The Genome Odyssey

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.

The future of medicine is already here. Dr. Euan Ashley, Stanford professor of medicine and genetics, leads the charge with his contributions to the practice of precision medicine, a concept that has already sparked massive improvements in the way doctors diagnose, treat, and prevent disease, and will continue to make a meaningful difference for anyone dealing with serious illness. In The Genome Odyssey, Dr. Ashley brings to vivid life the advancements his team has made in the field of genetic medicine. He shares the real diagnostic journeys of patients as their incredibly rare diseases are identified and effective treatment plans determined. The secret to Dr. Ashley’s breakthroughs? His team was the first to successfully analyze a complete human genome. In fact, they hold the world record for the fastest genome sequencing at five hours and two minutes. With this capability to analyze their patients’ full genetic makeup, Dr. Ashley’s team is able to predict a patient’s genetic future and to diagnose and, in some cases, prevent disease before it even begins. The Genome Odyssey unfolds like a thrilling medical mystery and points us towards 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. Destined to become a classic work of modern science, The Genome Odyssey illustrates the groundbreaking hunt to prevent, predict, and possibly even defeat disease.

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, the author 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, this book 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

“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.

Drawing links between genetic and cultural development, Cavalli-Sforza developed groundbreaking techniques to trace the evolution of Homo sapiens and the origins of human differentiation, in addition to his earlier work in bacterial genetics. He is also the founder of the Human Genome Diversity Project and continues to work as the principal investigator at Stanford University's Human Population Genetics Laboratory. Based on extensive research and interviews with Cavalli-Sforza and his colleagues, this biography examines the scientist's life and his immense and occasionally controversial contributions to genetics, anthropology, and linguistics.