive explanation of a complex rapidly growing field, should prove to be a valuable resource for a diverse audience of health professionals, including midwives, nurses and physicians, who confront genetic issues during their daily practice without being specialists in medical genetics.' Nadine Taleb, Journal of Medical Genetics 'When first asked to write this book review I thought to myself how it would be important to give a rounded report on both the book’s strengths and weaknesses. After reading the book, however, I realised that it is difficult to find weaknesses. The authors, Heather Skirton and Christine Patch, between them have over 30 years of experience in clinical genetics. Their experience of explaining genetics in their professional roles shines through in the way they have written the book. They make complex genetic principles interesting and understandable. The book does not baffle or patronise. The book is easily navigated. It is broken down into clear chapters that are ordered in a pleasingly logical way. The first chapter 'sets the scene' by introducing the reader to important concepts related to genetic health care including issues such as ethical practice, the different forms of genetic testing and the impact of genetic conditions on families. The next chapters then discuss the family tree, counselling issues, genetic science and public health genetics. The remaining chapters then explore the core topics relating to particular life stages from preconception to older adulthood. It engages the reader from the start when it introduces seven ‘core’ families that reappear throughout the book to highlight a number of key issues. The text is peppered with clear illustrations, useful step by step guides, practical checklists, and test yourself sections making the book lively and dynamic. The test yourself sections make the book student friendly and would also make good teaching aids to lecturers and tutors. At the start of the book there is a list of helpful websites and at the end of each chapter there is a list of resources for those who wish to extend their knowledge. One of the main strengths of this book is its refreshingly practical approach. All too often books can be written in a way in which it is difficult for the reader to transfer the knowledge that they have gained into their day-to-day practice. The introduction states that 'the aim of this book is to enable those in healthcare to update their knowledge on topics related to genetics and genomics that have an impact in their daily work and apply it usefully in patient care'. Given the fact that genetics has increasingly become a core component in a number of specialties, one would think that meeting this aim for all would be a tall order. This book however eloquently does so using case examples and key practice points boxes throughout to demonstrate the clinical application of the topic under discussion. Another of the book’s main strengths is the way in which it promotes individualised care by enabling the reader to consider the impact of genetic conditions from the patients’ point of view. Genetics for the Health Sciences brings genetics into common healthcare settings. It is highly recommended as an essential text for health care professionals in roles across all specialties. It is also recommended to students, lecturers, social scientists; to anyone who has an interest in genetics and wishes to extend their knowledge. It is a joy to read and could be read from cover to cover.' Helen Thistlewood, Medical Genetics 'Genetics is at the forefront of medicine and nurses are expected to have a basic understanding of the subject. This handbook is well written and the authors do a good job of making this complex topic understandable. The book lists prenatal, childhood and adult genetic conditions that may involve testing and counselling. Genetic services, types of genetic testing and the impact of genetic conditions on families are discussed in depth, and case studies highlight the emotional and psychological needs of patients and their families. Guidelines for drawing family trees and practical examples of risk assessment are well explained. The perspective of the patient regarding risk and lay knowledge is also considered... All departments should have a copy of this book on their shelves.' Audrey Ardern-Jones, Nursing StandardTrade ReviewThe stated intent for Genetics for Health Sciences: A Handbook for Clinical Healthcare is “to help those in clinical healthcare understand the genetics they need in their professional roles”. The book more than adequately meets this goal. This book is an updated and more broadly focused version of the authors’ first text Genetics for Healthcare Professionals. The text is a compact, concise presentation of the basic concepts in genetics science and the impact of genetics across the lifespan. The organization of the text increases its usefulness to clinicians as each specialty area could easily locate the information most pertinent to their work. The authors begin the text by “Setting the scene” and providing some definitions, areas of concern and issues involved in genetic testing. Brief chapters on family history, counseling issues, and public health genetics precede the more specialty oriented chapters. The chapter on basic genetics should provide a good refresher course for those who have had some genetics education in the past and provide an introduction for those who have not had any genetics education in the recent past. The use of over 20 figures helps clarify some of the basic genetic concepts presented. The next six chapters cover possible areas of concerns across the lifespan that involve genetic diagnosis, clinical follow-up, and health care issues. The authors present material of interest starting at the life stage before conception and concluding in older adulthood. The book concludes with a chapter addressing genetic competency in the health care professions. The text is well illustrated throughout, again providing summarized information that is easily accessed. An especially helpful feature of this text is the presence of multiple case studies in each chapter making this text particularly useful for teaching. I think faculty teaching students in advanced practice nursing programs and allied health courses would find this text a succinct addition to their course. However, I could also see this text being useful in RN preparation curriculum. It could easily be a text that would carry over for several specialty areas and provide additional material specific to genetics in each area. Genetics for Health Sciences: A Handbook for Clinical Healthcare is a welcome addition to the rather sparse choices available for presenting genetics content in clinical practice curriculum. -- Rebekah HamiltonTremendous progress in recent years has shaped the field of medical genetics, which continues to expand to involve almost every aspect of human health. Hence, it is necessary for every healthcare professional to acquire a basic understanding of this science. This is clearly the objective of this well-edited and structured book by Skirton and Patch in its second updated edition. The authors' considerable experience in genetics, through direct clinical practice in addition to organisational and academic roles, can be appreciated in the practical aspect of their writing. The book starts with useful definitions and alerts the reader to the wide applicability of genetics through clinical cases, raising questions that are answered and discussed when relevant in later chapters. Important aspects of genetic counselling, from basic skills such as risk estimation using family trees to more complex ones related to effective ethical communication with the clients in the light of their needs and the different models of counselling, are then discussed in two chapters. However, given their intrinsic function in medical genetics, these issues are also efficiently tackled in the clinical cases outlined in each chapter. The authors then describe important scientific concepts and techniques that are necessary for a good clinical understanding of genetics. Although this section may seem short, the additional resources provided at the end are very useful. Likewise, for all topics covered in the book, the updated links provided serve as a handy catalogue for the health professional seeking extra information. Next, the concepts and techniques described in the first part of the book are applied directly to common genetic conditions and issues faced by different age groups, from prenatal care to older adulthood in separate chapters. This organisation puts into perspective the importance of genetics in different medical specialities and settings. This book, with its concise yet comprehensive explanation of a complex rapidly growing field, should prove to be a valuable resource for a diverse audience of health professionals, including midwives, nurses and physicians, who confront genetic issues during their daily practice without being specialists in medical genetics. -- Nadine Taleb * Journal of Medical Genetics *Genetics is at the forefront of medicine and nurses are expected to have a basic understanding of the subject. This handbook is well written and the authors do a good job of making this complex topic understandable. The book lists prenatal, childhood and adult genetic conditions that may involve testing and counselling. Genetic services, types of genetic testing and the impact of genetic conditions on families are discussed in depth, and case studies highlight the emotional and psychological needs of patients and their families. Guidelines for drawing family trees and practical examples of risk assessment are well explained. The perspective of the patient regarding risk and lay knowledge is also considered. My only irritation related to the spelling of the word 'counselling' - as a UK published book I would have preferred it not to be spelt the American way with one 'l'. All departments should have a copy of this book on their shelves. -- Audrey Ardern-Jones * Nursing Standard *When first asked to write this book review I thought to myself how it would be important to give a rounded report on both the book’s strengths and weaknesses. After reading the book, however, I realised that it is difficult to find weaknesses. The authors, Heather Skirton and Christine Patch, between them have over 30 years of experience in clinical genetics. Their experience of explaining genetics in their professional roles shines through in the way they have written the book. They make complex genetic principles interesting and understandable. The book does not baffle or patronise. The book is easily navigated. It is broken down into clear chapters that are ordered in a pleasingly logical way. The first chapter “sets the scene” by introducing the reader to important concepts related to genetic health care including issues such as ethical practice, the different forms of genetic testing and the impact of genetic conditions on families. The next chapters then discuss the family tree, counselling issues, genetic science and public health genetics. The remaining chapters then explore the core topics relating to particular life stages from preconception to older adulthood. It engages the reader from the start when it introduces seven ‘core’ families that reappear throughout the book to highlight a number of key issues. The text is peppered with clear illustrations, useful step by step guides, practical checklists, and test yourself sections making the book lively and dynamic. The test yourself sections make the book student friendly and would also make good teaching aids to lecturers and tutors. At the start of the book there is a list of helpful websites and at the end of each chapter there is a list of resources for those who wish to extend their knowledge. One of the main strengths of this book is its refreshingly practical approach. All too often books can be written in a way in which it is difficult for the reader to transfer the knowledge that they have gained into their day-to-day practice. The introduction states that “the aim of this book is to enable those in healthcare to update their knowledge on topics related to genetics and genomics that have an impact in their daily work and apply it usefully in patient care”. Given the fact that genetics has increasingly become a core component in a number of specialties, one would think that meeting this aim for all would be a tall order. This book, however, eloquently does so using case examples and key practice points boxes throughout to demonstrate the clinical application of the topic under discussion. Another of the book’s main strengths is the way in which it promotes individualised care by enabling the reader to consider the impact of genetic conditions from the patients’ point of view. Genetics for the Health Sciences brings genetics into common healthcare settings. It is highly recommended as an essential text for health care professionals in roles across all specialties. It is also recommended to students, lecturers, social scientists; to anyone who has an interest in genetics and wishes to extend their knowledge. It is a joy to read and could be read from cover to cover. -- Helen Thistlewood * Human Genetics *Table of Contents1. Setting the scene 2. The family history 3. Counseling issues 4. Basic concepts in genetic science 5. Public health genetics 6. Before conception 7. Pregnancy and the perinatal period 8. Infancy 9. Childhood and adolescence 10. Adulthood 11. Older adulthood 12. Development of genetic healthcare competence in the health professions Glossary References Answers to Test Yourself questions Appendices Index

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Book SynopsisWhy are some people smarter than others? This volume presents scientific research about the fundamental human attribute of intelligence. Written by two internationally recognised experts in straightforward language, the chapters address mental processes, brain imaging, genetics, aging, evidence-based prospects for enhancing intelligence and more.Trade Review'A riveting survey of modern research to unlock the nature and biological foundations of human intelligence by pioneers in the field.' Aron K. Barbey, University of Illinois at Urbana-Champaign, USA'The Science of Human Intelligence by Richard J. Haier and Roberto Colom is probably the best book about human intelligence ever written. It comes as the second edition of Human Intelligence, written by Earl Hunt 12 years ago. Hunt's book was already a great text, which influenced research and teaching in the field considerably. This edition is much more than Hunt's book. It covers virtually everything we know about human intelligence: it provides an accurate and up-to-date picture of research findings and ideas, including the history, and the current cognitive and psychometric models, of intelligence, and summarizes and evaluates research on the brain, and the genetic, cultural, and environmental bases of intelligence. It is strongly suggested to anyone who wants to know how the human mind works and why humans differ on many of its functions.' Andreas Demetriou, University of Cyprus'Human intelligence is the major adaptive mechanism for humans. If humans and this planet are to survive, it will be important that we understand and optimize our intellectual capabilities. This book presents our current best understanding of human intelligence and how it should be studied.' Douglas K. Detterman, Psychologist, USA'To update Hunt's book must have been a challenging job. Roberto and Richard did so dexterously by inserting new and solid information. The result is a delightful book full of important information for those who want to learn from the best researchers in human intelligence.' Carmen Flores-Mendoza, Federal University of Minas Gerais, Brazil'Perennially, there have been too few higher-level textbooks devoted to human intelligence differences. This engagingly voiced book is commendable as clear, current, comprehensive, and cautious.' Ian Deary, University of Edinburgh, UK'An excellent textbook that will leave readers with an informed and nuanced grasp of core and emerging findings in intelligence research. Drs. Haier and Colom succeed in presenting complex topics accessibly, and in modeling the commitment to scientific-mindedness and respectful discussion that is critical to progress in understanding human intelligence.' Matthew Euler, University of Utah, USA'The Science of Human Intelligence is a superb book. It provides an authoritative review of what is known about human intelligence, from its measurement to underlying brain systems to real-world consequences. The approach is balanced and up to date and does not shy away from controversial topics. This is a highly recommended must-read for anyone interested in the facts about human intelligence, and is appropriate for undergraduate and graduate students, as well as professionals who work in related areas, and the educated public.' David Geary, University of Missouri, USA'The Science of Human Intelligence is a great book. It provides a wealth of up-to-date scientific information and a comprehensive, thoughtful, and balanced evaluation of what is known, what is not known, and what still needs to be learned about human intelligence. It also provides much food for thought for those who are willing to learn from open discussions and even from constructive confrontation of competing ideas. It will answer many questions that readers might have about intelligence. More importantly, it will help them to ask new questions that they have not yet thought of.' Yulia Kovas, Goldsmiths, University of London, UK'A towering accomplishment! Human behavior can be better understood when variation in intelligence is considered. Engagingly written and packed with constructive insights, this book should be considered a must-read for advanced undergraduates and all persons interested in how post-industrial societies are structured. I expect many of its older, open-minded readers will feel educationally cheated if unexposed to this vibrant scientific arena earlier in their lives. Throughout, the authors demonstrate how many current explanations of human behavior that neglect the vast range of individual differences in cognitive functioning are untenable. If such problems as climate change, cyber-insecurity, educational-occupational disparities, pandemics, and even finding a fulfilling life are to be addressed realistically and humanely, individual differences in cognitive functioning must be considered. This book is the field as it now stands.' David Lubinski, Vanderbilt University, USA'With their 75 years of combined research experience in the field of intelligence, no other pair of authors could have written such an authoritative and comprehensive book. It lucidly covers the theories, methods, and results of intelligence research, from the environment and training to genes and the brain throughout the life course. Clear and engaging, the book doesn't shy away from controversial issues. Highly recommended.' Robert Plomin, King's College London, UK'This book critically analyzes research on human intelligence, distinguishing between science and politics. The authors admit that much still remains to be discovered and therefore address all those aspects easily susceptible to manipulation in a balanced way. This is an important merit of this book.' Aristide Saggino, University of Chieti-Pescara, ItalyTable of ContentsList of figures; List of tables; List of boxes; Preface; Acknowledgements; 1. A brief voyage to the past; 2. Basic concepts; 3. Psychometric models of intelligence; 4. Cognitive models of intelligence and information processing; 5. Intelligence and the brain; 6. The genetic basis of intelligence; 7. Experience and intelligence; 8. Intelligence and everyday life; 9. Introduction to the scientific study of population differences; 10. Sex differences and intelligence; 11. Intelligence and aging; 12. Intelligence in the world; 13. Enhancing intelligence; 14. A final word; References; Index.

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Book SynopsisNew Clinical Genetics continues to offer the most innovative case-based approach to investigation, diagnosis, and management in genomic medicine. New Clinical Genetics is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, clinical and nurse geneticists, and students studying healthcare courses allied to medicine. Readers love the integrated case-based approach which ties the science to real-life clinical scenarios to really aid understanding. Clinical genetics is a fast-moving field and there have been many advances in the few years since the previous edition was published. This 4th edition has been completely updated and revised to reflect new science, new techniques and new ways of thinking. Nowhere is this more clear than in the chapter discussing genetics services which is now significantly expanded to reflect the increasing role of genomic medicine and the use of multidisciplinary teams in the management of patients with genetic disorders. The unique case-based structure and format remains the same, but substantial new material has been added to cover: polygenic risk scores – now starting to become useful clinical service tools preimplantation diagnosis noninvasive prenatal diagnosis companion diagnostics for prescribed drugs liquid biopsies in cancer epigenetics and gene regulation the widespread use of next-generation sequencing as a routine diagnostic tool the checking of a patient’s whole exome for the cause of their problem Trade ReviewIncredible Book with Great Teaching Capability ‘This book is incredibly well put together. The author gives both a typical textbook description of material, as well as a case-study based presentation. There are questions at the end of each chapter to help check your understanding. The only thing I don’t like is that there are no provided answers to these questions, only basic hints. However, I recognize why the author did this as it provides a better academic challenge to the reader. I didn’t even buy this for a class. I bought this to read for personal enjoyment and have not been disappointed! Especially for how cheap this is (for a textbook) this is a steal!' Amazon reviewer Table of Contents1 What can we learn from a family history? 2 How can a patient's chromosomes be studied? 3 How do genes work? 4 How can a patient's DNA be studied? 5 How can we check a patient's DNA for gene mutations? 6 What do mutations do? 7 Is cancer genetic? 8 How do researchers identify genes for mendelian diseases? 9 Why are some conditions common and others rare? 10 How do our genes affect our metabolism, drug responses and immune system? 11 How are genes regulated? 12 When is screening useful? 13 Should we be testing for genetic susceptibility to common diseases? 14 What clinical services are available for families with genetic disorders? 15 How to use linkage to map a disease gene Glossary Index Disease index

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Book SynopsisDescribed by Oliver Sacks as ''one of the best scientist-writers of our time'', Robert M. Sapolsky here presents the human animal in all its quirkiness and diversity.In these remarkable essays, Sapolsky once again deploys his compassion and insights into the human condition to tell us who, why and how we are. Monkeyluv touches on themes such as sexuality, aggression, love, parenting, religion, ageing, and mental illness. He ponders such topics as our need to seek out beauty; why our preferences in food become fixed; why we are sexually attracted to one another; why Alzheimer''s disease tends to be a post-menopausal phenomenon; and why grandmothers buying groceries for their grandchildren are part of nature''s Darwinian logic.Trade ReviewThe prose is perfectly pitched: Sapolsky writes in a jocular, entertaining style without ever pandering to the presumed ignorance of his readers. And he expresses infectious enthusiasm, especially when he is reporting on new experiments performed by colleagues in his field -- Steven Poole * Guardian *Sapolsky, who has a weakness for Martian jokes, is a bona fide boffin, but he looks beyond the lab for his case studies, assembling a cast that includes Sandra Bullock and a love-struck baboon named Jonathan. This highly readable book will both inform and enlarge your appreciation of the mystery of existence * Mail on Sunday *The author of Monkeyluv, an entertaining collection of essays about humans and animals, is also a luminary among that rare breed - the funny scientist. These essays on genetic wars between men and women, dreams, bad moods, ambiguity and stress are...a combination of Oliver Sacks and David Foster Wallace * Los Angeles Times *Sapolsky gives us these and many more intriguing gene factoids, but he also explains the elaborate nature/nurture interactions in which they are embedded...the book is a witty blend of anecdote and analysis -- Rita Carter * Daily Mail *Fascinating * Sunday Times *

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Book SynopsisTable of Contents1 Background and History 2 Basic Cell Biology: Structure and Function of Genes and Chromosomes 3 Genetic Variation: Its Origin and Detection 4 Autosomal Dominant and Recessive Inheritance 5 Sex-Linked and Nontraditional Modes of Inheritance 6 Clinical Cytogenetics: The Chromosomal Basis of Human Disease 7 Biochemical Genetics: Disorders of Metabolism 8 Disease-Gene Identification 9 Immunogenetics 10 Genetic Basis of Development 11 Cancer Genetics 12 Multifactorial Inheritance and Common Diseases 13 Genetic Testing and Gene Therapy 14 Genetics and Precision Medicine 15 Clinical Genetics and Genetic Counseling Glossary Answers to Study Questions Index 1 Background and History 2 Basic Cell Biology: Structure and Function of Genes and Chromosomes 3 Genetic Variation: Its Origin and Detection 4 Autosomal Dominant and Recessive Inheritance 5 Sex-Linked and Nontraditional Modes of Inheritance 6 Clinical Cytogenetics: The Chromosomal Basis of Human Disease 7 Biochemical Genetics: Disorders of Metabolism 8 Disease-Gene Identification 9 Immunogenetics 10 Genetic Basis of Development 11 Cancer Genetics 12 Multifactorial Inheritance and Common Diseases 13 Genetic Testing and Gene Therapy 14 Genetics and Precision Medicine 15 Clinical Genetics and Genetic Counseling Glossary Answers to Study Questions Index

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Book SynopsisA fresh and fascinating investigation into cancer and how genetics holds the key to overcoming it.Trade ReviewThis book is packed with big ideas about life. Every chapter has something in it which made me think wow. Having worked in a major cancer charity for many years, Arney writes with genuine in-depth understanding and is a perfect guide. * Daniel M. Davis, author of The Beautiful Cure *Rebel Cell is a bright, engaging read, fizzing with energy and metaphor. Kat Arney is a science writer for all of us - a powerful and talented story teller. * Stephen McGann *Kat's book is Dynamite. A crystal clear reappraisal of the story behind that word we fear to mention. * Dallas Campbell, author of Ad Astra: An Illustrated Guide to Leaving the Planet *Forget magic bullets and much hyped miracle cures, to improve the chances of cancer patients we need revolutionary new thinking. And that new thinking, Arney forcefully argues, is evolutionary. She not only places cancer in its evolutionary context but shows how understanding a cancer as an evolving entity leads to new therapeutic approaches that work. This lively, scholarly and accessible book should be essential reading. * Professor Laurence D Hurst, President of the Genetics Society *Better than just a history or scientific rundown of cancer, Kat Arney presents a philosophy for how to think about cancer. * Zach Weinersmith author of Soonish: Ten Emerging Technologies That Will Improve and/or Ruin Everything *Kat Arney does it again: taking the complex and making it easy to grasp, demystifying the mysterious, asking the right questions and finding the surprising answers - and all with rollicking good humour and bonhomie. The war on cancer would itself be far more advanced if its practitioners knew how to communicate with us and each other as well as Kat does in this mind-thrilling page turner. * Mark Stevenson, Futurist and Author of We Do Things Differently: the outsiders rebooting our world *A lively study of the Big C, which makes the case that cancer is the price we pay for our marvellously complicated bodies. * The Times *

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Book SynopsisWritten primarily for students embarking on an undergraduate bioscience degree, this primer will review the essential biological concepts that underpin any programme of more advanced study and give early-stage undergraduates the opportunity to review topics about which they may feel under-prepared or less confident.Genetic medicine has entered an era of rapid expansion. It is no longer just relevant to families affected by rare congenital disorders, but has the potential to affect the diagnosis and treatment of most common complex diseases.The successful application of new genetic science in the decades ahead will depend on the next generation of undergraduates or university applicants, who are now planning their careers as Biologists and Clinicians.This primer explores core concepts about heredity and genome analysis, illustrates current clinical practice with case-histories, and discusses the potentials and pitfalls of personalised medicine.Table of Contents1: Nucleic Acids, Genes, and Genomes 2: Mutations and Genetic Variation 3: Laboratory Techniques and the Sequencing Revolution 4: The Application of Genetic Medicine in Childhood 5: Genetic Medicine for Adult Onset Disease 6: Pharmacogenetics and Personalised Medicine

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Book SynopsisA new updated edition of the first integrated and comprehensive textbook to explain the principles of evolutionary biology from a medical perspective and to focus on how medicine and public health might utilise evolutionary biology.Trade ReviewThis volume will appeal to a broad readership of students and faculty in a variety of disciplines ... I recommend this book highly as a clear and accessible introduction to the growing field of evolution, medicine, and public health. * Robert Perlman, The Quarterly Review of Biology *Table of ContentsPART 1: FUNDAMENTALS OF EVOLUTIONARY BIOLOGY; PART 2: EVOLUTION IN HEALTH AND DISEASE

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Book SynopsisTrade Review'I find myself at a loss for how to describe this remarkable work. Just as Karl has, through his laboratory, reimagined, and literally redefined how we view the human brain, he has reimagined and redefined what literary non-fiction can be, with great elegance. For all of us who write about science for the public, this will be a tough act to follow. It's poetic, mind-stretching, and through it all, deeply human' -- Daniel Levitin'Revelatory ... it recalls the case histories of Oliver Sacks, at times the sweep of Yuval Harari's Sapiens. He writes with an evident love of words - but also, with a lucid line of scientific enquiry' -- Richard Godwin * Guardian *'There are some books that you read and forget. There are others that you read and think about occasionally. Then there are rare gems like Connections that you read, read again and find that the way you think has been irreversibly changed. Incredibly powerful' -- Sue Black, author of All That Remains'Karl Deisseroth is a master storyteller. Armed with an abundance of compassion and curiosity, he takes us on a spellbinding tour of the mysteries of the human mind through a series of fascinating case studies. His graceful prose weaves a tapestry of complex ideas into memorable stories, each illuminated by cutting-edge science. A delight from the opening paragraph to the stunning conclusion, this book is an invitation to reverence for the complexity of the human brain and its relationship to the mind: a ticket to a state of wonder at the essence of our selves' -- Kathryn Mannix, author of With the End in Mind'Deisseroth is a talented writer ... It is in his encounters with distressed patients that his talent for marrying science and the imagination becomes most apparent and that his writing comes truly alive. Connections warrants comparison with books such as Do No Harm by Henry Marsh and Brainstorm by Suzanne Sullivan . . . Deisseroth achieves the difficult feat of moving and enlightening the reader at the same time ... [this is] a book that is beautiful to read and packed with cutting edge science' -- Mark Honigsbaum * Observer *'This hybrid memoir, by an emergency-room psychiatrist and professor of psychiatry and bioengineering, probes the evolutionary origins of human emotions' * New Yorker *'Essential...tinged with a profound humility built over years of interactions with patients... this is big' * Psychology Today *'Deisseroth is a genuine pioneer, whose prize-winning research is re-defining our understanding of the brain... a stunning work from a relatively young man set on revealing the threads connecting our most pressing personal concerns with our timeless biological inheritance... Deisseroth has the imagination and literary gift to make it speak to all of us' * Literary Review *'Karl Deisseroth's imaginative narrative flows effortlessly... There is a first love of reading and writing and hints of a literary imagination that draws on James Joyce and Toni Morrison... Deisseroth endeavors to find an emotive language for the psychiatric patients he meets. He accomplishes this by weaving together... psychiatric knowledge, technology, and imagination. These together free him to write poetically... His narratives are always sensitive... an admixture of fact and fiction, reality and imagination, damage and desire' * Science *'[Deisseroth's] scintillating and moving analysis of the human brain and emotions, based on observations of his patients, proves he is not exaggerating. It is also a great read' * Nature *'I've known Karl as a colleague, a scientist whose discoveries in the lab have been breathtaking and revolutionary. Maybe I shouldn't be surprised to discover he's also a stunning writer, his words guiding us to a profound understanding of the nature of human emotions, seamlessly invoking Ovid and optogenetics, Borges and basal ganglia as he takes on this journey. Projections is a tour de force' -- Abraham Verghese, author of Cutting for Stone'Karl Deisseroth intertwines neuroscience and human stories in a way that is altogether new: technical, lyrical, and deeply compassionate all at once. Through sharing what he's learned as a groundbreaking scientist and a psychiatrist caring for patients with severe illness, he reveals glimmer of what makes us human. This is a crucial book for anyone who loves science, anyone who loves someone suffering from a disorder of the brain, or anyone who, like so many of us, loves both' -- Lucy Kalanithi'The writing in this exploration of what causes human emotion at a cellular level is extraordinarily good, inviting comparisons with the work of Oliver Sacks and Henry Marsh' (Editor's Choice) * Bookseller *'Deisseroth, professor of psychiatry at Stanford University, melds the personal with the clinical in his masterful debut on how the human mind works and what can be learned when it goes awry ... writing with abundant empathy, Deisseroth brings his patients' struggles to life as he educates about both neuroscience and humanity. This is a must-read' * Publishers Weekly *'Unique and utterly riveting, Projections braids together three skeins from Karl Deisseroth's life: his painstaking clinical experience as a psychiatrist, dedicated to helping patients; his ingenious inventions in biotechnology that have ushered in waves of new insights into how brains work; and his life as a humble and caring social human being with a gift for crafting a spellbinding chronicle. This is a masterpiece written for each and every one of us' -- Patricia Churchland, author of Conscience'Karl Deisseroth is already known around the world as a groundbreaking scientist who has pioneered dazzling new techniques for investigating the brain. In this enthralling masterpiece of a book, he demonstrates that he is also a perceptive psychiatrist, as well as a spellbinding writer who beautifully connects the inner feelings within all human beings to deep insights from modern psychiatry and neuroscience' -- Robert Lefkowitz, Nobel Laureate and author of A Funny Thing Happened on the Way to Stockholm'We are living during a revolution in our understanding of the human brain, and Karl Deisseroth has been at the forefront of these advances. This magisterial work shows that not only is he one of our leading scientists, but also a gifted writer and storyteller. With precise yet luminous prose, he merges stories of cutting-edge neuroscience with a deep reverence for his patients' humanity' -- Neil Shubin, author of Some Assembly Required'Deisseroth writes of heartbreaking and desperate medical cases with a doctor's knowledge, and a novelist's skill for narrative. I could not put this book down' -- May-Britt Moser, Nobel Laureate

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Book SynopsisTable of ContentsCHAPTER 1 Introduction CHAPTER 2 Introduction to the Human Genome CHAPTER 3 The Human Genome: Gene Structure and Function CHAPTER 4 Human Genetic Diversity: Genomic Variation CHAPTER 5 Principles of Clinical Cytogenetics and Genome Analysis CHAPTER 6 The Chromosomal and Genomic Basis of Disease: Disorders of the Autosomes and Sex Chromosomes CHAPTER 7 Patterns of Single-Gene Inheritance CHAPTER 8 Principles of Clinical Epigenetics CHAPTER 9 Complex Inheritance of Common Multifactorial Disorders CHAPTER 10 Population Genetics for Genomic Medicine CHAPTER 11 Identifying the Genetic Basis for Human Disease CHAPTER 12 The Molecular Basis of Genetic Disease CHAPTER 13 The Molecular, Biochemical, and Cellular Basis of Genetic Disease CHAPTER 14 The Treatment of Genetic Disease CHAPTER 15 Developmental Genetics and Birth Defects CHAPTER 16 Cancer Genetics and Genomics CHAPTER 17 Genetic Counseling and Risk Assessment CHAPTER 18 Preconception and Prenatal Screening and Diagnosis CHAPTER 19 Application of Genomics to Medicine and Individualized Health Care CHAPTER 20 Ethical and Social Issues in Genetics and Genomics Clinical Case Studies Illustrating Genetic Principles Glossary Answers to Problems Index

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Book SynopsisGoodbye, genetic blueprint. . . . The first book for general readers on the game-changing field of epigenetics.Trade Review"Epigenetics explains all this in clear, no-nonsense prose. . . . One particularly excellent chapter explains epigenetic change through the body of steroid-addled baseball player José Canseco, from his brain to his testicles." -- Josh Rothman - Boston Globe"Francis’s primer introduces a new field. It’s a thorough guide to the many ways in which personality and health can play out through our genes but not be coded for in DNA." -- Christine Kenneally - Slate

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Book SynopsisDid the human race almost go extinct? Can genetics explain a cat lady''s love for felines? How does DNA lead to people with no fingerprints or humans born with tails? And how did the right combination of genes create the exceptionally flexible thumbs and fingers of a truly singular violinist?Unravelling the genetic code hasn''t always been easy - from its earliest days, genetics has been rife with infighting, backstabbing and controversial theories - but scientists can now finally read the astounding stories inscribed in our DNA. As we make advances into DNA mapping and modification, genetics will continue to be the hottest topic in science, shaping the very make-up of our bodies and the world around us.With the same masterful combination of science, history and culture he brought to The Disappearing Spoon, Sam Kean untangles the secrets of our genetic code, explaining how genetics has shaped our past and how DNA will determine humankind''s future.Trade ReviewSummer’s must-read non-fiction book * Huffington Post *The Violinist's Thumb is one of the Ten Books to Look Out for in 2012 * New Scientist *A fast-paced, breezy romp through history using DNA as a unifying theme... it’s nerd-vana * New Scientist *Explored in his Bryson-esque style, [The Violinist's Thumb] provokes fascinating stuff, full of oddball stories and amazing facts. Kean's book is full of wonderfully weird anecdotes, but it's also an accessible history of the discovery and mapping of DNA... compellingly entertaining * Daily Mail *Sam Kean is the best science teacher you never had * Entertainment Weekly *

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Book SynopsisThis book provides a comprehensive foundation for the contemporary application of pharmacokinetics and pharmacodynamics. The second edition updates and strengthens existing chapters and adds new topics to address current needs including physiologically based pharmacokinetic modeling, pharmacogenomics and predicting drug-drug interactions.Table of ContentsPreface xix Contributors xxi 1 Introduction to Pharmacokinetics and Pharmacodynamics 1Sara E. Rosenbaum 1.1 Introduction: Drugs and Doses 2 1.2 Introduction to Pharmacodynamics 3 1.2.1 Drug Effects at the Site of Action 3 1.2.2 Agonists, Antagonists, and Concentration–Response Relationships 6 1.3 Introduction to Pharmacokinetics 9 1.3.1 Plasma Concentration of Drugs 9 1.3.2 Processes in Pharmacokinetics 11 1.4 Dose–Response Relationships 12 1.5 Therapeutic Range 14 1.5.1 Determination of the Therapeutic Range 15 1.6 Summary 18 Reference 18 2 Passage of Drugs Through Membranes 19Sara E. Rosenbaum 2.1 Introduction 20 2.2 Structure and Properties of Membranes 20 2.3 Passive Diffusion 21 2.3.1 Transcellular Passive Diffusion 23 2.3.2 Paracellular Passive Diffusion 25 2.4 Carrier-Mediated Processes: Transport Proteins 26 2.4.1 Uptake Transporters: SLC Superfamily 27 2.4.2 Efflux Transporters: ABC Superfamily 29 2.4.3 Characteristics of Transporter Systems 31 2.4.4 Simulation Exercise 32 2.4.5 Clinical Examples of Transporter Involvement in Drug Response 32 References 33 3 Drug Administration and Drug Absorption 35Steven C. Sutton 3.1 Introduction: Local and Systemic Drug Administration 36 3.2 Routes of Drug Administration 37 3.2.1 Common Routes of Local Drug Administration 37 3.2.2 Common Routes of Systemic Drug Administration 38 3.3 Overview of Oral Absorption 41 3.3.1 Anatomy and Physiology of the Oral-Gastric-Intestinal Tract and Transit Time 41 3.4 Extent of Drug Absorption 44 3.4.1 Bioavailability Factor 44 3.4.2 Individual Bioavailability Factors 45 3.5 Determinants of the Fraction of the Dose Absorbed (F) 46 3.5.1 Disintegration 46 3.5.2 Dissolution 46 3.5.3 Formulation Excipients 50 3.5.4 Adverse Events within the Gastrointestinal Lumen 50 3.5.5 Transcellular Passive Diffusion 53 3.5.6 Particulate Uptake 53 3.5.7 Paracellular Passive Diffusion 53 3.5.8 Uptake and Efflux Transporters 54 3.5.9 Presystemic Intestinal Metabolism or Extraction 58 3.5.10 Presystemic Hepatic Metabolism or Extraction 60 3.6 Factors Controlling the Rate of Drug Absorption 61 3.6.1 Dissolution-Controlled Absorption 63 3.6.2 Membrane Penetration-Controlled Absorption 63 3.6.3 Overall Rate of Drug Absorption 63 3.7 Biopharmaceutics Classification System 64 3.7.1 Intestinal Reserve Length 64 3.7.2 Biopharmaceutics Classification System (BCS) 64 3.7.3 Biopharmaceutics Drug Disposition Classification System (BDDCS) 65 3.8 Food Effects 65 Problems 66 References 67 4 Drug Distribution 71Sara E. Rosenbaum 4.1 Introduction 72 4.2 Extent of Drug Distribution 72 4.2.1 Distribution Volumes 74 4.2.2 Tissue Binding Plasma Protein Binding and Partitioning: Concentrating Effects 75 4.2.3 Assessment of the Extent of Drug Distribution: Apparent Volume of Distribution 76 4.2.4 Plasma Protein Binding 82 4.3 Rate of Drug Distribution 89 4.3.1 Perfusion-Controlled Drug Distribution 90 4.3.2 Diffusion or Permeability-Controlled Drug Distribution 93 4.4 Distribution of Drugs to the Central Nervous System 93 Problems 96 References 98 5 Drug Elimination and Clearance 99Sara E. Rosenbaum 5.1 Introduction 100 5.1.1 First-Order Elimination 101 5.1.2 Determinants of the Elimination Rate Constant and the Half-Life 102 5.2 Clearance 102 5.2.1 Definition and Determinants of Clearance 102 5.2.2 Total Clearance, Renal Clearance, and Hepatic Clearance 104 5.2.3 Relationships among Clearance, Volume of Distribution, Elimination Rate Constant, and Half-Life 105 5.2.4 Primary and Secondary Parameters 106 5.2.5 Measurement of Total Body Clearance 106 5.3 Renal Clearance 108 5.3.1 Glomerular Filtration 109 5.3.2 Tubular Secretion 110 5.3.3 Tubular Reabsorption 113 5.3.4 Putting Meaning into the Value of Renal Clearance 114 5.3.5 Measurement of Renal Clearance 115 5.3.6 Fraction of the Dose Excreted Unchanged 118 5.4 Hepatic Elimination and Clearance 119 5.4.1 Phase I and Phase II Metabolism 120 5.4.2 The Cytochrome P450 Enzyme System 121 5.4.3 Glucuronidation 122 5.4.4 Metabolism-Based Drug–Drug Interactions 122 5.4.5 Hepatic Drug Transporters and Drug–Drug Interactions 125 5.4.6 Kinetics of Drug Metabolism 127 5.4.7 Hepatic Clearance and Related Parameters 128 Problems 139 References 142 6 Compartmental Models in Pharmacokinetics 145Sara E. Rosenbaum 6.1 Introduction 146 6.2 Expressions for Component Parts of the Dose–Plasma Concentration Relationship 146 6.2.1 Effective Dose 146 6.2.2 Rate of Drug Absorption 147 6.2.3 Rate of Drug Elimination 148 6.2.4 Rate of Drug Distribution 148 6.3 Putting Everything Together: Compartments and Models 149 6.3.1 One-Compartment Model 149 6.3.2 Two-Compartment Model 150 6.3.3 Three-Compartment Model 150 6.4 Examples of Complete Compartment Models 152 6.4.1 Intravenous Bolus Injection in a One-Compartment Model with First-Order Elimination 152 6.4.2 Intravenous Bolus Injection in a Two-Compartment Model with First-Order Elimination 153 6.4.3 First-Order Absorption in a Two-Compartment Model with First-Order Elimination 154 6.5 Use of Compartmental Models to Study Metabolite Pharmacokinetics 155 6.6 Selecting and Applying Models 156 Problems 157 Suggested Readings 157 7 Pharmacokinetics of an Intravenous Bolus Injection in a One-Compartment Model 159Sara E. Rosenbaum 7.1 Introduction 160 7.2 One-Compartment Model 160 7.3 Pharmacokinetic Equations 162 7.3.1 Basic Equation 162 7.3.2 Half-Life 163 7.3.3 Time to Eliminate a Dose 163 7.4 Simulation Exercise 163 7.5 Application of the Model 165 7.5.1 Predicting Plasma Concentrations 165 7.5.2 Duration of Action 166 7.5.3 Value of a Dose to Give a Desired Initial Plasma Concentration 167 7.5.4 Intravenous Loading Dose 167 7.6 Determination of Pharmacokinetic Parameters Experimentally 168 7.6.1 Study Design for the Determination of Parameters 168 7.6.2 Pharmacokinetic Analysis 169 7.7 Pharmacokinetic Analysis in Clinical Practice 173 Problems 174 Suggested Reading 176 8 Pharmacokinetics of an Intravenous Bolus Injection in a Two-Compartment Model 177Sara E. Rosenbaum 8.1 Introduction 178 8.2 Tissue and Compartmental Distribution of a Drug 179 8.2.1 Drug Distribution to the Tissues 179 8.2.2 Compartmental Distribution of a Drug 180 8.3 Basic Equation 181 8.3.1 Distribution: A, α, and the Distribution t1/2 182 8.3.2 Elimination: B, β, and the β t1/2 182 8.4 Relationship Between Macro and Micro Rate Constants 183 8.5 Primary Pharmacokinetic Parameters 183 8.5.1 Clearance 184 8.5.2 Distribution Clearance 184 8.5.3 Volume of Distribution 186 8.6 Simulation Exercise 188 8.7 Determination of the Pharmacokinetic Parameters of the Two-Compartment Model 191 8.7.1 Determination of Intercepts and Macro Rate Constants 191 8.7.2 Determination of the Micro Rate Constants: k12 k21 and k10 193 8.7.3 Determination of the Primary Pharmacokinetic Parameters 193 8.8 Clinical Application of the Two-Compartment Model 194 8.8.1 Measurement of the Elimination Half-Life in the Postdistribution Phase 194 8.8.2 Determination of the Loading Dose 195 8.8.3 Evaluation of a Dose: Monitoring Plasma Concentrations and Patient Response 197 Problems 197 Suggested Readings 199 9 Pharmacokinetics of Extravascular Drug Administration 201Dr. Steven C. Sutton 9.1 Introduction 202 9.2 First-Order Absorption in a One-Compartment Model 203 9.2.1 Model and Equations 203 9.2.2 Parameter Determination 205 9.2.3 Absorption Lag Time 210 9.2.4 Flip-Flop Model and Sustained-Release Preparations 212 9.2.5 Determinants of Tmax and Cmax 212 9.3 Modified Release and Gastric Retention Formulations 214 9.3.1 Impact of the Stomach 214 9.3.2 Moisture in the Gastrointestinal Tract 215 9.4 Bioavailability 215 9.4.1 Bioavailability Parameters 215 9.4.2 Absolute Bioavailability 217 9.4.3 Relative Bioavailability 217 9.4.4 Bioequivalence 217 9.4.5 Single-Dose Crossover Parallel and Steady-State Study Designs 219 9.4.6 Example Bioavailability Analysis 219 9.5 In Vitro-In Vivo Correlation 219 9.5.1 Definitions 219 9.5.2 Assumptions 220 9.5.3 Utility 220 9.5.4 Immediate Release IVIVC 220 9.5.5 Modified Release IVIVC 221 9.6 Simulation Exercise 222 Problems 223 References 224 10 Introduction to Noncompartmental Analysis 225Sara E. Rosenbaum 10.1 Introduction 225 10.2 Mean Residence Time 226 10.3 Determination of Other Important Pharmacokinetic Parameters 229 10.4 Different Routes of Administration 231 10.5 Application of Noncompartmental Analysis to Clinical Studies 232 Problems 234 11 Pharmacokinetics of Intravenous Infusion in a One-Compartment Model 237Sara E. Rosenbaum 11.1 Introduction 238 11.2 Model and Equations 239 11.2.1 Basic Equation 239 11.2.2 Application of the Basic Equation 241 11.2.3 Simulation Exercise: Part 1 241 11.3 Steady-State Plasma Concentration 242 11.3.1 Equation for Steady-State Plasma Concentrations 242 11.3.2 Application of the Equation 242 11.3.3 Basic Formula Revisited 243 11.3.4 Factors Controlling Steady-State Plasma Concentration 243 11.3.5 Time to Steady State 244 11.3.6 Simulation Exercise: Part 2 245 11.4 Loading Dose 246 11.4.1 Loading-Dose Equation 246 11.4.2 Simulation Exercise: Part 3 248 11.5 Termination of Infusion 248 11.5.1 Equations for Termination Before and After Steady State 248 11.5.2 Simulation Exercise: Part 4 249 11.6 Individualization of Dosing Regimens 249 11.6.1 Initial Doses 249 11.6.2 Monitoring and Individualizing Therapy 250 Problems 252 12 Multiple Intravenous Bolus Injections in the One-Compartment Model 255Sara E. Rosenbaum 12.1 Introduction 256 12.2 Terms and Symbols Used in Multiple-Dosing Equations 257 12.3 Monoexponential Decay During a Dosing Interval 259 12.3.1 Calculation of Dosing Interval to Give Specific Steady-State Peaks and Troughs 260 12.4 Basic Pharmacokinetic Equations for Multiple Doses 260 12.4.1 Principle of Superposition 260 12.4.2 Equations that Apply Before Steady State 261 12.5 Steady State 262 12.5.1 Steady-State Equations 263 12.5.2 Average Plasma Concentration at Steady State 264 12.5.3 Fluctuation 267 12.5.4 Accumulation 267 12.5.5 Time to Reach Steady State 269 12.5.6 Loading Dose 270 12.6 Basic Formula Revisited 270 12.7 Pharmacokinetic-Guided Dosing Regimen Design 270 12.7.1 General Considerations for Selection of the Dosing Interval 270 12.7.2 Protocols for Pharmacokinetic-Guided Dosing Regimens 272 12.8 Simulation Exercise 276 Problems 277 Reference 278 13 Multiple Intermittent Infusions 279Sara E. Rosenbaum 13.1 Introduction 279 13.2 Steady-State Equations for Multiple Intermittent Infusions 281 13.3 Monoexponential Decay During a Dosing Interval: Determination of Peaks Troughs and Elimination Half-Life 284 13.3.1 Determination of Half-Life 284 13.3.2 Determination of Peaks and Troughs 286 13.4 Determination of the Volume of Distribution 286 13.5 Individualization of Dosing Regimens 289 13.6 Simulation 289 Problems 290 14 Multiple Oral Doses 293Sara E. Rosenbaum 14.1 Introduction 293 14.2 Steady-State Equations 294 14.2.1 Time to Peak Steady-State Plasma Concentration 295 14.2.2 Maximum Steady-State Plasma Concentration 296 14.2.3 Minimum Steady-State Plasma Concentration 296 14.2.4 Average Steady-State Plasma Concentration 296 14.2.5 Overall Effect of Absorption Parameters on a Steady-State Dosing Interval 297 14.3 Equations Used Clinically to Individualize Oral Doses 298 14.3.1 Protocol to Select an Appropriate Equation 298 14.4 Simulation Exercise 300 References 301 15 Nonlinear Pharmacokinetics 303Sara E. Rosenbaum 15.1 Linear Pharmacokinetics 304 15.2 Nonlinear Processes in Absorption, Distribution, Metabolism, and Elimination 306 15.3 Pharmacokinetics of Capacity-Limited Metabolism 307 15.3.1 Kinetics of Enzymatic Processes 307 15.3.2 Plasma Concentration–Time Profile 309 15.4 Phenytoin 310 15.4.1 Basic Equation for Steady State 311 15.4.2 Estimation of Doses and Plasma Concentrations 313 15.4.3 Influence of Km and Vmax and Factors That Affect These Parameters 314 15.4.4 Time to Eliminate the Drug 316 15.4.5 Time to Reach Steady State 317 15.4.6 Individualization of Doses of Phenytoin 318 Problems 321 References 322 16 Introduction to Pharmacogenetics 323Dr. Daniel Brazeau 16.1 Introduction 324 16.2 Genetics Primer 324 16.2.1 Basic Terminology: Genes Alleles Loci and Polymorphism 324 16.2.2 Population Genetics: Allele and Genotype Frequencies 326 16.2.3 Quantitative Genetics and Complex Traits 327 16.3 Pharmacogenetics 328 16.3.1 Pharmacogenetics of Drug-Metabolizing Enzymes 330 16.3.2 Pharmacogenetics of Drug Transporters 333 16.4 Genetics and Pharmacodynamics 334 16.4.1 Drug Target Pharmacogenetics 334 16.5 Summary 335 Reference 335 Suggested Readings 335 17 Models Used to Predict Drug–Drug Interactions for Orally Administered Drugs 337Sara E. Rosenbaum 17.1 Introduction 338 17.2 Mathematical Models for Inhibitors and Inducers of Drug Metabolism Based on In Vitro Data 340 17.2.1 Reversible Inhibition 340 17.2.2 Time-Dependent Inhibition 341 17.2.3 Induction 345 17.3 Surrogate In Vivo Values for the Unbound Concentration of the Perpetrator at the Site of Action 345 17.3.1 Surrogate Measures of Hepatic Inhibitor and Inducer Concentrations 346 17.3.2 Surrogate Measures of Intestinal Inhibitor and Inducer Concentrations 346 17.4 Models Used to Predict DDIs In Vivo 347 17.4.1 Introduction 347 17.4.2 Basic Predictive Models: R Values 348 17.4.3 Predictive Models Incorporating Parallel Pathways of Elimination (fm) 350 17.4.4 Models Incorporating Intestinal Extraction 354 17.4.5 Models Combining Multiple Actions of Perpetrators 358 17.5 Predictive Models for Transporter-Based DDIs 359 17.5.1 Kinetics of Drug Transporters 359 17.6 Application of Physiologically Based Pharmacokinetic Models to DDI Prediction: The Dynamic Approach 362 17.7 Conclusion 362 Problems 363 References 364 18 Introduction to Physiologically Based Pharmacokinetic Modeling 367Sara E. Rosenbaum 18.1 Introduction 368 18.2 Components of PBPK Models 369 18.3 Equations for PBPK Models 369 18.4 Building a PBPK Model 373 18.5 Simulations 377 18.6 Estimation of Human Drug-Specific Parameters 378 18.6.1 Tissue Plasma Partition Coefficient 379 18.6.2 Volume of Distribution 379 18.6.3 Clearance 380 18.7 More Detailed PBPK Models 381 18.7.1 Permeability-Limited Distribution 381 18.7.2 Drug Transporters 383 18.7.3 Models for Oral Absorption 386 18.7.4 Reduced Models 387 18.8 Application of PBPK Models 387 References 388 19 Introduction to Pharmacodynamic Models and Integrated Pharmacokinetic–Pharmacodynamic Models 391Drs. Diane Mould and Paul Hutson 19.1 Introduction 392 19.2 Classic Pharmacodynamic Models Based on Receptor Theory 393 19.2.1 Receptor Binding 394 19.2.2 Concentration-Response Models 395 19.3 Direct Effect Pharmacodynamic Models 402 19.3.1 Emax and Sigmoidal Emax Models 402 19.3.2 Inhibitory Imax and Sigmoidal Imax Models 404 19.3.3 Linear Adaptations of the Emax and Imax Model 404 19.4 Integrated PK–PD Models: Intravenous Bolus Injection in the One-Compartment Model and the Sigmoidal Emax Model 406 19.4.1 Simulation Exercise 409 19.5 Pharmacodynamic Drug–Drug Interactions 410 19.5.1 Simulation Exercise 410 Problems 411 References 412 20 Semimechanistic Pharmacokinetic–Pharmacodynamic Models 413Drs. Diane Mould and Paul Hutson 20.1 Introduction 414 20.2 Hysteresis and the Effect Compartment 416 20.2.1 Simulation Exercise 419 20.3 Physiological Turnover Models and Their Characteristics 419 20.3.1 Points of Drug Action 421 20.3.2 System Recovery After Change in Baseline Value 421 20.4 Indirect Effect Models 422 20.4.1 Introduction 422 20.4.2 Characteristics of Indirect Effect Drug Responses 424 20.4.3 Characteristics of Indirect Effect Models Illustrated Using Model I 426 20.5 Other Indirect Effect Models 432 20.5.1 Transit Compartment Models 435 20.5.2 Model for Hematological Toxicity of Anticancer Drugs 439 20.5.3 Alternate Parameterizations of Transit Models 442 20.6 Models of Tolerance 442 20.6.1 Introduction to Pharmacologic Tolerance 442 20.6.2 Counter-Regulatory Force Tolerance Model 444 20.6.3 Precursor Pool Model of Tolerance 447 20.7 Irreversible Drug Effects 450 20.7.1 Application of the Turnover Model to Irreversible Drug Action 450 20.8 Disease Progression Models 452 20.8.1 Drug Pharmacokinetics 452 20.8.2 Pharmacodynamics 452 20.8.3 Disease Activity Models 453 20.8.4 Disease Progression Models 453 Problems 459 References 465 Appendix A Review of Exponents and Logarithms 469Sara E. Rosenbaum A.1 Exponents 469 A.2 Logarithms: Log and Ln 470 A.3 Performing Calculations in the Logarithmic Domain 471 A.3.1 Multiplication 471 A.3.2 Division 472 A.3.3 Reciprocals 472 A.3.4 Exponents 472 A.4 Calculations Using Exponential Expressions and Logarithms 472 A.5 Decay Function: e−kt 474 A.6 Growth Function: 1 − e−kt 475 A.7 Decay Function in Pharmacokinetics 475 Problems 476 Appendix B Rates of Processes 479Sara E. Rosenbaum B.1 Introduction 479 B.2 Order of a Rate Process 480 B.3 Zero-Order Processes 480 B.3.1 Equation for Zero-Order Filling 480 B.3.2 Equation for Zero-Order Emptying 481 B.3.3 Time for Zero-Order Emptying to Go to 50% Completion 481 B.4 First-Order Processes 482 B.4.1 Equation for a First-Order Process 482 B.4.2 Time for 50% Completion: the Half-Life 483 B.5 Comparison of Zero- and First-Order Processes 484 B.6 Detailed Example of First-Order Decay in Pharmacokinetics 484 B.6.1 Equations and Semilogarithmic Plots 484 B.6.2 Half-Life 485 B.6.3 Fraction or Percent Completion of a First-Order Process Using First-Order Elimination as an Example 485 B.7 Examples of the Application of First-Order Kinetics to Pharmacokinetics 487 Appendix C Creation of Excel Worksheets for Pharmacokinetic Analysis 489Sara E. Rosenbaum C.1 Measurement of AUC and Clearance 489 C.1.1 Trapezoidal Rule 490 C.1.2 Excel Spreadsheet to Determine AUC0→∞ and Clearance 491 C.2 Analysis of Data from an Intravenous Bolus Injection in a One-Compartment Model 494 C.3 Analysis of Data from an Intravenous Bolus Injection in a Two-Compartment Model 496 C.4 Analysis of Oral Data in a One-Compartment Model 498 C.5 Noncompartmental Analysis of Oral Data 501 Appendix D Derivation of Equations for Multiple Intravenous Bolus Injections 505Sara E. Rosenbaum D.1 Assumptions 505 D.2 Basic Equation for Plasma Concentration After Multiple Intravenous Bolus Injections 505 D.3 Steady-State Equations 508 Appendix E Enzyme Kinetics: Michaelis–Menten Equation and Models for Inhibitors and Inducers of Drug Metabolism 509Sara E. Rosenbaum and Roberta S. King E.1 Kinetics of Drug Metabolism: The Michaelis–Menten Model 510 E.1.1 Overview 510 E.1.2 Assumptions for Validity of Michaelis–Menten Model 510 E.1.3 Km and Vmax 511 E.1.4 Derivation of the Michaelis–Menten Equation 511 E.1.5 Summary, Practical Considerations, and Interpretations 513 E.1.6 Relationship Between Intrinsic Clearance and the Michaelis–Menten Parameters 514 E.2 Effect of Perpetrators of DDI on Enzyme Kinetics and Intrinsic Clearance 515 E.2.1 Reversible Inhibition 515 E.2.2 Time-Dependent Inhibition 518 E.2.3 Enzyme Induction 524 References 526 Appendix F Summary of the Properties of the Fictitious Drugs Used in the Text 527Sara E. Rosenbaum Appendix G Computer Simulation Models 529Sara E. Rosenbaum Glossary of Terms 531 Index 537

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Book SynopsisAdopted at Cambridge University Essential Medical Genetics provides students, clinicians, counsellors and scientists with the up-to-date information they need regarding the basic principles underlying medical genetics. It also provides guidance on how to apply current knowledge in clinical contexts, covering a wide variety of topics: from genome structure and function to mutations, screening and risk assessment for inherited disorders. This sixth edition has been substantially updated to include, for instance, the latest information on the Human Genome Project as well as several new molecular genetic and chromosome analysis techniques.In full colour throughout, it includes a number of brand new features, including: a large number of self-assessment questions; ''Essentials'' chapter summaries; further reading suggestions; and case study scenarios introducing clinical situations. An invaluable new section gives illustrated practical advice regarding Trade Review“Essential Medical Genetics is the perfect resource for a course on medical genetics, and is now accompanied by a regularly updated website and the FREE enhanced Wiley Desktop Edition (upon purchase of the book) .” (MedReport, 9 October 2012) “I have watched this textbook from its first inception and was disappointed that there was no new edition for so many years. Having waited, the result now is excellent and it has overcome my preference for Emery's Elements as a basic human genetics text.” Emeritus Professor in Clinical Genetics "I find the reference to electronic resources particularly useful, especially for people who approach clinical genetics for the first time and are not familiar with these tools." Dr Sixto García-Miñaúr, Imperial College London, and Hospital Universitario La Paz, Madrid, Spain Reviews of the previous edition "This book is an easy to read, well illustrated introduction to medical genetics. It deals nicely with all the classical aspects of the subject..." Black Bag, Medical Students' Society of Bristol University "...a justifiably popular introductory text." The British Medical JournalTable of ContentsPreface vii Acknowledgements ix How to get the best out of your textbook x Part 1: Basic principles 1 1 Medical genetics in perspective 3 Scientific basis of medical genetics 5 Clinical applications of medical genetics 9 2 The human genome 13 Structure and organisation of the genome 14 Gene identification 14 Th e Human Genome Project 14 3 Nucleic acid structure and function 23 Nucleic acid structure 24 Nucleic acid function 26 Gene regulation 29 DNA replication 31 Mutation types, eff ects and nomenclature 32 4 DNA analysis 41 Basic methods 42 Mutation detection 43 Indirect mutant gene tracking 52 Analysis of DNA length polymorphisms 53 Analysis of single-nucleotide polymorphisms 54 5 Chromosomes 57 Chromosome structure 58 Chromosome analysis 59 Chromosome heteromorphisms 65 Chromosomes in other species 66 Mitochondrial chromosomes 68 Mitosis 69 6 Gametogenesis 73 Meiosis 74 Spermatogenesis 76 Oogenesis 78 Fertilisation 78 X-inactivation and dosage compensation 79 Sex chromosome aberrations 80 Sex determination and differentiation 83 Genomic imprinting (parental imprinting) 83 7 Chromosome aberrations 89 Numerical aberrations 90 Structural aberrations 92 Cytogenetic and molecular methods for the detection of chromosomal aberrations 100 Identification of the chromosomal origin of complex structural rearrangements 107 Other aberrations 111 8 Typical Mendelian inheritance 117 Introduction to autosomal single-gene inheritance 118 Autosomal dominant inheritance 118 Autosomal recessive inheritance 120 Introduction to sex-linked inheritance 123 X-linked recessive inheritance 125 X-linked dominant inheritance 127 Y-linked inheritance (holandric inheritance) 128 9 Atypical Mendelian inheritance 131 Genetic anticipation 132 Pseudoautosomal inheritance 134 Autosomal dominant inheritance with sex limitation 134 Pseudodominant inheritance 134 X-linked dominant inheritance with male lethality 135 Mosaicism 135 Modifi er genes and digenic inheritance 135 Uniparental disomy 136 Imprinting disorders 136 10 Non-Mendelian inheritance 141 Multifactorial disorders 142 Somatic cell genetic disorders 147 Mitochondrial disorders 147 11 Medical genetics in populations 151 Selection for single-gene disorders 152 Founder effect and genetic drift for single-gene disorders 153 Altered mutation rate for single-gene disorders 154 Linkage analysis and the International Hapmap Project 154 Human population evolution and migration 155 Part 2: Clinical applications 161 12 Genetic assessment, genetic counselling and reproductive options 163 Communication of advice 164 Special points in counselling 168 Prenatal diagnosis 170 Amniocentesis 170 Chorionic villus sampling 174 Cordocentesis, fetal skin biopsy and fetal liver biopsy 175 Ultrasonography 175 Fetal cells in the maternal circulation 175 Free fetal DNA and RNA detection 175 Preimplantation genetic diagnosis 176 13 Family history of cancer 179 General principles 180 Tumour suppressor genes 181 Genes involved in DNA repair mechanisms 187 Oncogenes 187 Other cancer-related genes 189 Genetic counselling aspects of cancer 189 Common familial cancer predisposition syndromes 189 14 Family history of common adult-onset disorder 199 General principles 200 Diabetes mellitus: common and monogenic forms 200 Dementia: Alzheimer disease, Huntington disease, prion diseases and other causes 202 15 Strong family history – typical Mendelian disease 209 Cystic fibrosis 210 Duchenne and Becker muscular dystrophies 212 Neurofi bromatosis type 1 214 16 Strong family history – other inheritance mechanisms 219 Myotonic dystrophy 220 Fragile X syndrome 221 Mitochondrial disorder 222 Imprinting-related disorder 223 Chromosomal translocation 224 17 Screening for disease and for carriers 229 Prenatal screening 230 Neonatal screening 233 Carrier detection in the adult population 234 Presymptomatic screening of adults 237 18 Family history of one or more congenital malformations 241 Aetiology 242 Chromosomal disorders 243 Neural tube defects 247 Teratogenic eff ects 250 Multiple malformation syndromes 253 Part 3: Electronic databases – a user's guide 265 19 Electronic databases – a user's guide 267 Finding information regarding specifi c conditions and names of associated genes 268 Laboratories undertaking genetic testing 270 Patient information and support groups 270 Gene- and protein-specifi c sequence, structure, function and expression information 272 Nucleotide sequences and human mutations 281 Automatic primer design tools 281 Displaying map data for genes and markers 287 Online missense mutation analysis tools 288 Computer-aided syndrome diagnosis 293 Professional genetics societies 297 Th e Human Genome Project: ethics and education 297 Self-assessment – answers 305 Appendix 1: Odds, probabilities and applications of Bayes’ theorem 312 Appendix 2: Calculation of the coeffi cients of relationship and inbreeding 314 Appendix 3: Population genetics of single-gene disorders 315 Appendix 4: Legal aspects 317 Glossary 318 Index 324

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Book SynopsisRecommended by Bill Gates and included in GatesNotes "Elaborating on the science as well as the business behind the fight against cystic fibrosis, Trivedi captures the emotions of the families, doctors, and scientists involved in the clinical trials and their 'weeping with joy' as new drugs are approved, and shows how cystic fibrosis, once a 'death sentence,' became, for many, a manageable condition. This is a rewarding and challenging work." —Publishers Weekly Cystic fibrosis was once a mysterious disease that killed infants and children. Now it could be the key to healing millions with genetic diseases of every type—from Alzheimer's and Parkinson's to diabetes and sickle cell anemia. In 1974, Joey O'Donnell was born with strange symptoms. His insatiable appetite, incessant vomiting, and a relentless cough—which shook his tiny, fragile body and made it difficult to draw breath—confounded doctors and caused his parents agonizing, sleepless nights. After six sickly months, his salty skin provided the critical clue: he was one of thousands of Americans with cystic fibrosis, an inherited lung disorder that would most likely kill him before his first birthday. The gene and mutation responsible for CF were found in 1989—discoveries that promised to lead to a cure for kids like Joey. But treatments unexpectedly failed and CF was deemed incurable. It was only after the Cystic Fibrosis Foundation, a grassroots organization founded by parents, formed an unprecedented partnership with a fledgling biotech company that transformative leaps in drug development were harnessed to produce groundbreaking new treatments: pills that could fix the crippled protein at the root of this deadly disease. From science writer Bijal P. Trivedi, Breath from Salt chronicles the riveting saga of cystic fibrosis, from its ancient origins to its identification in the dank autopsy room of a hospital basement, and from the CF gene's celebrated status as one of the first human disease genes ever discovered to the groundbreaking targeted genetic therapies that now promise to cure it. Told from the perspectives of the patients, families, physicians, scientists, and philanthropists fighting on the front lines, Breath from Salt is a remarkable story of unlikely scientific and medical firsts, of setbacks and successes, and of people who refused to give up hope—and a fascinating peek into the future of genetics and medicine.Trade Review"I couldn't put the book down." —Bill Gates “A thorough and engrossing saga packed with information, Breath from Salt is really about the transformative power of hope. It arrives at just the right moment, when too many of us have forgotten what human faith, ingenuity, and relentless determination can accomplish.” —Dan Fagin, author of the Pulitzer Prize–winning Toms River “Beautifully written, Breath from Salt brings to life the amazing story of a passionate community that dared to dream, work together, and take extraordinary risks to bring life-saving treatments to those with cystic fibrosis. Timely and important, the breakthroughs described in this book are likely to accelerate cures for many other genetic diseases.” —Dr. Preston W. Campbell, former president and CEO of the Cystic Fibrosis FoundationTable of ContentsContents Introduction Part IChapter 1: Hello, Joey 1974Chapter 2: The Treatment Plan 1974Chapter 3: Case 44: Babies Hospital, New York City 1935Chapter 4: A New Disease 1936–1937Chapter 5: An Equal Opportunity Disease 1938–1942Chapter 6: Christmas Homecoming 1974–1977Chapter 7: The Sweat Test 1943–1960Chapter 8: A Tribe of Desperate Parents 1950–1955Chapter 9: Lessons from Polio 1955–1960Chapter 10: The Registry 1960–1966Chapter 11: The Therapist 1977Chapter 12: A Disease in Search of Ideas 1964–1980Chapter 13: The Hitman Cometh 1979–1982Chapter 14: Salt and Water 1970–1981Chapter 15: Salty Boy 1981–1983Chapter 16: Birth of an Advocate 1984 Chapter 17: Out of Many, One 1978–1984 Part 2Chapter 18: The Gene Hunters 1980–1984Chapter 19: Lucky Number Seven 1984–1985Chapter 20: Kate 1986Chapter 21: To Screen or Not to Screen Newborns 1985Chapter 22: Michigan 1985Chapter 23: Joey’s Long Goodbye 1986Chapter 24: Mad Pursuit 1987Chapter 25: The Gene 1989Chapter 26: Runny, Like Water 1989–1994Chapter 27: Venture Philanthropy—A New Way to Fund Drug Development 1977–1999Chapter 28: The Gene Is the Medicine 1989–1991Chapter 29: Transforming the Lungs 1992–2003Chapter 30: First-in-Human Trials 1992–1993Chapter 31: The Beall Curve 1996 Part 3Chapter 32: The Joey Fund 1989–1999Chapter 33: A Network for Developing Therapeutic Drugs 1997–1998Chapter 34: Aurora 1998–1999Chapter 35: The Gates Open 1987–2000Chapter 36: A Tale of Four Families—CF in the New Millennium 1999Chapter 37: The Takeover 2001Chapter 38: Getting the Band Together 2001–2003Chapter 39: Pay to Play 2002–2004Chapter 40: Molecular Architects of Vertex West 2004–2005Chapter 41: Rat to Man 2003–2004Chapter 42: A Christmas Gift 2004–2005Chapter 43: The Lucky Four 2005–2007Chapter 44: The Doorman Launches the Era of Genetic Medicine 2007–2008Chapter 45: Disruption Fall 2008Chapter 46: Tasting like Average People 2010–2012Chapter 47: Milestones to a Cure 2004–2015Chapter 48: Tackling the Common Mutation 2004–2013Chapter 49: What Mutation Are You? 2013–2014Chapter 50: The Mother of All Deals 2014Chapter 51: Very Personal Clinical Trials 2021–2017Chapter 52: The Triple 2015–2017Chapter 53: The Home Stretch 2018Chapter 54: The Leftovers 2015–2020Chapter 55: A New Generation 2017–2020 Epilogue 2019–2020 AcknowledgmentsTimelineEndnotesAbout the Author

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Book SynopsisOver 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.Table of ContentsChapter 1: Genetic testing, some themes and some basics· Brief introduction to genetic testing. · Themes o Complexity o Risk and uncertainty o DNA and identities o Future promises and limitations · Genetic basics o Information storage and copying o Chromosomes and inheritance patterns o Genes in genomes (nuclear and mitochondrial) o Transcription, translation and the genetic code o Mutation · Basic techniques of genetic testing o DNA extraction o Hybridisation o PCR and DNA amplification o Electrophoresis o DNA sequencing Chapter 2: Huntington disease, a severe autosomal recessive disorder · Huntington disease (HD) · Mutation mechanism and gain of function · Trinucleotide repeat expansions · Penetrance and genotype/phenotype correlation · Anticipation · Testing for HD and test metrics · Rationales for testing · Laboratory error · Ethical problems (sharing information) Chapter 3: Autosomal recessive inheritance and cystic fibrosis · Cystic fibrosis (CF) · Spectrum of mutations · Recessive disorders in populations (founder effect) · Testing for CF · Rationales for testing including neonatal screening · Prenatal diagnosis and ethical issues · Genetics and therapy for CF · Risk and uncertainty Chapter 4: X-linked inheritance: a question of gender · Chromosome number / balance (XX vs. XY) and X-inactivation · DNA methylation and epigenetics · DMD/BMD (genotype/phenotype correlation) · Mosaicism · Sharing genetic information · Androgen receptor gene and different phenotypes · Genetics and gender Chapter 5: Cancer genetics: acquired and inherited mutations · Cancer as a genetic disease · Tumour suppressors and oncogenes in the control of growth · Somatic/germline distinction · Genetic stratification and cancer treatment · Uncertainties and predictive testing · Future possibilities: liquid biopsy / ctDNA Chapter 6: Genes and identity · Forensic and laboratory identity testing · Uses of short tandem repeat markers in diagnostic genetics · DNA as a measure of identity · Relationships within and outside humanity · Problems with the concept of personal identity Chapter 7: Genome scale testing · Development of methods from chromosome analysis to next generation sequencing · Testing strategies (whole genome, whole exome, gene panels) · Utility of genome testing (many genes examined simultaneously, new causes identified, NIPD, cancer testing, de novo changes) · Assigning pathogenicity · Polygenic / multifactorial inheritance · Limitations and the ethics of inflated claims Chapter 8: DNA testing- pulling the strands together · Fundamentals of genetic testing and access to testing · Consent · Autonomy · Avoiding harm · Uncertainty, risk and biases · Benefits of genetics · The language of genetics (in the genetic code and in everyday language) Appendix: List of technical terms with page references to a definition in the text

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Book SynopsisBig data, genomics, and quantitative approaches to network-based analysis are combining to advance the frontiers of medicine as never before. With contributions from leading experts, Network Medicine introduces this rapidly evolving field of research, which promises to revolutionize the diagnosis and treatment of human diseases.Trade ReviewWhat will a human look like at molecular levels? The study behind the general concept of Network Medicine examines the effort to identify the blueprint and principles that will enable us to understand this complex life system at molecular levels. This book presents the state of the knowledge of network medicine and is an excellent reference for both experts in the area and general population interested in life science. -- Weiniu Gan, National Heart, Lung, and Blood InstituteThis book fills a gap in the literature by applying complex systems theory to the field of medicine. Such application is likely to trigger important results by promoting a very useful shift in perspective. Definitely a book to read. -- Guido Caldarelli, IMT Institute for Advanced Studies Lucca

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Book SynopsisShannon, Richard L. Sprott, Rosemarie Tong, Laurie ZolothTrade ReviewThis is a brilliant and useful book that summarizes much information from different points of view into a unified whole... So vibrant in its clarity,, so audacious in its thinking, it adds much to the luster of this remarkable book, one that deserves a wide readership. Doody's Review Service 2008 A comprehensive yet concise, simple-to-read synopsis of the issue involving modern biotechnology/aging research... Highly recommended. Choice 2009 A thought-provoking starting point for anyone interested in the varied and reciprocal implications of population aging and developments in biotechnology. -- Stephen J. Cutler, PhD Gerontologist 2009 An approachable... collection of essays -- Gareth Southwell Metapsychology 2009Table of ContentsPrefaceList of Contributors Part I: IntroductionChapter 1. Reality check: What Is Genetic Research on Aging Likely to Produce, and What Are the Ethical and Clinical Implications of Those Advances? Chapter 2. Meeting the Challenges of a Diverse Aging SocietyPart II: ImmortalityChapter 3. Immortality Through cloning? Reproduction, Regeneration, and the PosthumanChapter 4. The Transhumanist Movement: A Flawed Response to Aging and Its Natural ConsequenceChapter 5. Stem cell Research and InterventionChapter 6. The Ethical, Legal, and Social Implications of Antiaging TechnologiesChapter 7. Stem Cells and Aging: Quality and Quantity of Life in an Unjust World Part III: CentenariansChapter 8. Centenarians and GeneticsChapter 9. What Can We learn From Centenarians? Chapter 10. A Developmental Perspective on Aging and Genetic Technology: A Response to Studies of CentenariansPart IV: Genetic TestingChapter 11. Genetic Testing for Alzheimer Disease: The REVEAL Study Chapter 12. The Implications of Genetic testing for Alzheimer DiseaseChapter 13. Genetic Susceptibility to Alzheimer DiseaseChapter 14. Psychological Issues in Genetic TestingChapter 15. Genotype, Phenotype, and Primary care: Why the New Genetics Technology Is Not Ready for Primary Care Part V: Ethical and Social PerspectivesChapter 16. Genetics, Aging, and Primary care: Ethical Implications for CliniciansChapter 17. Aging, Genetics, and Social JusticeChapter 18. The Ethics of Aging: Question of Ends at the End of LifeChapter 19. A Lonely New World—or Me, Myself, and IIndex

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a huge range and FREE tracked UK delivery on ALL orders.

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Book SynopsisThe book provides a multidisciplinary and interdisciplinary discussion of the ethos and ethics of precision/personal medicine, involving scientists who have shaped the field, in dialogue with ethicists, social scientists and philosophers of science.

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Trade ReviewThis is an excellent book and a vital piece of work for clinical geneticists and counsellors. * BMA reviewing panel, BMA Medical Book Awards 2019 *An essential resource. A compulsory text for cytogeneticists, geneticists, and genetic counselors in training, and highly suitable for as a reference for other health professionals who encounter patients and families with chromosome abnormalities. * BMJ *Table of ContentsPrefaceAcknowledgmentsPART ONE: BASIC CONCEPTS1. Elements of Medical Cytogenetics2. Chromosome Analysis3. The Origins and Consequences of Chromosome Pathology4. Deriving and Using a Risk FigurePART TWO: PARENT WITH A CHROMOSOMAL ABNORMALITY5. Autosomal Reciprocal Translocations6. Sex Chromosome Translocations7. Robertsonian Translocations8. Insertions9. Inversions10. Complex Chromosomal Rearrangements11. Autosomal Ring Chromosomes12. Rare Conditions: Centromere Fissions, Complementary Isochromosomes, Telomeric Fusions, Balancing Supernumerary Chromosomes, Neocentromeres, Jumping Translocations, and Chromothripsis13. Down Syndrome, Other Full Aneuploidies, Polyploidy, and the Influence of Parental Age14. Autosomal Structural Rearrangements: Deletions and Duplications15. Sex Chromosome Aneuploidy and Structural Rearrangement16. Chromosome Instability SyndromesPART THREE: CHROMOSOME VARIANTS17. Normal Chromosomal VariationPART FOUR: DISORDERS ASSOCIATED WITH ABERRANT GENOMIC IMPRINTING18. Uniparental Disomy and Disorders of ImprintingPART FIVE: REPRODUCTIVE CTYOGENETICS19. Reproductive Failure20. Prenatal Testing Procedures21. Chromosome Abnormalities Detected at Prenatal Diagnosis22. Preimplantation Genetic DiagnosisPART SIX: DISORDERS OF SEX DEVELOPMENT23. Chromosomal Disorders of Sex DevelopmentPART SEVEN: NOXIOUS AGENTS24. Gonadal Cytogenetic Damage from Exposure to Extrinsic AgentsAPPENDICESA. Ideograms of Human Chromosomes and Haploid Autosomal LengthsB. Cytogenetic Abbreviations and NomenclatureC. Determining 95 Percent Confidence Limits and the Standard ErrorReferencesIndex

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Book SynopsisAn urgent plea for a broader understanding and awareness of the unconsidered dangers of new genetic technologiesTrade Review“Geneticist David B. Goldstein thinks that advances in human genomic sequencing and editing signal the end of present-day genetics. . . . An intriguing and disturbing book.”—NatureCHOICE Outstanding Academic Title 2022“An essential antidote to hubris . . . a thought-provoking exploration of the limits of current knowledge and the power and perils of the coming genetic technologies.”—Olivia Judson, author of Dr. Tatiana’s Sex Advice to All Creation: The Definitive Guide to the Evolutionary Biology of Sex“David Goldstein methodically describes the evolution of genetic technology, highlighting the potential quagmire if reproductive genomic design occurs before the thoughtful consideration of scientific limitations and ethical issues.”—Vandana Shashi, Duke University School of Medicine“Whether you agree or disagree, David Goldstein has provided an opinionated, clear-sighted, and ultimately compelling treatise on the moral imperative to mitigate congenital suffering.”—Greg Gibson, author of It Takes a Genome“The End of Genetics brings readers directly to the front lines of modern genetics, presenting a bold yet compelling vision of what the future holds. Already a pioneer in the history of modern genetics, David Goldstein is clearly shaping its future as well.”—Matthew Might, director, Hugh Kaul Precision Medicine Institute, University of Alabama at Birmingham

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Book SynopsisSomatic Gene Therapy, Paradigm Shift or Pandora's Box: A Perspective on Gene Therapy.- Gene Therapy for Cancer: Deceiving the Malignant Cell.- Gene Self-Assembly (GENSA): Facilitating the Construction of Genes and Vectors.- Gene Expression.- Tumour Genotype and Response to Cytotoxic Gene Therapy.- Protein Binding Matrices: Tools for Phenol-free Cloning and Vector Assembling.- Gene Transfer into Eukaryotic Cells.- Plasmid DNA Manufacturing.- Quality Assurance and Quality Control for Viral Therapeutics.- Analytical Assays to Characterise Adenoviral Vectors and Their Applications.- Validation of Gene Therapy Manufacturing Processes: A Case Study for Adenovirus Vectors.- Gene Delivery.- Regulatory Issues in Gene Therapy. Good Science - Good Sense.- Regulatory Aspects in Gene Therapy: Special Highlights on European Regulation.- Regulatory Issues for Process Development and Manufacture of Plasmids Under Contract.- Risk Assessment in Gene Therapy.Table of ContentsSomatic Gene Therapy, Paradigm Shift or Pandora's Box: A Perspective on Gene Therapy; M. Lawler. Gene Therapy for Cancer: Deceiving the Malignant Cell; M. Lawler. Gene Self-Assembly (GENSA): Facilitating the Construction of Genes and Vectors; C.P. Hodgson. Gene Expression; J. Kaur, et al. Tumour Genotype and Response to Cytotoxic Gene Therapy; P.T. Daniel, et al. Protein Binding Matrices: Tools for Phenol-free Cloning and Vector Assembling; V.I. Evtushenko. Gene Transfer into Eukaryotic Cells; M. Weber. Plasmid DNA Manufacturing; M. Schleef, et al. Quality Assurance and Quality Control for Viral Therapeutics; S.S. Kuwahara. Analytical Assays to Characterise Adenoviral Vectors and Their Applications; E. Lehmberg, et al. Validation of Gene Therapy Manufacturing Processes: A Case Study for Adenovirus Vectors; D. Vacante, et al. Gene Delivery; A. Anand. Regulatory Issues in Gene Therapy. Good Science - Good Sense; N. Chew, J.A. Cavagnaro. Regulatory Aspects in Gene Therapy: Special Highlights on European Regulation; O. Cohen-Haguenhauer. Regulatory Issues for Process Development and Manufacture of Plasmids Under Contract; J.M. Jenco. Risk Assessment in Gene Therapy; A. Anand, S.K. Arora. Index.

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Book SynopsisThis is a completely revised edition of a comprehensive and popular introduction to the fast moving area of Forensic Genetics. The text begins with key concepts needed to fully appreciate the subject and moves on to examine the latest developments in the field. Now illustrated in full colour throughout, this accessible textbook includes numerous references to relevant casework. With information on the full process of DNA evidence from collection at the scene of a crime to presentation in a legal context this book provides a complete overview of the field. Key Features: Greater in-depth coverage of kinship problems now covered in two separate chapters: one dealing with relationships between living individuals and the other covering identification of human remains. New chapter on non-human forensic genetics, including identification of bacteria and viruses, animals and plants. Self assessment questions to aid student understanding throughout tTable of ContentsForeword ix Preface xi Preface to first edition xiii 1 Introduction to forensic genetics 1 Forensic genetics 1 A brief history of forensic genetics 2 References 6 2 DNA structure and the genome 11 DNA structure 11 Organization of DNA into chromosomes 11 The structure of the human genome 13 Genetic diversity of modern humans 15 The genome and forensic genetics 16 Tandem repeats 16 Single nucleotide polymorphisms 18 References 19 3 Biological material – collection, characterization and storage 21 Sources of biological evidence 21 Collection and handling of material at the crime scene 23 Identification and characterization of biological evidence 23 Evidence collection 29 Sexual and physical assault 31 Storage of biological material 32 References 32 4 DNA extraction and quantification 37 DNA extraction 37 General principles of DNA extraction 37 DNA extraction from challenging samples 41 Quantification of DNA 45 DNA IQ system 48 References 49 5 Polymerase chain reaction 53 The evolution of PCR-based profiling in forensic genetics 53 DNA replication: the basis of the PCR 54 The components of PCR 54 Taq DNA polymerase 54 The PCR process 56 PCR inhibition 58 Sensitivity and contamination 60 The PCR laboratory 60 Further reading 62 References 62 6 The analysis of short tandem repeats 67 Structure of STR loci 67 The development of STR multiplexes 67 Detection of STR polymorphisms 70 Interpretation of STR profiles 72 Further reading 77 References 77 7 Assessment of STR profiles 81 Stutter peaks 81 Split peaks (±N) 81 Pull-up 83 Template DNA 84 Overloaded profiles 84 Low template DNA typing 84 Peak balance 86 Mixtures 86 Degraded DNA 88 PCR inhibition 90 References 91 8 Statistical interpretation of STR profiles 95 Population genetics 95 Deviation from the Hardy–Weinberg equilibrium 96 Statistical tests to determine deviation from the Hardy–Weinberg equilibrium 97 Estimating the frequencies of STR profiles 98 Corrections to allele frequency databases 98 Which population frequency database should be used? 103 Conclusions 104 Further reading 104 References 104 9 Evaluation and presentation of DNA evidence 107 Hierarchies of propositions 107 Likelihood ratios 109 Two fallacies 113 Comparison of three approaches 114 Further reading 115 References 115 10 Databases of DNA profiles 117 The UK National DNA Database 117 International situation 124 Further reading 128 References 128 11 Kinship testing 131 Parentage testing 131 Punnett square 132 Identification of human remains 139 Further reading 140 References 140 12 Single nucleotide polymorphisms 145 SNPs – occurrence and structure 145 Detection of SNPs 146 SNP detection for forensic applications 148 Forensic applications of SNPs 149 SNPs compared with STR loci 150 References 152 13 Lineage markers 155 Mitochondria 155 Applications of mtDNA profiling 157 Haplotypes and haplogroups 159 The Y chromosome 161 Forensic applications of Y chromosome polymorphisms 162 Further reading 165 References 165 14 Non-human DNA typing 171 Non-human sample types 171 Species identification 173 Linkage to an individual using STR loci 174 Linkage to an individual using mitochondrial loci 175 Microbial DNA testing 176 Concluding comments 176 Further reading 176 References 176 Appendix A Forensic parameters 181 Appendix B Useful web links 183 Glossary 185 Abbreviations 189 Index 193

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Book SynopsisGenomics and Proteomics Engineering in Medicine and Biology highlights current applications of biomedical informatics, as well as advancements in genomics-proteomics areas. Structures and algorithms are used to analyze genomic data and develop computational solutions for pathological understanding.Table of ContentsPreface. Contributors. 1. Qualitative Knowledge Models in Functional Genomics and Proteomics (Mor Peleg, Irene S. Gabashvili, and Russ B. Altman). 1.1. Introduction. 1.2. Methods and Tools. 1.3. Modeling Approach and Results. 1.4. Discussion. 1.5. Conclusion. References. 2. Interpreting Microarray Data and Related Applications Using Nonlinear System Identification (Michael Korenberg). 2.1. Introduction. 2.2. Background. 2.3. Parallel Cascade Identification. 2.4. Constructing Class Predictors. 2.5. Prediction Based on Gene Expression Profiling. 2.6. Comparing Different Predictors Over the Same Data Set. 2.7. Concluding Remarks. References. 3. Gene Regulation Bioinformatics of Microarray Data (Gert Thijs, Frank De Smet, Yves Moreau, Kathleen Marchal, and Bart De Moor). 3.1. Introduction. 3.2. Introduction to Transcriptional Regulation. 3.3. Measuring Gene Expression Profiles. 3.4. Preprocessing of Data. 3.5. Clustering of Gene Expression Profiles. 3.6. Cluster Validation. 3.7. Searching for Common Binding Sites of Coregulated Genes. 3.8. Inclusive: Online Integrated Analysis of Microarray Data. 3.9. Further Integrative Steps. 3.10. Conclusion. References. 4. Robust Methods for Microarray Analysis (George S. Davidson, Shawn Martin, Kevin W. Boyack, Brian N. Wylie, Juanita Martinez, Anthony Aragon, Margaret Werner-Washburne, Mo´nica Mosquera-Caro, and Cheryl Willman). 4.1. Introduction. 4.2. Microarray Experiments and Analysis Methods. 4.3. Unsupervised Methods. 4.4. Supervised Methods. 4.5. Conclusion. References. 5. In Silico Radiation Oncology: A Platform for Understanding Cancer Behavior and Optimizing Radiation Therapy Treatment (G. Stamatakos, D. Dionysiou, and N. Uzunoglu). 5.1. Philosophiae Tumoralis Principia Algorithmica: Algorithmic Principles of Simulating Cancer on Computer. 5.2. Brief Literature Review. 5.3. Paradigm of Four-Dimensional Simulation of Tumor Growth and Response to Radiation Therapy In Vivo. 5.4. Discussion. 5.5. Future Trends. References. 6. Genomewide Motif Identification Using a Dictionary Model (Chiara Sabatti and Kenneth Lange). 6.1. Introduction. 6.2. Unified Model. 6.3. Algorithms for Likelihood Evaluation. 6.4. Parameter Estimation via Minorization–Maximization Algorithm. 6.5. Examples. 6.6. Discussion and Conclusion. References. 7. Error Control Codes and the Genome (Elebeoba E. May). 7.1. Error Control and Communication: A Review. 7.3. Reverse Engineering the Genetic Error Control System. 7.4. Applications of Biological Coding Theory. References. 8. Complex Life Science Multidatabase Queries (Zina Ben Miled, Nianhua Li, Yue He, Malika Mahoui, and Omran Bukhres). 8.1. Introduction. 8.2. Architecture. 8.3. Query Execution Plans. 8.4. Related Work. 8.5. Future Trends. References. 9. Computational Analysis of Proteins (Dimitrios I. Fotiadis, Yorgos Goletsis, Christos Lampros, and Costas Papaloukas). 9.1. Introduction: Definitions. 9.2. Databases. 9.3. Sequence Motifs and Domains. 9.4. Sequence Alignment. 9.5. Modeling. 9.6. Classification and Prediction. 9.7. Natural Language Processing. 9.8. Future Trends. References. 10. Computational Analysis of Interactions Between Tumor and Tumor Suppressor Proteins (E. Pirogova, M. Akay, and I. Cosic). 10.1. Introduction. 10.2. Methodology: Resonant Recognition Model. 10.3. Results and Discussions. 10.4. Conclusion. References. Index. About the Editor.

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Book SynopsisIt presents information on treatment: genetic counseling, pharmacotherapy, intervention, and gene therapy.Trade ReviewThis useful and unique book can be used as a reference for specific issues related to fragile X, as an overview of particular topics, and as a comprehensive review of all of the various aspects of this condition. -- William O. Walker, Jr. Doody's Health Sciences Review Includes updated chapters on the cytogenetic and molecular biology of the FXS mutation and premutation. The first half addresses the diagnosis and research aspects and is well referenced. The latter half is dedicated to treatment and intervention. The chapter that emphasizes an integrated approach to intervention could easily qualify for continuing medical education credit. Journal of the American Medical Association This book should sit on the library shelves of clinical geneticists. It is well written, well referenced, and should become well thumbed. Journal of Medical Genetics Answers nearly all the questions that parents or clinicians might raise about fragile X syndrome... Can be recommended confidently as a thoroughly up-to-date, reliable, and informative account of the condition. The Lancet The clinical and cytogenetic material in this book is excellent and provides a strong background for physicians and students... Fragile X Syndrome still presents the best comprehensive treatment of this complex disorder. Physicians, students, and other interested professionals can either read this book from cover to cover or select the chapters that interest or apply to them. New England Journal of Medicine This useful and unique book can be used as a reference for specific issues related to fragile X, as an overview of particular topics, and as a comprehensive review of all of teh various aspects of this condition. -- William O. Walker, Jr.MD Doody's Book Reviews I strongly encourage genetic counselors and clinical geneticists to invest in a copy of this book. It is an invaluable resource on all aspects of Fragile X syndrom from genetic counceling, molecular testing, and prenatal diagnosis, to the latest treatment, education, and interventional strategies. When searching for up-to-date information on Fragile X syndrom, this book constitutes as one-stop-shopping. -- Barbara Pettersen Journal of Genetic Counseling This book is essential on the desk of everyone committed to the care of fragile X patients and to the research of the fascinating syndrome. Human Genetics 2003Table of ContentsContents: List of Contributors Preface to the Third Edition I Diagnosis and Research 1 The Physical and Behavioral Phenotype - Randi Jenssen Hagerman 2 The Molecular Biology of the Fragile X Mutation - W. Ted Brown 3 Epidemiology - Stephanie Sherman 4 FMR1 Protein Studies and Animal Model for Fragile X Syndrome - Ben. A. Oostra and Andre T. Hoogeveen 5 Brain Structure and Functions of FMR1 Protein - Scott Irwin, Roberto Galvez, Ivan Jeanne Weiler, Andrea Beckel-Mitchener, and William Greenough 6 Neuropsychology - Loisa Bennetto and Bruce F. Pennington II Treatment and Intervention 7 Genetic Counseling - Louise W. Gane and Amy Cronister 8 Medical Follow-up and Pharmacotherapy 9 The Treatment of Emotional and Behavioral Problems - Jennifer L. Hills Epstein, Karen Riley, and William E. Sobesky 10 An Integrated Approach to Intervention - Sarah Scharfenaker, Rebecca O'Connor, Tracy Stackhouse, Marcia L. Braden, and Kristen Gray 11 Academic Interventions - Marcia L. Braden 12 FMRI Gene Expression and Prospects for Gene Therapy - Paul J. Hagerman Appendix 1: General Information about Fragile X Syndrome - Susan Harris Appendix 2: Computer Software Information - Andrew Halpern, Lisa Nobel, and Kristen Gray Appendix 3: Learning Materials and Equipment - Andrew Halpern, Sarah Scharfenaker, Rebecca O'Connor, Tracy Stackhouse, Marcia L. Braden, and Kristen Gray Appendix 4: Toilet Training the Child with Fragile X Syndrome - Franci Crepeau-Hobson and Rebecca O'Connor INDEX

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Book SynopsisA basic understanding of human genetics is vital for all those working in the field of assisted human reproduction. Genetic makeup can hamper reproduction and insight into this is making genetic diagnosis and counselling increasingly important. This fully updated textbook continues the clear structure of the original edition, beginning with a chapter on the basics of genetics and cytogenetics. Genetic causes of infertility and the effect of epigenetics and transposons on fertility are discussed in detail. Several new chapters are included in this edition, reflecting the advances of the field, including preconception genetic analysis and screening in IVF and mitochondrial genetics. Combining genetics, reproductive biology and medicine, this is an essential text for practitioners in reproductive medicine and geneticists involved in the field looking to improve their knowledge of the subject and provide outstanding patient care.Trade Review'Recommended.' D. Schulman, ChoiceTable of Contents1. Basic genetics and cytogenetics: a brief reminder Karen Sermon; 2. Application of whole-genome technologies to ART Elia Fernandez Gallardo, Thomas Lefevre, Koen Theunis, and Thierry Voet; 3. Meiosis: how to get a good start in life Ursula Eichenlaub-Ritter; 4. Chromosomes in early human embryo development: incidence of chromosomal abnormalities, underlying mechanisms, and consequences for development Esther B. Baart, Effrosyni Chavli, and Diane Van Opstal; 5. DNA is not the whole story: transgenerational epigenesis and imprinting Ashwini Balakrishnan and J. Richard Challiet; 6. Genes are not the whole story: retrotransposons as new determinants of male fertility Patricia Fauque and Deborah Bourc'his; 7. Chromosomal causes of infertility: the story continues Svetlana A. Yatsenko and Aleksandar Rajkovic; 8. Genetics of human male infertility Stephane Viville and Ozlem Okutman; 9. Genetics of human female infertility Svetlana A. Yatsenko and Aleksandar Rajkovic; 10. Preconception genetics analysis and screening in IVF Juan Jose Guillen and Rita Vassena; 11. Genetic counseling in ART Christine De Die-Smulders and Ron van Golde; 12. Mitochondrial genetics in reproductive medicine Claudia Spits and Filippo Zambelli; 13. Preimplantation genetic diagnosis Jan Traeger-Synodinos and Carmen Rubio Lluesa; 14. Epigenetics and ART Aafke P. A. van Montfoort; 15. Ethical considerations in human reproductive genetics Guido de Vert and Wybo Dondorp.

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