Medical genetics Books

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 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 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 SynopsisThis 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD.Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers.The book presents a clinical and biochemical approach to the diagnosis and management of IEM with many diagnostic algorithms for patients of all ages and with a particular focus on neurological presentations. It includes separate, comprehensive sections on IEM classified in 3 major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, mostly diagnosed with metabolic markers; and complex molecules disorders, mostly diagnosed with molecular techniques.Two new chapters were added, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking.Table of ContentsI Diagnosis and treatment: General principles: 1 Clinical Approach to Inborn Errors of Metabolism in Paediatrics.- 2 Inborn Errors of Metabolism in Adults: A Diagnostic Approach to Neurological and Psychiatric Presentations.- 3 Diagnostic Procedures.- 4 Emergency Treatments II Disorders of Energy Metabolism 5 The Glycogen Storage Diseases and Related Disorders.- 6 Congenital Hyperinsulinism and Genetic Disorders of Insulin Resistance and Signalling.- 7 Disorders of Glycolysis and the Pentose Phosphate Pathway.- 8 Disorders of Glucose and Monocarboylic Acid Monocarboxylate Transporters.- 9 Disorders of Creatine Metabolism.- 10 Disorders of the Oxidative Phosphorylation .- 11 Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle.- 12 Disorders of Mitochondrial Fatty Acid Oxidation and Riboflavin Metabolism.- 13 Disorders of Ketogenesis and Ketolysis III Small Molecule Disorders 14 Disorders of Galactose Metabolism.- 15 Disorders of Fructose Metabolism.- 16 Hyperphenylalaninaemia.- 17 Disorders of Tyrosine Metabolism.- 18 Branched-chain Organic Acidurias/Acidaemias.- 19 Disorders of the Urea Cycle and Related Enzymes.- 20 Disorders of Sulfur Amino Acid Metabolism.- 21 Disorders of Ornithine and Proline Metabolism.- 22 Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism.- 23 Nonketotic Hyperglycinaemia and Lipoate Deficiency Disorders.- 24 Disorders of Glutamine, Serine and Asparagine Metabolism.- 25 Disorders of Amino Acid Transport at the Cell Membrane.- 26 Cystinosis.- 27 Biotin-Responsive Disorders.- 28 Disorders of Cobalamin and Folate Transport and Metabolism.- 29 Disorders of Thiamine and Pyridoxine Metabolism.- 30 Disorders of Neurotransmission.- 31 Disorders of Peptide and Amine Metabolism.- 32 Disorders of Purine and Pyrimidine Metabolism.- 33 Disorders of Haem Biosynthesis.- 34 Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc IV Complex Molecule Disorders and Cellular Trafficking Disorders 35 Disorders of intracellular triglycerides and phospholipid metabolism.- 36 Inborn Errors of Lipoprotein Metabolism Presenting in Childhood.- 37 Disorders of Isoprenoid/Cholesterol Synthesis.- 38 Disorders of Bile Acid Synthesis.- 39 Disorders of Nucleic Acid Metabolism, tRNA Metabolism and Ribosomal Biogenesis.- 40 Disorders of Sphingolipid Synthesis, Sphingolipidoses, Niemann-Pick Disease Type C and Neuronal Ceroid- Lipofuscinoses.- 41 Glycosaminoglycans and Oligosaccharides Disorders: Glycosaminoglycans Synthesis Defects, Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders.- 42 Inborn Errors of Non-Mitochondrial Fatty Acid Metabolism Including Peroxisomal Disorders.- 43 Congenital Disorders of Glycosylation, Dolichol and Glycosylphosphatidylinositol Metabolism.- 44 Disorders of Cellular Trafficking V Appendices 45 Medications Used in the Treatment of Inborn Errors

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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 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 SynopsisFrom the Foreword by Candy Cooley, formerly Genetics Awareness Programme Lead at the NHS National Genetics and Genomics Education Centre: “What a delight it is … to read a book which takes complex scientific concepts and ensures they are understandable by all.” With activities and answers, reflection points and a glossary, this interactive textbook supports the ‘Fit for Practice in the Genetics Era’ competence framework, offering an introduction to the theory of genetics and then using common genetic conditions/disorders as case studies to help students apply theory to practice and examine the service user experience. Genetics is written by an experienced teacher of health care sciences and is ideal for student nurses who need to demonstrate and apply knowledge of genetics and genomics. It is also suitable for other health care students and for qualified practitioners who would like to refresh their knowledge of the subject. From lecturer reviews: “A well written and nicely laid out genetics text at an appropriate level for adult nursing students.” “Fabulous text, student friendly.”Table of ContentsForeword; Introduction 1. Basic cell biology 1.1 Introduction 1.2 Chromosomes 1.3 Chromosomal inheritance 1.4 Genetic information 1.5 Protein 1.6 Mitochondrial DNA 1.7 The classification of genetic material 2. Inheritance 2.1 Introduction 2.2 Exceptions to the rules 3. Autosomal recessive and dominant inheritance 3.1 Introduction 3.2 Autosomal recessive inheritance 3.3 Autosomal dominant inheritance 3.4 Classification of gene action 3.5 Co-dominance 3.6 Multiple alleles 3.7 Lethal alleles 4. Sex-linked inheritance 4.1 Introduction 4.2 The X chromosome 4.3 The Y chromosome 4.4 Sexual development 4.5 The inheritance of sex 4.6 Sex-linked inheritance 4.7 X inactivation 4.8 Sex-linked genetic effects 5. Two or more genes 5.1 Introduction 5.2 Monogenic inheritance 5.3 Polygenic inheritance 5.4 Multifactorial inheritance 5.5 Common multifactorial disorders 5.6 Identifying the genes in multifactorial conditions 6. Mutations 6.1 Introduction 6.2 Chromosomal mutations 6.3 Gene mutations 7. Pedigree analysis 7.1 Introduction 7.2 Modes of inheritance 7.3 Problems with pedigree analysis 8. Clinical applications 8.1 Screening and testing 8.2 Gene therapy 8.3 Pharmacogenetics 9. Cancer genetics 9.1 Introduction 9.2 Oncogenes 9.3 Tumour-suppressor genes 9.4 Environmental triggers 9.5 Other cancer considerations 10. Genetic counselling 10.1 Introduction 10.2 UK genetic services 10.3 Genetic counselling 10.4 Becoming a genetic counsellor 10.5 Making an appropriate referral 10.6 Genetic counselling for tests 10.7 Ethical issues 10.6 Internet resources for genetic education Answers to the activities; Glossary; Index

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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 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 SynopsisTrade Review"Murphy has gathered a huge amount of research material on longevity, giving the book a tone of meticulous authority" * Kirkus Reviews *"[An] informative deep dive into the research behind living longer and the aging process."---Tom Wilk, New Jersey Monthly"Meticulous. . . . [Murphy's] sweep is vast as she discourses on diet, exercise, insulin signaling and the genes that affect longevity. In her final, superb chapters, she takes on the associations between the human microbiome and cognitive deterioration, wrapping up with a look ahead to emerging drug therapies."---Hamilton Cain, Wall Street Journal"In How We Age, geneticist Coleen Murphy provides no silver bullets for remaining youthful. Rather, she offers a scholarly account of the state of ageing research that is both lively and personal. She also gives real insight into the ups and downs of leading a research laboratory. . . . How We Age will be particularly useful to researchers, but it should also appeal to general readers who want to know what it took to arrive at the current understanding of ageing — and the prospects of undergoing it in better shape."---Linda Partridge, Nature

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Book SynopsisTrade Review"Breathing Race into the Machine brilliantly tracks the remarkable story—lasting to the present—of how ‘correcting for race’ in measures of lung capacity became unremarkable scientific practice. This eye-opening account demonstrates that precision technologies and statistical techniques that supposedly measure biological differences accurately can mask racial myths and wreak devastating consequences for black people’s health and legal rights. Essential reading for everyone concerned about the impact of race on science and technology."—Dorothy Roberts, University of Pennsylvania, author of Fatal Invention: How Science, Politics, and Big Business Re-create Race in the Twenty-first Century"Lundy Braun illuminates how the development of a new machine to measure lung capacity could begin with a benign purpose to assess the impact of working conditions in the coal mines in the early 19th century, but would later ‘morph’ into a justification for the putative relationship between difference and hierarchy that has remained intact for nearly two centuries. Braun documents how the social, economic and political fabric of each period is interwoven into the science of measurement—a theme that deftly carries throughout the book, and will establish Breathing Race into the Machine as a landmark contribution to the social studies of science."—Troy Duster, author of Backdoor to Eugenics"In Breathing Race into the Machine, Lundy Braun powerfully reinvigorates our understanding of how racial formation happens. An incisive, considered study of a seemingly conventional physiology instrument, this book reveals science as a foundational feature of the social construction of race. We create our own difference engines, but Braun’s astute book reminds us that we do not have to remain captive to them."—Alondra Nelson, author of Body and Soul: The Black Panther Party and the Fight against Medical Discrimination"A fascinating read."—Choice"Ultimately, Breathing Race into the Machine disrupts ideas about technology’s objectivity to show the pernicious persistence of racial bias."—African American Review"Great value to those with an interest in the history of science and technology, occupational health and disease, and the construction of whiteness and blackness."—Social History of Medicine"Intellectually provocative, original, and extensively researched."—American Historical Review"This book reminds us that tools have a history and that their history matters."—Journal of American History"Lundy Braun provides her readers with the most meticulously detailed, and I should add sophisticated, historical analysis. . . her account of the career of the technical device of the spirometer offers surprising and valuable insights."—Science as Culture"Breathing Race into the Machine is theoretically informed, well researched, and well written. Its compelling account contributes to the scholarship of racialization in science and medicine."—ISISTable of ContentsContentsAcknowledgmentsIntroduction: Measuring Vital Capacity1. “Inventing” the Spirometer: Working-Class Bodies in Victorian England2. Black Lungs and White Lungs: The Science of White Supremacy in the Nineteenth-Century United States3. Filling the Lungs with Air: The Rise of Physical Culture in America4. Progress and Race: Vitality in Turn-of-the-Century Britain5. Globalizing Spirometry: The “Racial Factor” in Scientific Medicine6. Adjudicating Disability in the Industrial Worker7. Diagnosing Silicosis: Physiological Testing in South African Gold MinesEpilogue: How Race Takes RootNotesIndex

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Book SynopsisForward -- A Brave New World., Chapter 1.  From Genes to Genomes:  What's It All About?  ([Author's Note: Introduction; include short genetics history]., Chapter 2.  My Family's Medical History (and why it's important for me to know)., Chapter 3.  A Savior Sibling [Author's Note:  Preimplantation genetic diagnosis/Selection]., Chapter 4. Too Few, Too Many [Author's Note: Aneuploidy/Copy Number Variation]., Chapter 5. You've Probably Already Had a Genetic Test (But no one told you):   Newborn Screening., Chapter 6. Sweet Blood (Genetics and Diabetes)., Chapter 7.  Will this Drug Work for You? [Author's Note:  Pharmacogenetics/Creating a Drug Just for You]., Chapter 8.  No Two Cancers Are the Same [Author's Note:  Microarrays and Disease sub-classification]., Chapter 9.  Can We Fix our Faulty Genes? [Author's Note: Gene Therapy/Genome Editing-CRISPR]., Chapter 1Table of ContentsForward -- A Brave New World [Part I -- Introduction] Chapter 1. From Genes to Genomes: What’s It All About? ([Author’s Note: Introduction; include short genetics history] [Part II – Medical Applications] Chapter 2. My Family’s Medical History (and why it’s important for me to know) Chapter 3. A Savior Sibling [Author’s Note: Preimplantation genetic diagnosis/Selection] Chapter 4. Too Few, Too Many [Author’s Note: Aneuploidy/Copy Number Variation] Chapter 5. You’ve Probably Already Had a Genetic Test (But no one told you): Newborn Screening Chapter 6. Sweet Blood (Genetics and Diabetes) Chapter 7. Will this Drug Work for You? [Author’s Note: Pharmacogenetics/Creating a Drug Just for You] Chapter 8. No Two Cancers Are the Same [Author’s Note: Microarrays and Disease sub-classification] Chapter 9. Can We Fix our Faulty Genes? [Author’s Note: Gene Therapy/Genome Editing-CRISPR] Chapter 10. Hunting the Invisible Bugs through DNA (Author’s Note: Infectious disease/MRSA story) Chapter 11. Can Genes Explain Behavior? (Note: Behavioral Genetics/Gene x Environment) [Part III – Non-medical Applications] Chapter 12. The Not So Golden Age of Golden Rice {alternative title: Tastier (and Healthier) Foods through Genetic Technology} Chapter 13. Cleaning up the Environment: New Ways to Detect Land Mines and Digest Oil Chapter 14. Genetics and the Crime Scene: Just like TV? Chapter 15. Are We Related to Cavemen? [Alternative Title: Ancient Ancestors] [Author’s Note: Neanderthal/woolly mammoth/Population history/Redefining Race] Chapter 16. Creating New Life [Alternative Title: Bringing back Extinct Species] Chapter 17. Genetic Testing Without A Physician – A Brave New World [Author’s Note: Direct to Consumer Marketing] [move this to Part II?]

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Book SynopsisTwo leaders in the field of genetics—a bioethicist-health lawyer and an obstetrician-gynecologist geneticist—answer the most pressing questions about the application of new genetics to our universal medicine and what personalized medicine means for individual healthcare.Breakthroughs in genetic research are changing modern medicine and pharmaceuticals. But what are these changes and how do they affect our individual care? Genomic Messages examines these groundbreaking changes and the questions they raise: What kind of specific medical innovation do we have to look forward to now and tomorrow? How will this “flood” of genetic messages change our lives, our interaction with our physicians and our healthcare system?Groundbreaking and provocative, Genomic Messages fuses the often conflicting worlds of medicine and law to provide information and insight that will impact the health choices of every one of us, from how medicine is pra

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Book Synopsis

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Book Synopsis

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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 ContentsSection I. Genomics and the eye 1. Genetic disorders and genetic variants 2. Genetic testing techniques 3. Genetic variant interpretation 4. Genetic counselling and family support 5. Syndromic conditions and the eye 6. Ophthalmic phenotyping. Electrophysiology 7. Ophthalmic phenotyping. Imaging 8. Gene therapy and treatment trials Section II. Genetic disorders affecting the anterior segment 9. Genetic disorders affecting the cornea 10. Anterior segment developmental disorders 11. Cataract 12. Ectopia lentis Section III. Genetic disorders affecting the posterior segment 13. Genetic disorders affecting the retina, choroid and RPE 14. Familial vitreoretinopathies 15. Genetic disorders affecting the optic nerve Section IV. Genetic disorders affecting both the anterior and posterior segment 16. Developmental eye disorders 17. Aniridia 18. Albinism Section V. Genetic disorders affecting ocular motility 19. Infantile nystagmus 20. Congenital cranial dysinnervation disorders 21. Progressive external ophthalmoplegia Section VI. Tumour predisposition syndromes 22. Phakomatoses 23. Naevoid basal cell carcinoma syndrome 24. Congenital hypertrophy of retinal pigment epithelium (CHRPE) 25. Retinoblastoma

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Book SynopsisAbout our authors Mark F. Sanders has been a faculty member in the Department of Molecular and Cellular Biology at the University of California, Davis, since 1985. In that time, he has taught more than 150 genetics courses to nearly 35,000 undergraduate students. Although he specializes in teaching the genetics course for which this book is written, his genetics teaching experience also includes a genetics laboratory course, an advanced human genetics course for biology majors, and a human heredity course for nonscience majors, as well as introductory biology and courses in population genetics and evolution. He has also served as an advisor to undergraduate students and in undergraduate education administration, and he has directed several undergraduate education programs. Dr. Sanders received his B.A. degree in Anthropology from San Francisco State University, his M.A. and Ph.D. degrees in Biological Anthropology from the University of California, LTable of Contents1. The Molecular Basis of Heredity, Variation, and Evolution 2. Transmission Genetics 3. Cell Division and Chromosome Heredity 4. Inheritance Patterns of Single Genes and Gene Interaction 5. Genetic Linkage and Mapping in Eukaryotes 6. Genetic Analysis and Mapping in Bacteria and Bacteriophage Application Chapter: Part I: Genetic Counseling 7. DNA Structure and Replication 8. Molecular Biology of Transcription and RNA Processing 9. The Molecular Biology of Translation Application Chapter: Part II: Genetic Testing 10. Chromosome Chapter Title TBD 11. Gene Mutation, DNA Repair, and Homologous Recombination 12. Chromosome Chapter Title TBD 13. Regulation of Gene Expression in Bacteria and Bacteriophage 14. Regulation of Gene Expression in Eukaryotes 15. Analysis of Gene Function by Forward Genetics and Reverse Genetics Application Chapter: Part III: Cancer Genetics 16. Recombinant DNA Technology and Its Applications 17. Genomics: Genetics from a Whole-Genome Perspective 18. Organelle Inheritance and the Evolution of Organelle Genomes 19. Developmental Genetics 20. Genetic Analysis of Quantitative Traits Application Chapter: IV: Personalized Medicine 21. Population Genetics and Evolution at the Population, Species, and Molecular Levels Application Chapter: V: Forensic Genetics

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Book SynopsisThe process of genetic counselling involves many key components, such as taking a family genetic history, making a diagnosis, and providing communication and support to the family. Among these core processes is the mathematical calculation of the actual risk of a possible genetic disorder. For most physicians and counsellors, the mathematics and statistics involved can be a major challenge which is not always helped by complex computer programs or lengthy papers full of elaborate formulae. In this clear, reader-friendly guide, Ian Young addresses this problem and demonstrates how risk can be estimated for inherited disorders using a basic knowledge of the laws of probability and their application to clinical problems. The text employs a wealth of clearly explained examples and key points in order to guide the reader to an accurate assessment of the risk of genetic disease. It primarily will appeal to genetic counsellors, geneticists, and all those involved in providing medical genetic services.In this new edition, Dr. Young has pruned redundancies and extensively updated the concepts in each of the 10 chapters, and he has included more working examples, a popular feature of the book.Table of ContentsULTRASOUND AND PRENATAL DIAGNOSIS; OVERLAPPING NORMAL DISTRIBUTIONS; LENGTH OF PROMETAPHASE CHROMOSOME SEGMENTS

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Book SynopsisGenomics has transformed the biological sciences. From epidemiology and medicine to evolution and forensics, the ability to determine an organism''s complete genetic makeup has changed the way science is done and the questions that can be asked of it. Its most celebrated achievement was the Human Genome Project, a technologically challenging endeavor that took thousands of scientists around the world 13 years and over 3 billion US dollars to complete. In this Very Short Introduction John Archibald explores the science of genomics and its rapidly expanding toolbox. Sequencing a human genome now takes only a few days and costs as little as $1,000. The genomes of simple bacteria and viruses can be sequenced in a matter of hours on a device that fits in the palm of your hand. The resulting sequences can be used to better understand our biology in health and disease and to ''personalize'' medicine. Archibald shows how the field of genomics is on the cusp of another quantum leap; the implications for science and society are profound.ABOUT THE SERIES: The Very Short Introductions series from Oxford University Press contains hundreds of titles in almost every subject area. These pocket-sized books are the perfect way to get ahead in a new subject quickly. Our expert authors combine facts, analysis, perspective, new ideas, and enthusiasm to make interesting and challenging topics highly readable.Trade ReviewGenomics does an amazingly good job of covering the gist and gestalt of arguably the most wide-ranging and fastest developing of the biological sciences. * CHOICE Reviews *Table of Contents1: What is genomics? 2: How to read the book of life 3: Making sense of genes and genomes 4: The human genome in biology and medicine 5: Evolutionary genomics 6: Genomics and the microbial world 7: The future of genomics Further Reading Index

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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 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 SynopsisGenetic Counseling Research: A Practical Guide is the first text devoted to research methodology in genetic counseling. This text offers step-by-step guidance for conducting research, from the development of a question to the publication of findings. Genetic counseling examples, user-friendly worksheets, and practical tips guide readers through the research and publication processes.With a highly accessible, pedagogical approach, this book will help promote quality research by genetic counselors and research supervisors--and in turn, increase the knowledge base for genetic counseling practice, other aspects of genetic counseling service delivery, and professional education. It will be an invaluable resource to the next generation of genetic counseling and its surrounding disciplines.Trade ReviewThe authors have done an excellent job with this manual of scientific methodology oriented to genetic counselors... The value of this book lies in the simplicity of its presentation and its usefulness to beginning genetic counselors who plan to embark on research and scientific writing. * Doody's Notes *Table of ContentsPreface ; Chapter 1: Developing Research Questions ; Chapter 2: Finding Sources ; Chapter 3: Writing a Review of Literature ; Chapter 4: Ethics in Research ; Chapter 5: Choosing a Paradigm ; Chapter 6: Designing a Quantitative Study ; Chapter 7: Quantitative Data Analysis: I've got data, how do I get answers? ; Chapter 8: Conducting Qualitative Genetic Counseling Research ; Chapter 9: Preparing a Manuscript for Publication ; Chapter 10: Guidelines for Directing Research ; References ; Appendix: Additional Resources for Researchers and Research Supervisors

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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 SynopsisNystagmus in Infancy and Childhood is a highly-illustrative and thoughtfully written text that provides clinicians and scientists with detailed yet concise information regarding our current understanding, evaluation, and treatments of nystagmus in infancy and childhood. Throughout the text are clinical pearls and narrative observations intended to help the reader appreciate the enormous strides forward in the past 50 years of nystagmus research. Timely and comprehensive, this book is an everything you need to know resource, and will provide the reader with:- detailed methodologies of investigation, including analysis software, models of the ocular motor system, and current hypotheses regarding ocular motor oscillations- complementary appendices that can be used for special purposes, i.e., as clinical examination sheets, patient information sheets, and algorithm for computer analysis of nystagmus waveforms- new therapeutic approaches, using relevant eye-movement data and mechanisms- a rTrade Review"This book is unique in that it describes, illustrates, and shares current understanding, evaluation and treatment of nystagmus in infancy and childhood. The duo of authors named below have broadened the frontiers of knowledge on this disorder, as you will discover from the research-based information provided in this book, with discussions and reference sources; and graphics, including charts, figures, formulas, images, and tables." --Biz India "...Enterprising and bold, and is an invaluable, eminently readable book for clinicians, vision scientists, and trainees." --PerceptionTable of ContentsChapter 1. Relevant Anatomy and Physiology ; 1.1 INFRANUCLEAR OCULAR MOTOR ANATOMY ; 1.1.1 Extraocular Muscles ; 1.1.2 Extraocular Muscle Pulleys ; 1.1.3 Orbital Tissues ; 1.2 SUPRANUCLEAR OCULAR MOTOR ANATOMY ; 1.2.1 Frontal Eye Fields ; 1.2.2 Superior Colliculus ; 1.2.3 Brainstem Nuclei ; 1.2.4 Vestibular Nuclei ; 1.2.5 Cerebellum ; 1.3 AFFERENT SYSTEM ; 1.3.1 Retina/Optic Nerve ; 1.3.2 Optic Nerve ; 1.3.3 Lateral Geniculate ; 1.3.4 Geniculostriate ; 1.3.5 Association Cortex ; 1.3.6 Ocular Motor Proprioception ; 1.4 EFFERENT SYSTEM ; 1.4.1 Smooth Pursuit System ; 1.4.2 Saccadic System ; 1.4.3 Vergence System ; 1.4.4 Vestibuloocular System ; Chapter 2. Infantile Nystagmus SyInfantile Nystagmus Syndromendrome ; 2.1 CHARACTERISTICS OF INS ; 2.1.1 History and Background ; 2.1.1.1 Ancient Descriptions and Theories ; 2.1.1.2 Connection to Fixation Attempt ; 2.1.1.3 Modern Physiological Investigation ; 2.1.2 Waveforms, Models, and Mechanisms ; 2.1.2.1 Waveform Types ; 2.1.2.2 Braking and Foveating Saccades ; 2.1.2.3 The Foveation Period ; 2.1.2.4 Foveation Accuracy ; 2.1.2.5 Target Acquisition Time ; 2.1.2.6 Smooth Pursuit ; 2.1.3 The Static Neutral Zone/Region ; 2.1.3.1 Latent Component ; 2.1.4 The Dynamic Neutral Zone/Region ; 2.1.4.1 Asymmetric, (a)Periodic Alternation ; 2.1.4.2 Optokinetic, Pursuit and Vestibuloocular Responses ; 2.1.5 The Null Angle/Zone/Region ; 2.1.6 The Convergence Null ; 2.1.7 The Saccadic Response ; 2.1.8 Static and Dynamic Head Posturing ; 2.1.9 Foveation and Visual Acuity (High Spatial Frequency Vision) ; 2.1.9.1. The eXpanded Nystagmus Acuity Function (NAFX) ; 2.1.9.1.1 NAFX vs. Gaze Angle ; 2.1.9.1.2 LFD and TID ; 2.1.10 Oscillopsia Suppression ; 2.1.10.1 Foveation Dynamics ; 2.1.10.2 Temporal Sampling ; 2.1.10.3 Efference Copy ; 2.1.11 Afferent Stimulation ; 2.1.11.1 Cutaneous Trigeminal Stimulation ; 2.1.11.2 Deep Muscle Stimulation ; 2.1.11.3 Contact Lenses ; 2.1.11.4 Biofeedback ; 2.1.12 Canine Nystagmus (Achiasmatic Belgian Sheepdog) ; 2.1.12.1 See-Saw ; 2.1.12.2 Pendular ; 2.1.12.3 Tenotomy & Reattachment Procedure ; 2.1.13 Canine Model of INS with RPE65 Retinal Degeneration (Briard) ; 2.2 ETIOLOGY OF INS ; 2.2.1 Familial (Gene Defect) ; 2.2.2 Developmental Disturbance Of Ocular Motor System with Associated Sensory System Deficit. ; 2.2.2.1 Albinism ; 2.2.2.2 Achiasma ; 2.2.2.3 Infantile Strabismus ; 2.2.2.4 Non-vectorial Visual Sensory Deficits ; 2.2.3 The Direct Cause(s) of INS with or without Sensory/Genetic Deficits ; 2.2.3.1 Loss of Smooth-Pursuit Damping ; 2.2.3.2 Tonic Vestibular-Optokinetic Imbalance ; 2.3 VISUAL FUNCTION DEFICITS AND MEASUREMENTS OF INS ; 2.3.1 Static Deficits ; 2.3.1.1 The eXpanded Nystagmus Acuity Function and Longest Foveation ; Domain Measures ; 2.3.2 Dynamic Deficits ; 2.3.2.1 Target Acquisition Time (Stationary Targets) ; 2.3.2.2 Target Acquisition Time (Moving Targets) ; 2.3.3 Clinical ; 2.3.3.1 Visual Acuity at Different Gaze Angles ; 2.4 TREATMENTS OF INS ; 2.4.1 Goals ; 2.4.2 Non-Surgical ; 2.4.2.1 Prisms ; 2.4.2.2 Contact Lenses ; 2.4.2.3 Drugs ; 2.4.2.4 Biofeedback ; 2.4.2.5 Gene-Transfer Therapy ; 2.4.3 Surgical ; 2.4.3.1 Four-Muscle Resection & Recession Procedure (Operation 1) ; (aka Kestenbaum, Anderson-Kestenbaum, or Anderson+Goto) ; 2.4.3.2 Two-Muscle Recession Procedure (Operation 1A) (aka Anderson) ; 2.4.3.3 Bilateral Medial Rectus Recession Procedure (Operation 8) ; 2.4.3.4 Tenotomy & Reattachment Procedure (Operation 6) ; Chapter 3. Fusion Maldevelopment Nystagmus Syndrome ; 3.1 CHARACTERISTICS OF FMNS ; 3.1.1 Waveforms, Models, and Mechanisms ; 3.1.1.1 Types (FMNS plus Nucleus of the Optic Tract) ; 3.1.1.2 The Fixating Eye ; 3.1.1.3 Target Foveation and Dual-Mode Fast Phases ; 3.1.1.4 Foveation Accuracy ; 3.1.2 Variation with Gaze Angle ; 3.1.3 Head Position ; 3.1.4 Foveation, NAFX, and Acuity ; 3.1.5 Efference Copy, Foveation, and Oscillopsia Suppression ; 3.2 TREATMENTS OF FMNS ; 3.2.1. Fixation Preference ; 3.2.2. Alexander's Law ; 3.2.3. Eye Muscle Surgery ; Chapter 4. Other Types of Nystagmus of Infancy ; 4.1 NYSTAGMUS BLOCKAGE SYNDROME ; 4.1.1 Characteristics of NBS ; 4.1.1.1 Multiple Types of Nystagmus ; 4.1.1.2 Waveforms and Mechanisms ; 4.1.1.2.1 Target Foveation ; 4.1.1.2.2 Foveation Accuracy ; 4.1.1.3 Purposive Esotropia ; 4.1.1.4 Head Position ; 4.1.1.5 Blockage Syndrome Types I and II ; 4.1.1.6 Foveation, NAFX, and Acuity ; 4.1.1.7 Efference Copy, Foveation, and Oscillopsia Suppression ; 4.1.2 Treatments of NBS ; 4.1.2.1. Fixation Preference ; 4.1.2.2. Alexander's Law ; 4.1.2.3. Surgical ; 4.1.2.3.1. Fixating Eye ; 4.2 SPASMUS NUTANS SYNDROME ; 4.2.1 Characteristics of SNS ; 4.2.1.1 Waveforms and Mechanisms ; 4.2.1.2 Variable Interocular Phase ; 4.2.1.3 Head Nodding ; 4.2.2 Treatment of SNS ; Chapter 5. Differential Diagnosis of Nystagmus In Infancy and Childhood ; 5.1 NYSTAGMUS WITHOUT ASSOCIATED NEUROLOGICAL DISEASE-<"BENIGN>" ; 5.1.1. Infantile Nystagmus Syndrome ; 5.1.1.1 Association with Strabismus ; 5.1.1.2 Clinical Signs and Symptoms ; 5.1.1.3 Differential Diagnosis ; 5.1.1.4 Reverse-Cover and Gaze-Angle Cover Tests ; 5.1.2 Fusion Maldevelopment Nystagmus Syndrome ; 5.1.2.1 Association with Strabismus ; 5.1.2.2 Clinical Signs and Symptoms ; 5.1.2.3 Differential Diagnosis ; 5.1.2.4 Alternate-Cover and Gaze-Angle Cover Tests ; 5.1.3 Nystagmus Blockage Syndrome ; 5.1.3.1 Association with Strabismus ; 5.1.3.2 Clinical Signs and Symptoms ; 5.1.3.3 Differential Diagnosis ; 5.1.4 Spasmus Nutans Syndrome ; 5.1.4.1 Association with Strabismus ; 5.1.4.2 Clinical Signs and Symptoms ; 5.1.4.3 Differential Diagnosis ; 5.1.5 Nystagmus and Strabismus ; 5.2 NYSTAGMUS WITH ASSOCIATED NEUROLOGICAL DISEASE-<"SYMPTOMATIC>" ; 5.2.1 Vestibular Nystagmus ; 5.2.1.1 Peripheral Vestibular Imbalance ; 5.2.1.2 Central Vestibular Imbalance ; 5.2.1.3 Central Vestibular Instability (Periodic Alternating) ; 5.2.2 Gaze-holding Deficiency Nystagmus ; 5.2.2.1 Eccentric Gaze, Gaze-evoked, Rebound ; 5.2.2.2 Gaze Instability (<"Run-away>") ; 5.2.3 <"Vision-Loss>" Nystagmus ; 5.2.3.1 Pre-chiasmal, Optic Chiasm, Post-chiasmal Vision Loss ; 5.2.4 Other Pendular Nystagmus Associated with Diseases of Central Myelin ; 5.2.4.1 Oculopalatal Tremor or <"Myoclonus>" ; 5.2.4.2 Pendular Vergence Nystagmus Associated with Whipple's Disease ; 5.2.5 Convergence/Convergence Evoked Nystagmus ; 5.2.6 Upbeat Nystagmus ; 5.2.7 Downbeat Nystagmus ; 5.2.8 Torsional Nystagmus ; 5.2.9 <"See-Saw>" Nystagmus ; 5.2.10 Lid Nystagmus ; 5.3 SACCADIC INTRUSIONS/OSCILLATIONS ; 5.3.1 Square Wave Jerks And Oscillations ; 5.3.2 Square-Wave Pulses ; 5.3.3 Staircase Saccadic Intrusions ; 5.3.4 Macrosaccadic Oscillations ; 5.3.5 Saccadic Pulses (Single And Double) ; 5.3.6 Convergence Retraction <"Nystagmus>" ; 5.3.7 Dissociated Ocular Oscillations ; 5.3.8 Dysmetric Saccades ; 5.3.9 Ocular Flutter ; 5.3.10 Flutter Dysmetria ; 5.3.11 Opsoclonus ; 5.3.11.1 Opsoclonus-Myoclonus ; 5.3.12 Superior Oblique Myokymia ; 5.3.13 Ocular bobbing ; 5.3.13.1 Typical ; 5.3.13.2 Monocular ; 5.3.13.3 Atypical ; 5.3.14 Psychogenic (Voluntary) Flutter ; Chapter 6. Afferent Visual System - Clinical Examination Procedures ; 6.1 SUBJECTIVE TESTING ; 6.1.1 Teller Acuity Card Procedure ; 6.1.2 Visual Acuity Testing (High Spatial Frequency Vision) ; 6.1.3 Stereo Testing ; 6.1.4 Color-Vision Testing ; 6.1.5 Contrast-Sensitivity Testing ; 6.1.6 Gaze- and Time-Dependent Acuity Testing ; 6.1.7 Visual Field Testing ; 6.2 OBJECTIVE TESTING ; 6.2.1 Visual Evoked Potentials ; 6.2.2 Electroretinography ; 6.2.3 Optical Coherence Tomography ; 6.2.4 Fundus Photography ; Chapter 7. Treatment ; 7.1 MEDICAL ; 7.1.1 Optical ; 7.1.1.1 Version Prisms ; 7.1.1.2 Vergence Prisms ; 7.1.1.3 Contact Lenses ; 7.1.1.4 Correction of Ammetropia/Anisometropia ; 7.1.1.5 Intraocular Lenses ; 7.1.1.6 Refractive Surgery ; 7.1.2 Pharmacological ; 7.1.2.1 Sedatives/Hypnotics ; 7.1.2.2 Neuroleptics ; 7.1.2.3 Psychoactive Medications ; 7.1.2.4 Antiseizure Medications ; 7.1.2.5 Botulinum ; 7.1.2.6 Anticholinesterases ; 7.2 EYE-MUSCLE SURGERY ; 7.2.1 General Principles ; 7.2.2 Classification ; 7.2.3 Preoperative Evaluation ; 7.2.3.1 Visual Acuity ; 7.2.3.2 Ocular Motor and Standard Clinical Evaluations ; 7.2.3.3 Strabismus ; 7.2.3.4 Eye-Movement Recordings ; 7.2.3.5 Head-Posture Measurements (<"Null Zones>") ; 7.2.3.6 Laboratory and Special Tests ; 7.2.4 Results ; 7.2.4.1 Visual Acuity ; 7.2.4.2 Strabismus ; 7.2.4.3 Eye-Movement Recordings ; 7.2.4.4 Head-Posture Measurements ; 7.2.5 Complications ; 7.3 OTHER ; 7.3.1 Biofeedback ; 7.3.2 Acupuncture ; 7.3.3 Cutaneous Stimulation ; 7.3.4 Gene Transfer Therapy ; 7.3.5 Mind-Body Stress Reduction-Mindful Medication Techniques ; 7.3.6 Occupational and Vision Therapy ; 7.3.7 Educational Assistance ; 7.4 ASSESSING THERAPEUTIC OUTCOMES (POST-THERAPY) ; 7.4.1 Direct Outcome Measures (NAFX, LFD, and Lt) ; 7.4.1.1 Post-Tenotomy & Reattachment ; 7.4.1.2 Post-Convergence/Bimedial Rectus Recession ; 7.4.1.3 Post-Four-Muscle Recession & Resection ; or Two-Muscle Recession + Tenotomy & Reattachment ; 7.4.1.4 Soft Contact Lenses ; 7.4.1.5 Systemic Acetazolamide and Topical Brinzolamide ; 7.4.2 Indirect/Clinical Outcome Measures ; 7.4.2.1 Visual Acuity at Different Gaze Angles ; 7.5 ESTIMATING THERAPEUTIC OUTCOMES (POST-THERAPY) ; 7.5.1 Direct Outcome Measures (NAFX, LFD, and Lt) ; 7.5.1.1 Tenotomy & Reattachment (INS without Afferent Visual Deficits) ; 7.5.1.2 Tenotomy & Reattachment (INS with Afferent Visual Deficits) ; 7.5.1.3 Prisms/Bimedial Rectus Recession ; 7.5.1.4 Soft Contact Lenses ; 7.5.2 Indirect/Clinical Outcome Measures ; 7.5.2.1 Visual Acuity at Different Gaze Angles ; Chapter 8. Summary and Conclusions ; Epilogue ; Appendices ; Appendix A. Eye-Movement Recording Systems and Criteria ; A.1 RECORDING METHODS ; A.1.1 Contact Electrooculography ; A.1.2 Infrared Reflection ; A.1.3 Scleral Search Coil ; A.1.4 High-Speed Video Oculography ; A.2 RESEARCH CRITERIA ; A.2.1 NAFX ; A.2.1.1 Methodology ; A.2.1.2 Estimating Visual Function Improvements ; A.3 CLINICAL CRITERIA ; A.3.1 Waveform Types ; A.3.2 Null and Neutral Zones ; A.3.3 PAN and APAN ; A.3.4 Symmetry, Conjugacy, Vergence, and Monocular Evaluation ; A.4 CALIBRATION TECHNIQUES ; A.4.1 Adults and Children ; A.4.1.1 Infantile Nystagmus ; A.4.1.2 Fusion Maldevelopment Nystagmus ; A.4.2 Infants ; Appendix B. Clinical Examination ; B.1 GENERAL CLINICAL EXAMINATION FORM ; B.2 NYSTAGMUS EXAMINATION FORM ; B.3 STRABISMUS EXAMINATION FORM ; B.4 CLINICAL PEARLS ; B.5 OPHTHALMOLOGICAL MYTHS AND FACTS ; Appendix C. Illustrative Cases and Treatment ; C.1 INFANTILE NYSTAGMUS SYNDROME ; C.1.1 Gaze-Angle Null Only ; C.1.1.1 Version Prisms ; C.1.1.2 Soft Contact Lenses ; C.1.1.3 Four-Muscle Resection, Recession, and Tenotomy & Reattachment ; C.1.1.3.1. Fine Tuning with Prisms ; C.1.1.3.2. Soft Contact Lenses ; C.1.2 Convergence Null Only ; C.1.2.1 Vergence Prisms with Negative Spheres ; C.1.2.2 Soft Contact Lenses ; C.1.2.3 Bimedial Recession ; C.1.3 Both Gaze-Angle and Convergence Nulls ; C.1.3.1 Convergence > Gaze-Angle ; C.1.3.1.1 Composite Prisms and Negative Spheres ; C.1.3.1.2 Base-out Prisms and Negative Spheres ; C.1.3.1.3 Soft Contact Lenses ; C.1.3.1.4 Bimedial Recession ; C.1.3.2 Gaze-Angle > Convergence ; C.1.3.2.1 Version Prisms ; C.1.3.2.2 Soft Contact Lenses ; C.1.3.2.3 Four-Muscle Resection, Recession and ; Tenotomy & Reattachment ; C.1.4 No Nulls ; C.1.4.1 Soft Contact Lenses ; C.1.4.2 Four-Muscle Tenotomy & Reattachment ; C.1.4.2.1 Tenotomy & Reattachment with Augmented ; Tendon Suture ; C.1.4.2.2 Augmented Tendon Suture Procedure sans ; Tenotomy & Reattachment ; C.1.4.3 Faden ; C.2 INFANTILE NYSTAGMUS PLUS STRABISMUS ; C.2.1 Gaze-Angle Null Only ; C.2.1.1 Four-Muscle Resection, Recession and Tenotomy & Reattachment ; C.2.2 Vertical and Torsional Nulls ; C.2.3 No Nulls ; C.2.3.1 Four-Muscle Tenotomy & Reattachment and Strabismus ; C.3 FUSION MALDEVELOPMENT NYSTAGMUS SYNDROME ; C.3.1 Uniocular Fixation ; C.3.2 Alternating Fixation ; C.3.3 Alexander's Law Threshold ; C.4 NYSTAGMUS BLOCKAGE SYNDROME ; C.4.1 Bimedial Recession (plus Tenotomy & Reattachment) ; C.4.2 Recession and Resection plus Tenotomy & Reattachment ; C.4.3 Four-Muscle Tenotomy & Reattachment ; Appendix D. Diagnosis and Treatment Flow Charts ; D.1 WAVEFORM-BASED DIAGNOSES ; D.2 THERAPEUTICALLY EXPLOITABLE WAVEFORM CHARACTERISTICS ; D.3 CLINICALLY BASED DIAGNOSES AND LIMITATIONS ; D.4 THERAPEUTICALLY EXPLOITABLE CLINICAL CHARACTERISTICS ; D.5 ANALYSIS GRAPHS ; Appendix E. Included Compact Disk and On-Line Access Videos ; E.1 <"EYEBALLS 3D>" EYE-MOTION AND WAVEFORM VIDEOS ; MV1 INS (PPfs) 1 cycle 1/20-speed illustrating foveation period ; MV2 INS (Jef) 4 cycles 1/3-speed with phase plane ; MV3 INS (PPfs) 3 cycles 1/2-speed illustrating well-developed foveation ; MV4 INS (PPfs) 3 cycles 1/5-speed with phase plane ; MV5 INS (PPfs) 1/2-speed 3-dimensional motion with subclinical SSN ; MV6 INS 1/5-speed Subclinical SSN motion amplified ; MV7 INS PPfs 1/2-speed from OMS model and patient ; MV8 INS (Pfs) step responses OMS model ; MV9 INS (PPfs) 1/2-speed pulse responses OMS model ; MV10 INS (PPfs) 1/2-speed OMS model ramp and step-ramp responses ; MV11 FMNS gaze-angle effect OMS model ; MV12 FMNS 1/2-speed alternate cover test OMS model ; MV13 FMNS adducting eye fixation OMS model ; MV14 INS damping with rapid convergence ; MV15 INS 1/2-speed pre-T&R ; MV16 INS 1/2-speed post-T&R ; MV17 INS 1/2-speed RPE65-deficient canine pre-gene therapy MV18 INS 1/2-speed RPE65-deficient canine pre-gene therapy scan path ; MV19 INS 1/2-speed RPE65-deficient canine post-gene therapy MV20 INS 1/2-speed RPE65-deficient canine post-gene therapy scan path ; MV21 Oscillopsia simulation ; MV22 Uniocular APN pre- and post-therapy ; MV23 INS (alternating J) OMS model ; E.1.1 PowerPoint Files ; E.1.1 E1_INS Dynamic VA ; E.1.2 E1_INS Latency Poster ; E.1.3 E1_ INS Latency ; E.1.4 E1_ INS Model Poster ; E.2 CANINE VIDEOS (PLUS OTHERS) ; CV1 Normal Brittany ; CV2 Achiasmatic Belgian Sheepdog: pre-T&R ; CV3 Achiasmatic Belgian Sheepdog: post-T&R ; CV4 RPE65-deficient canine: pre-gene therapy behavior ; CV5 RPE65-deficient canine: post-gene therapy behavior ; CV6 RPE65-deficient canine: pre-gene therapy eye movements ; CV7 RPE65-deficient canine: post-gene therapy eye movements ; CV8 Cat with INS ; CV9 Goat with SSN ; E.3 PATIENT VIDEOS ; PV1 Saccadic Initiation Failure ; PV2 Brainstem Tumor: Tonic Gaze Deviation ; PV3 Acquired Downbeat Nystagmus ; PV4 Acquired Gaze-Evoked (Gaze-Holding Failure) Nystagmus ; PV5 Acquired Unidirectional Gaze-Evoked (Gaze-Holding Failure) Nystagmus ; PV6 Ocular Motor Neuromyotonia of Cranial Nerve III ; PV7 Ocular Motor Neuromyotonia of Cranial Nerve VI ; PV8 Infant with Opsoclonus (Ocular Flutter - <"Saccadomania>") ; PV9 Acquired Saccadic Oscillations-1 ; PV10 Acquired Saccadic Oscillations-2 ; PV11Acquired Saccadic Oscillations-3 ; PV12 Acquired Nystagmus + Saccadic Oscillations ; PV13 Acquired Upbeat Nystagmus with Wiernecke's Encephalopathy ; PV14 Acquired Vertical Pendular Nystagmus ; PV15 Fusion Maldevelopment Nystagmus-1 ; PV16 Fusion Maldevelopment Nystagmus-2 ; PV17 Down Syndrome and Infantile Nystagmus ; PV18 Achiasma + See-Saw Nystagmus + Infantile Nystagmus ; PV19 Octogenarian with Infantile Nystagmus ; PV20 Infantile Nystagmus: Aperiodically Changing Intensity (Not Direction) ; PV21 Infantile Nystagmus: Aperiodically Changing Direction (Not Intensity) ; PV22 Infantile Nystagmus: Unequal-1 ; PV23 Infantile Nystagmus: Unequal-2 ; PV24 Infantile Nystagmus: Unequal-3 ; PV25 Infantile Nystagmus: Jerk with Extended Foveation ; PV26 Infantile + NOT Nystagmus: Dual Jerk ; PV27 Infantile Nystagmus: Pre- and Post-Operative ; PV28 Optic Nerve Dysplasia and Infantile Nystagmus: Multiplanar ; PV29 Infantile Nystagmus: Jerk with Extended Foveation ; PV30 Infantile Nystagmus: Unequal with a <"latent component>" ; PV31 Albinism and Infantile Nystagmus ; PV32 Optic Nerve Dysplasia and Infantile Nystagmus: Multiplanar ; PV33 Albinism, Up-gaze Null, and Infantile Nystagmus: Equal ; PV34 Retinal Dystrophy and Infantile Nystagmus: Multiplanar ; PV35 Albinism and Infantile Nystagmus: Pre- and Post-Operative Horizontal Null ; PV36 Albinism and Infantile Nystagmus: Multiplanar ; PV37 Infantile Nystagmus: Periodic Alternating ; PV38 Infantile Nystagmus: Asymmetric Aperiodic Alternating ; PV39 Albinism and Infantile Nystagmus: Pre- and Post-Operative Vertical Null ; PV40 Albinism, Up-gaze Null, and Infantile Nystagmus ; PV41 Albinism and Infantile Nystagmus ; PV42 <"Vertical>" Infantile Nystagmus-1 ; PV43 Retinal Dystrophy and <"Vertical>" Infantile Nystagmus-2 ; PV44 Spasmus Nutans Nystagmus-1 ; PV45 Spasmus Nutans Nystagmus-2 ; PV46 Voluntary Ocular Flutter ; Appendix F. Included Compact Disk and On-Line Access ; F.1 OMLAB REPORTS ; F.1.1 #011105 Recording and Calibrating the Eye Movements of Nystagmus Subjects ; F.1.2 #111005 Using the NAFX for Eye-Movement Fixation Data Analysis and Display ; F.1.3 #111905 Nystagmus Therapies: Types, Sites, and Measures ; F.1.4 #090506 Original Ocular Motor Analysis of the First Human with Achiasma: ; Documentation of Work Done in 1994 ; F.1.5 #123007 The Benefits of Extraocular Muscle Surgery in INS ; F.1.6 #030509 How Someone <"Sees>" the World and How to Clinically Assess ; Therapeutic Improvements in Visual Function ; F.2 PATIENT HANDOUTS ; F.2.1 INS Information ; F.2.2 INS Treatments ; F.2.3 Tenotomy and Reattachment ; F.2.4 INS and Acuity ; F.2.5 INS Miscellaneous ; F.3 PHYSICIAN/RESEARCH SCIENTIST WORKSHEETS ; F.3.1 Recession and Resection Surgical Calculation ; F.3.2 Estimating Improvement in Peak NAFX ; F.3.3 Estimating Improvement in LFD ; F.3.4 NAFX vs. Visual Acuity (Motor and Sensory Components) ; F.4 CLINICAL EXAMINATION FORMS ; F.4.1 General Clinical Examination Form ; F.4.2 Nystagmus Examination Form ; F.4.3 Strabismus Examination Form ; F.5 ANALYSIS SOFTWARE ; F.5.1 OMtools ; F.5.2 OMS Model GUI User Guide

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Trade ReviewGenomics and Clinical Medicine is the first textbook to comprehensively examine Medicine, especially pathophysiology and pathogenesis, through the lens of genomics. * JAMA *...written by an equally outstanding roaster of authors, deal with all aspects of Genomic Medicine. The book combines general principles, and specific aspects of clinical practice, all in the light of genome analysis and the current laboratory methodologies." * Stylianos E. Antonarakis, Professor and Chairman of Genetic Medicine, University of Geneva, President of Human Genome Organization, Geneva, Switzerland *...most physicians have had little or no training in genetics or genomics, and will be hard pressed to quickly acquire the scientific principles, the medical knowledge, and the psychosocial skills that will be necessary for the successful introduction of genomic medicine. Busy practitioners will desperately need an authoritative source of information that includes both principles and specific applications. The introduction of this textbook, with its distinguished and authoritative list of contributors, thus arrives in the nick of time. Welcome to the genome era. * Francis S. Collins, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA *...the book is a nice overview of developments in different fields of genomic medicine, written by a number of experts who give a thorough description of their argument. * European Journal of Human Genetics *Genomics and Clinical Medicine could be used during the first or second year of medical school to provide an underpinning of genomics as a unifying theme to the diverse array of topics that are typically taught at this time. * New England Journal of Medicine *This is a pioneering work of two doctors who as editors, have undertaken a monumental project, compiling a lot of relatively new knowledge put on paper by a total 50 pioneers in genomic medicine. All the authors and Drs. Kumar and Eng are to be congratulated for this unique, massive contribution to better understanding of disease so that eventually, millions of people can benefit from their work, to lead healthier lives. * Biz India Book Review *Table of ContentsPart I: Principles of Genomic Medicine ; 1. Genes, genetics and human genomics- Dhavendra Kumar ; 2. The human genome- structure and organization- Andrew P. Read ; 3. Human Proteomics- Brian Morrissey, Lisa Staunton, Stephen R Pennington ; 4. Epigenetics, Epigenomics and Human Disease- Aravind Ramesh, Cihangir Yandim, Theona Natisvili, Marta Mauri, Piu Pik Law, Jackson P.K. Chan, Santiago Uribe Lewis, Richard Festenstein ; 5. Genes, genome and developmental malformations- Dhavendra Kumar ; 6. Bioinformatics, Systems Biology and Systems Medicine- Binay Panda and Neeraja M Krishnan ; 7. Pharmacogenomics - Critical Component of Genomic Medicine- Wolfgang Sadee ; 8. New Drug Development, Drug Response, and Precision Medicines- Michelle Penny and Duncan McHale ; 9. Mitochondrial genetics and genomics in clinical medicine- Agnes Rotig and Dhavendra Kumar ; 10. Genomics Technology in Clinical Diagnostics- Kevin White ; 11. Microbial Genomics: targeted antimicrobial therapy and genome vaccines- Immaculada Margarit & Rino Rappuoli ; 12. Nutritional genomics- Zhenglong Gu, Kaixiong Ye and Patrick J. Stover ; 13. Genomics in Public and Population Health- Anastasia L. Wise and Teri A. Manolio ; 14. Genetic testing and genomic screening- Angus J. Clarke ; 15. Biobanking for genomics-based translational medicine- Steven J. Madore ; 16. Genetics and Genomics Education: The Path from Helix to Health- Reed E. Pyeritz ; 17. Ethical, Legal and Social Issues in Clinical Genomics- Caroline F. Wright, Anna Middleton & Michael Parker ; 18. The regulation of human genomics research- Jane Kaye ; Part II: Genomics in Clinical Practice ; 19. Genetic and genomic approaches to clinical medicine - Dhavendra Kumar ; 20. Genetic and genomic taxonomy of human disease - Dhavendra Kumar ; 21. Genomics of complex cardiovascular disease- Foram Ashar and Dan E. Arking ; 22. Genomics of type 2 diabetes mellitus and obesity-V. Radha and V. Mohan ; 23. Genetics and genomics of osteoporosis and related disorders- Yoshiji Yamada ; 24. Genetics and Genomics of chronic kidney disease- Albert C.M.Ong and Alexander P. Maxwell ; 25. Genetics and genomics in clinical hematology I- Hemostasis and Thrombosis- John Mcvey ; 26. Genetics and genomics in clinical hematology II- Inherited disorders of haemoglobin- David J. Weatherall ; 27. Genetics and genomics in clinical hematology III- Acute leukemias- Kenneth Mills ; 28. Genetics and Genomics of Chronic Inflammatory disorders I: Inflammatory Bowel Disease- Saad Pathan ; 29. Genetics and Genomics of Chronic Inflammatory disorders II: Rheumatoid Arthritis and Related Arthropathies- Kate McAllister and Stephen Eyre ; 30. Genetics and Genomics of Chronic Inflammatory disorders III: Bronchial asthma- William Cookson ; 31. Genetics and genomics of neuro-psychiatric diseases I: Seizure disorders - William Owen Pickrell ; 32. Genetics and genomics of neuro-psychiatric diseases II: Multiple Sclerosis- Katharine Harding and Neil Robertson ; 33. Genetics and genomics of neuro-psychiatric diseases III: The Common Dementias- Amy Gerrish, Rebecca Sims and Julie Williams ; 34. Genetics and genomics of neuro-psychiatric diseases IV: Schizophrenia and Bipolar Disorder - Jinbo Fan ; 35. Genetics and genomics of neuro-psychiatric diseases V: Learning and behavioural disorders- F Lucy Raymond ; 36. Clinical Cancer Genomics - Joanne Ngeow and Charis Eng ; 37. Genomics and Infectious diseases: Susceptibility, resistance and anti-microbial therapy-Michaela Fakiola, Wei Lu, Sarra E. Jamieson and Christopher S. Peacock ; 38. Genomic perspectives of clinical immunology- Cornelius L. Verweij ; 39. Genomic applications in Clinical Pediatrics- Vinod Varghese, Sian Morgan and Ian Frayling ; 40. Genetics and Genomics in clinical ophthalmology I: The spectrum of genetic eye disease-Graeme CM Black ; 41. Genetics and Genomics in clinical ophthalmology II: Glaucoma - Roshanak Sharafieh, Anne H. Child and Mansoor Sarfarazi ; 42. Genetics and Genomics in clinical ophthalmology III: Age-Related Macular Degeneration- Mark E. Kleinman and Jayakrishna Ambati ; 43. Genomic applications in audiological medicine- Daphne Karfunkel-Doron, Zippora Brownstein and Karen B. Avraham ; 44. Genetics and Genomics of skin diseases I: Diseases of the epidermis: eczema, psoriasis- Paul Bowen ; 45. Genetics and Genomics of skin diseases II: Genomics of pigmentation and skin cancer- Eugene Healy ; 46. The genetic and genomic practice of reproductive medicine- Dhavendra Kumar ; 47. Stem cell Genomics - Kyle M. Loh & Bing Lim & Lay Teng Ang ; 48. Genomic applications in critical care medicine- Mathew Frise, Charles Hinds & Julian Knight ; 49. Targeted molecular therapy- Mark Davies & Julian Sampson ; 50. Glossary for genetic and genomic medicine- terms, definitions and phrases- Dhavendra Kumar ; Index

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Book SynopsisThoroughly updated and revised, this new edition of the classic clinical text provides a comprehensive review of physical measurements used in the clinical evaluation of neonates, children, and adults presenting with dysmorphic features, structural anomalies, or genetic syndromes. It has been formatted as a practical manual that can be carried to the clinic or ward for an assessment of physical features and measurements.Trade Review"This is a high quality book with useful information presented in a well thoughtout and logical sequence. The handbook format provides an advantage over similar publications, allowing practitioners to carry it in the field. It provides a simple approach to areas such as craniometrics with enough detail to make it a great clinical tool." --Doody's "Very few books can compare to this work. This is clearly a must have for all observers of human morphology and the variances seen in human growth and development. ...the authors have outdone themselves with this update." Weighted Numerical Score: 100 - 5 Stars! --Doody's Health Sciences Book ReviewTable of Contents1. Introduction ; 2. Measurement ; 3. Proportional Growth and Normal Variants ; 4. Height and Length ; 5. Weight ; 6. Head Circumference (Occipitofrontal Circumference, OFC) ; 7. Craniofacies ; 8. Limbs ; 9. Chest and Trunk ; 10. Genitalia ; 11. Skin and Hair ; 12. Dermatoglyphics and Trichoglyphics ; 13. Use of Radiographs for Measurement ; 14. Developmental Data ; 15. Prenatal Ultrasound Measurements ; 16. Postmortem Organ Weights ; 17. Measurements for Specific Syndromes

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Book SynopsisKnowledge of the genetic basis of human diseases is growing rapidly, with important implications for pre-conceptional, prenatal, and predictive testing. While new genetic testing offers better insight into the causes of and susceptibility for heritable diseases, not all inherited diseases that can be predicted on the basis of genetic information can be treated or cured. Should we test everyone who wants to know his or her genetic status, even when there are no possibilities for treatment? What is the role of the right-not-to-know? Do we test children for adult onset disorders because the parents just have to know or do we respect the children''s right to choose when they are older? Do we allow commercial companies to offer genetic tests directly to consumers without the proper oversight regarding what the test results will mean? By using a creative approach that focuses on a single extended family as a case example to illustrate each chapter''s key point, the authors elucidate ethical issues arising in the genetics clinic and laboratory surrounding many timely issues, including: prenatal and pre-implantation genetic diagnosis assisted reproductive technologies incidental findings in genetic testing gene patenting testing children for adult onset disorders direct to consumer testing Ethical Dilemmas in Genetic Counseling: Principles through Case Scenarios is essential reading for anyone interested in the ethical issues surfacing in common genetics practice. Written exclusively by genetic counselors, it makes a significant contribution to the field of ethics in genetics and thus will appeal not only to genetic counselors but to physicians, nurses, and all those concerned with bioethics and social science.Trade ReviewThis collection of essays is sure to be a welcome addition to the library of anyone interested in genetics and genetics counselling. * Lauren L Baker, BA (Saint Louis University), Doody's Notes *Table of ContentsChapter 1: Introduction to Clinical Ethics - Rebecca R. Anderson ; Chapter 2: The (micro) Array of Options for Preconceptional and Prenatal Testing - Daragh Conrad and Christy ; Stanley ; Chapter 3: The "ART" of Assisted Reproductive Technologies - Sonja Eubanks Higgins ; Chapter 4: Testing Children for Adult Onset Conditions - Dawn Allain ; Chapter 5: These are Not the Genes You're Looking For: Incidental Findings Identified as a Result of Genetic Testing - Curtis Coughlin II ; Chapter 6: Is That a Threat or a Promise? Direct-to-Consumer Marketing of Genetic Testing - Laura Hercher ; Chapter 7: Genetics and Patent Law - Rebecca R. Anderson ; Chapter 8: Ethical Issues in Genetic and Genomic Research - Dawn Allain and Kelly Ormond

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Book SynopsisIn a series of case studies, Charles L. Bosk reveals the process by which parents, physicians and other health professionals come to guide decisions about pregnancies. This is a pioneering study of authority and control in a pediatric hospital, showing how genetic counsellors work with colleagues and with parents to be.

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Book SynopsisShort-listed for the Society of Biology Book Award 2014 Long-listed for the Royal Society Winton prize for science books 2014In The Compatibility Gene, leading scientist Daniel M Davis tells the story of the crucial genes that define our relationships, our health and our individuality. We each possess a similar set of around 25,000 human genes. Yet a tiny, distinctive cluster of these genes plays a disproportionately large part in how our bodies work. These few genes, argues Davis, hold the key to who we are as individuals and our relationship to the world: how we combat disease, how our brains are wired, how attractive we are, even how likely we are to reproduce.The Compatibility Gene follows the remarkable history of these genes'' discovery. From the British scientific pioneers who struggled to understand the mysteries of transplants to the Swiss zoologist who devised a new method of assessing potential couples'' compatibility based on the smell of worn T-shirts, Davis traces a true scientific revolution in our understanding of the human body: a global adventure spanning some sixty years.''Unusual results, astonishing implications and ethical dilemmas'' The Times''Packed with an insider''s knowledge'' New York Times''He makes immunology as fascinating to popular science readers as cosmology, consciousness, and evolution'' Steven Pinker''An elegantly written, unexpectedly gripping account'' Bill Bryson Guardian, Books of the Year Daniel M Davis is director of research at the University of Manchester''s Collaborative Centre for Inflammation Research and a visiting professor at Imperial College, London. He has published over 100 academic articles, including papers in Nature and Science, and Scientific American. He has won the Oxford University Press Science Writing Prize and given numerous interviews for national and international media. He was elected a Fellow of the Academy of Medical Sciences in 2011.Trade ReviewWho am I? What makes me different from everyone else? Daniel Davis recounts the remarkable science that has answered one version of these questions -- Steven PinkerOstensibly about a set of genes that we all have and need, this book is really about the men and women who discovered them and worked out what they do. It's a search for the essence of scientific greatness by a scientist who is headed that way himself -- Armand Marie Leroi, author of 'Mutants'The Compatibility Gene cuts through the complexity to reveal the startling truth about perhaps the most important section of the molecule that defines what it means to be human -- Steve Jones, author of 'Almost Like A Whale'Davis weaves a warm biographical thread through his tale of scientific discovery, revealing the drive and passion of those in the vanguard of research * The Times *Davis makes the twists and turns all count * Guardian *Davis ranges energetically through the research. Cultural references and anecdotes abound * Nature *A fascinating, expertly told story -- Michael Brooks * New Statesman *The genes that make you a true individual ... Davis provides a well-written and easy-to-read account of the sometimes complicated biology behind the crucial genes that affect our lives so profoundly * New Scientist *Wonderful pen-portraits of the many scientists involved in this fast-moving field ... 5 out of 5 stars -- Henry Gee * BBC Focus magazine *Dr. Davis's readable and informative book takes the reader into unexpectedly interesting corners of both the immune system and the lives of immunologists. It is packed with an insider's knowledge - not just of the field, but of where its bodies are buried -- Nicholas Wade * New York Times *An elegantly written, unexpectedly gripping account of how scientists painstakingly unravelled the way in which a small group of genes ... crucially influence, and unexpectedly interconnect, various aspects of our lives... Lab work has rarely been made to seem more interesting or heroic -- Bill Bryson * Guardian, Books of the Year 2013 *

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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 SynopsisAdvocates a conversation around the genetic risk for breast and ovarian cancers that focuses less on choice and more on care. Offers a new set of conceptual starting points for understanding what is at stake with a BRCA diagnosis and what the focus on choice obstructs from view. Trade Review“This book is groundbreaking, not only for scholars interested in women’s health, or health or science studies more generally, but also for rhetorical scholars and (post)humanists.”—Celeste M. Condit,author of Angry Public Rhetorics: Global Relations and Emotion in the Wake of 9/11“Being at Genetic Risk delves deeply into Mol’s concept of ‘logic of care’; set in the context of the risk of a genetic disease (rather than focusing on patients living with a disease or a difficult-to-define symptom), this adds in significant and interesting ways to the conversation.”—Jodie Nicotra,University of Idaho“Kelly Pender’s Being at Genetic Risk: Toward a Rhetoric of Care makes an important contribution to scholarship in the rhetoric of health and medicine (RHM); rhetoric of science, technology, and medicine (RSTM); and rhetoric more broadly. The book does so by taking on the important task of questioning critiques ‘debunking’ social creations that dupe naïve people into believing their reality.”—Cathryn Molloy Rhetoric Review

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Book SynopsisOutlines the laboratory diagnosis of a selected number of diseases which have relatively high incidence and existing screening programs.

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Book SynopsisNew reproductive technologies enable parents to select some genetic traits for their children, and soon it will be possible to begin to shape ourselves as a species. Despite the loud cries of alarm that such a prospect inspires, the author argues that we will, and we should, undertake the direction of our own evolution.Trade Review"'In this clear-eyed and generally optimistic book, both promise and risk are ably weighed and balanced. The science is clearly explained, and there are signposts to help guide us through the moral maze.' Economist"

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Book SynopsisA groundbreaking medical and social history of a devastating hereditary neurological disorder once demonized as “the witchcraft disease”Trade ReviewWinner of the 2009 American Medical Writers Association Medical Book Award in the Healthcare Professionals (non-physician) category, given by the American Medical Writers Association.“Wexler provides an accessible account of a disease in history. A richness of context gives her study its strength and character.”—Charles E. Rosenberg, Harvard University“This is a remarkable story of ‘St. Vitus' Dance’ (Huntington's Chorea) from many perspectives: personal, historical and social. Its meticulous history, drawn from archives and personal experience details how this late-onset hereditary disease was viewed not only medically but personally and socially by family members, neighbors and friends of afflicted individuals. This is a must read for anyone interested in the social history and policy surrounding hereditary disease.”—Garland Allen, Washington University in St. Louis“This book is an engaging chronicle of how the lived experience of illness in a family and community transforms over centuries into an intensely monitored and medicalized hereditary disease. Wexler does what historians do best: she folds what we take now to be a straightforward phenomenon, Huntington’s disease, back into the story of its making. By doing so, she tells us something profound about how we imagine ourselves and how we are connected to one another.”—Rosemarie Garland-Thomson, author of Extraordinary Bodies: Figuring Physical Disability in American Literature and Culture“A brave and pioneering work.”—Daniel Kevles, author of In the Name of Eugenics: Genetics and the Uses of Human Heredity “Alice Wexler has once again accomplished the near impossible by writing a fascinating academic page-turner. Filled with truth and brilliance throughout, The Woman Who Walked into the Sea is an amazing book that leaves the reader not only better informed, but materially enriched, moved by the experience, and not wanting it to end.”—Carole Browner, University of California, Los Angeles

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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 SynopsisThis text provides a systematic approach to the diagnosis of children with multiple birth defects. It outlines the embryologic origins of normal and abnormal physical development, describes the major and minor structural anomalies in each of 20 anatomic regions, and teaches techniques of observation and synthesis useful in dysmorphologic diagnosis. Medical specialists will find Dr. Aase''s book invaluable both as an instructive tool and as a clinical reference guide.Table of ContentsPrinciples of Normal and Abnormal Embryogenesis. A Dysmorphologic Approach to the Child with Birth Defects. Obtaining a Dysmorphologic History. Physical Examination by Body Region. Arriving at a Dysmorphologic Diagnosis. Index.

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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 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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