In The Genome Odyssey, Dr. Euan Ashley, Stanford professor of medicine and genetics, brings the breakthroughs of precision medicine to vivid life through the real diagnostic journeys of his patients and the tireless efforts of his fellow doctors and scientists as they hunt to prevent, predict, and beat disease. Since the Human Genome Project was completed in 2003, the price of genome sequencing has dropped at a staggering rate. It’s as if the price of a Ferrari went from $350,000 to a mere forty cents. Through breakthroughs made by Dr. Ashley’s team at Stanford and other dedicated groups around the world, analyzing the human genome has decreased from a heroic multibillion dollar effort to a single clinical test costing less than $1,000. For the first time we have within our grasp the ability to predict our genetic future, to diagnose and prevent disease before it begins, and to decode what it really means to be human. In The Genome Odyssey, Dr. Ashley details the medicine behind genome sequencing with clarity and accessibility. More than that, with passion for his subject and compassion for his patients, he introduces readers to the dynamic group of researchers and doctor detectives who hunt for answers, and to the pioneering patients who open up their lives to the medical community during their search for diagnoses and cures. He describes how he led the team that was the first to analyze and interpret a complete human genome, how they broke genome speed records to diagnose and treat a newborn baby girl whose heart stopped five times on the first day of her life, and how they found a boy with tumors growing inside his heart and traced the cause to a missing piece of his genome. These patients inspire Dr. Ashley and his team as they work to expand the boundaries of our medical capabilities and to envision a future where genome sequencing is available for all, where medicine can be tailored to treat specific diseases and to decode pathogens like viruses at the genomic level, and where our medical system as we know it has been completely revolutionized.
Around 60,000 years ago, a man—genetically identical to us—lived in Africa. Every person alive today is descended from him. How did this real-life Adam wind up as the father of us all? What happened to the descendants of other men who lived at the same time? And why, if modern humans share a single prehistoric ancestor, do we come in so many sizes, shapes, and races? Examining the hidden secrets of human evolution in our genetic code, Spencer Wells reveals how developments in the revolutionary science of population genetics have made it possible to create a family tree for the whole of humanity. Replete with marvelous anecdotes and remarkable information, from the truth about the real Adam and Eve to the way differing racial types emerged, The Journey of Man is an enthralling, epic tour through the history and development of early humankind.
The year 2001 marked more than just the beginning of Stanley Kubrick's Space Odyssey, it marked the beginning of the genome era. That was the year scientists first read the 3 billion letters of DNA that make up the human genome. This was followed by a veritable Noah's Ark of genomesandmdash;sponges and worms, dogs and cows, rice and wheat, chimps and elephantsandmdash;180 creatures aboard so far. So what have we learned from all this? How has it changed the way we practise medicine, grow crops and breed livestock? What have we learned about evolution? These are the questions science writer and molecular biologist Elizabeth Finkel asked herself four years ago. To find the answers she travelled the science frontier from Botswana to Boston, from Warracknabeal to Mexico and tracked down scientists working in the field. Their stories, told here, paint the picture of what it means to be part of the genome generation. 'The Genome Generation is absolutely riveting. These tales from the frontier are a 'must read' for everyone who wishes to understand our pastandmdash;the logic of evolutionandmdash;or take a peep into our exciting future at the creation of 'super plants' through 'digital agriculture'.'andmdash;R.A. Mashelkar, CSIR Bhatnagar Fellow and India President, Global Research Alliance
The genetic information being unlocked by advances in genomic and high throughput technologies is rapidly revolutionizing our understanding of developmental processes in bovine species. This information is allowing researchers unprecedented insight into the genetic basis of key traits. Bovine Genomics is the first book to bring together and synthesize the information learned through the bovine genome sequencing project and look at its practical application to cattle and dairy production. Bovine Genomics opens with foundational chapters on the domestication of cattle and traditional Mendelian genetics. Building on these chapters, coverage rapidly moves to quantitative genetics and the advances of whole genome technologies. Significant coverage is given to such topics as epigenetics, mapping quantitative trail loci, genome-wide association studies and genomic selection in cattle breeding. The book is a valuable synthesis of the field written by a global team of leading researchers. Providing wide-ranging coverage of the topic, Bovine Genomic, is an essential guide to the field. The basic and applied science will be of use to researchers, breeders, and advanced students.
Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. - Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management - Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study - Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management - Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems
"This is truly a major contribution — brilliant, beguiling, and as broad in concept as it is deep." — Jean Houston, PhD, author of The Possible Human Thomas Armstrong, Ph.D., an award-winning educator and expert on human development, offers a cross-cultural view of life's entire journey, from before birth to death to the possibilities of an afterlife. Dr. Armstrong cites both clinical research and anecdotal evidence in a comprehensive view of the challenges and opportunities we face at every stage of our development. His accessible narrative incorporates elements of history, literature, psychology, spirituality, and science in a fascinating guide to understanding our past as well as our future. "I loved the tone, the pacing, the sense of audience, and especially the richness of the associations . . . It's a book that one would like to keep around — a guidebook even." — John Kotre Ph.D., co-author of Seasons of Life: The Dramatic Journey from Birth to Death "The Human Odyssey is superb, magnificent, astonishing, unique, engrossing, eminently readable, informative, enjoyable, entertaining, profound. What else? I could go on. I hadn't expected anything like so remarkable a book." — Joseph Chilton Pearce, author of The Crack in the Cosmic Egg and Magical Child "I have read through The Human Odyssey. It is in many ways impressive. I also think that it has great commercial potential. Many people will find attractive your dual focus on the scientific and the soul/spiritual dimensions." — Howard Gardner, Ph.D., The John H. and Elizabeth A. Hobbs Professor in Cognition and Education at the Harvard Graduate School of Education, author of Frames of Mind "I extend my congratulations to you for this monumental undertaking and wish you the very best for your impressive efforts." — Marian Diamond, Ph.D. Professor, Department of Integrative Biology, University of California, Berkeley; co-author of Magic Trees of the Mind; pioneer researcher into the effect of the environment on brain development; dissected Einstein's brain "I very much enjoyed The Human Odyssey. Your breadth of sources is remarkable, and you have put them all together in a smooth and integrative way. I think it will be informative for people, and also inspiring for them to make their stages of life more meaningful. Overall, this is an impressive tour de force." — Arthur Hastings, Ph.D., Professor and Director, William James Center for Consciousness Studies, Institute of Transpersonal Psychology; Past President, Association of Transpersonal Psychology "Extraordinary. I hope that it is read by many people." — Laura Huxley, widow of Aldous Huxley, founder of Children: Our Ultimate Investment, and author of This Timeless Moment, and The Child of Your Dreams "A wonderful and encyclopedic summary of human development." — Allan B. Chinen, M.D., Clinical Professor of Psychiatry, University of California, San Francisco; author of Once Upon a Mid-Life: Classic Stories and Mythic Tales to Illuminate the Middle Years and In the Ever After: Fairy Tales and the Second Half of Life "Absolutely remarkable. The Human Odyssey is written with lively scholarship and contains great depth and breadth, a wide range of fascinating materials, and many useful resources. It's a kind of 'everything book.'" — George Leonard, "the granddaddy of the consciousness movement" (Newsweek) and author of The Transformation and The Ultimate Athlete "The Human Odyssey provides readers with a fresh approach to developmental psychology. Dr. Armstrong has included a spiritual dimension of human growth that is lacking from most accounts but which is essential for a complete understanding of the human condition. It is a splendid, brilliant work." — Stanley Krippner, Ph.D., former president of the Association for Humanistic Psychology, author of Personal Mythology: The Psychology of Your Evolving Self, and co-editor of The Psychological Impact of War Trauma on Civilians: An International Perspective "An integral approach to human development, from birth to death, that provides practical information for all who see spirit interpenetrating all of life." — Michael Murphy, co-founder of the Esalen Institute and author of The Future of the Body, The Life We Are Given, and God and the Evolving Universe "This is a thoroughly researched and beautifully written account of the story of human development. Drawing on the most recent scientific studies, as well as literature and films, mythology and major spiritual traditions, Armstrong shows the way to a truly integrated understanding of the complexities of the human life cycle." — Ralph Metzner, Ph.D., author of Maps of Consciousness and The Unfolding Self, co-author (with Timothy Leary and Richard Alpert) of The Psychedelic Experience, which was the inspiration for the Beatles' song "Tomorrow Never Knows" "I loved this book. What a vast terrain it covers! I enjoyed the way it wove into each developmental stage a rich array of materials from Greek myths, Martin Buber, psychology, rituals, spirituality, and so many wonderful stories. As people read this book, they will be much more aware of the different stages of life and how they impact all of us personally and collectively." — Barbara Findeisen, President, The Association for Pre- & Perinatal Psychology and Health and creator of the documentary film, The Journey to Be Born, featured on Oprah - "I'm awestruck! This looks like the most important book of the century." — Jan Hunt, author of The Natural Child: Parenting from the Heart; member of the board of directors of the Canadian Society for the Prevention of Cruelty to Children "The Human Odyssey is just that: a tour de force by one of the leading experts in whole person development. I've never before seen such a comprehensive and readable work on the many stages that we humans go through on our journey through this life." — John W. Travis, M.D., founder of the first wellness center in the United States in 1975, co-author of Wellness Workbook, and co-founder of Alliance for Transforming the Lives of Children. - "Thomas Armstrong's The Human Odyssey is an extraordinary book; an intellectual feast. Armstrong has amassed and integrated an amazing amount of information from developmental and transpersonal psychology, modern consciousness research, biology, anthropology, mythology, and art, and created an extraordinary guide through all the stages of the adventure of human life. While the rich content of this book will impress professional audiences, it's clear and easy style makes it quite accessible to the general public." — Stanislav Grof, M.D., former Chief of Psychiatric Research, Maryland Psychiatric Research Center; author of Realms of the Human Unconscious, Beyond the Brain: Birth, Death, and Transcendence in Psychotherapy and Adventures in Self-Discovery "Thomas Armstrong has written a brilliant, caring and beautiful book on the human lifecycle. Such an all-inclusive book is rare and adds a sense of the wholeness of life, into and beyond death, in the mere reading of it." — Stuart Sovatsky, Ph.D., author of Words From the Soul, Your Perfect Lips and Eros, Consciousness and Kundalini, and co-President of the Association of Transpersonal Psychology. "I cannot imagine anyone who will not benefit from this wise, beautifully written description of life's journey. If you are looking for encouragement, understanding, and strength, this is your book." — Larry Dossey, M.D., author of The Extraordinary Power of Ordinary Things and Healing Words "A beautiful compilation of world wisdom. Well written and inspiring." — James Fadiman, Ph.D., co-Founder, Institute for Transpersonal Psychology and author of The Other Side of Haight "Armstrong synthesizes an enormous amount of material from many fields and wisdom traditions to create a book that is fresh, provocative, and important. His holistic approach presents us with the largest possible map as we navigate across our own lives. Bravo, captain." — Mary Pipher, author of Writing to Change the World and Reviving Ophelia "Thomas Armstrong is an original thinker whose perceptions broaden our understanding of children, education and society. In The Human Odyssey, Armstrong provides a comprehensive framework for human development with characteristic depth and optimism." — Peggy O'Mara, Editor and Publisher of Mothering Magazine "This is truly a major contribution — brilliant, beguiling, and as broad in concept as it is deep." — Jean Houston, Ph.D. author of The Possible Human
Data in the genomics field is booming. In just a few years, organizations such as the National Institutes of Health (NIH) will host 50+ petabytes—or over 50 million gigabytes—of genomic data, and they’re turning to cloud infrastructure to make that data available to the research community. How do you adapt analysis tools and protocols to access and analyze that volume of data in the cloud? With this practical book, researchers will learn how to work with genomics algorithms using open source tools including the Genome Analysis Toolkit (GATK), Docker, WDL, and Terra. Geraldine Van der Auwera, longtime custodian of the GATK user community, and Brian O’Connor of the UC Santa Cruz Genomics Institute, guide you through the process. You’ll learn by working with real data and genomics algorithms from the field. This book covers: Essential genomics and computing technology background Basic cloud computing operations Getting started with GATK, plus three major GATK Best Practices pipelines Automating analysis with scripted workflows using WDL and Cromwell Scaling up workflow execution in the cloud, including parallelization and cost optimization Interactive analysis in the cloud using Jupyter notebooks Secure collaboration and computational reproducibility using Terra
An influential geneticist traces his investigation into the genes of humanity's closest evolutionary relatives, explaining what his sequencing of the Neanderthal genome has revealed about their extinction and the origins of modern humans.
“A riveting scientific detective story” (The Washington Post) by two Pulitzer Prize–winning journalists who chronicle a young Wisconsin boy with a never-before-seen disease and the doctors who save his life by taking a new step into the future of medicine. In this landmark medical narrative, Pulitzer Prize-winning journalists Mark Johnson and Kathleen Gallagher share the story of Nic Volker, the first patient to be saved by a bold breakthrough in medicine—a complete gene sequencing, aimed at finding the cause of an otherwise undiagnosable illness. At just two years old, Nic experienced a brief flicker of pain that signaled the awakening of a new and deadly disease, one that would hurl him and his family into a harrowing journey in search for a lifesaving cure. After his symptoms stump every practitioner, it becomes clear that Nic’s is a one in a billion case, a disease that no one has ever seen before. As Nic and his family search for answers, the scientific community is racing to bring about the next revolution in medicine—translating results from the Human Genome Project to treatments for actual patients. At the forefront is the brilliant geneticist Howard Jacob, who starts a lab at the Medical College of Wisconsin. Then Nic’s head physician reaches out to Jacob with an unprecedented of idea. A disease like Nic’s is likely due to a rare mutation: if they could sequence his genes to try to find the mutation, the boy might live. Jacob doesn’t know if he can do it; Nic’s doctors don’t know if it will even work; and no one knows what else might lie in the Pandora’s Box of Nic’s genome. But they decide to try—and in doing so, they step into a new era of medicine. One in a Billion is “a compelling story of a modern medical miracle—the first instance of personalized medicine” (Milwaukee Journal Sentinel) and the birth of a scientific revolution.
Economic Evaluation in Genomic Medicine introduces health economics and economic evaluation to genomic clinicians and researchers, while also introducing the topic to health economists. Each chapter includes an executive summary, questions, and case studies, along with supplementary online materials, including process guides, maps, flow charts, diagrams, and economic evaluation spreadsheets to enhance the learning process. The text can easily be used as course material for related graduate and undergraduate courses, providing a succinct overview of the existing, state-of-the-art application of economic evaluation to genomic healthcare and precision medicine. - Interrelates economic evaluation and genomic medicine - Instructs healthcare professionals and bioscientists about economic evaluation in genomic medicine - Teaches health economists about application of economic evaluation in genomic medicine - Introduces health economics and economic evaluation to clinicians and researchers involved in genomics - Includes process guides, maps, flow charts and diagrams
