Cystic fibrosis used to be thought of as a respiratory and digestive disease, with a uniformly and rapidly fatal outcome. The spectrum of the disease has broadened into the mild atypical case, presenting in middle age, with the potential for complications in virtually every system of the body. In the past few years there has been an explosion of knowledge of the basic science of the defect. The editors have therefore invited the leading scientists and clinicians in the field of cystic fibrosis to describe the recent advances in this disease. Although there are many 'Recent Advances' texts, previous books have been selective in their choice of topics. This book is the first to cover the entire field of this complex disease, and encompasses the rapidly moving topics of the basic molecular and cellular biology as well as the recent multi-system, multi-disciplinary advances in the clinical care of patients. The authors have been charged with writing only about new developments and not to rehash old literature. The bulk of the references is therefore less than five years old. This book addresses all professionals who treat cystic fibrosis and want to have an up-date of new findings in the field, particularly of those outside their immediate specialisation. It will also be useful for basic researchers interested in related scientific areas and the clinical context of their work.

Cystic fibrosis is a lifestyle disease. Very few people on the West are aware that there are many Russians with CF (cystic fibrosis) who are over 50 and even 60 years old due to their adherence to one medical therapy that was developed and practiced by over 150 Soviet and Russian medical doctors. Since 1960s, these MDs have applied the Buteyko breathing therapy to increase body oxygen levels, and these doctors claim that people with CF can have at least normal (or average) life expectancy if their maintain high (or normal) body O2 content. You will not find such information in any other cystic fibrosis books. Cystic fibrosis life expectancy has been steadily growing for many decades. In late 1930s, most babies with CF died before their first birthday. Later, in the 1950s, CF life expectancy was less than 10 years. Soon after, due to use of various therapies, it increased from 14 years (in the 1980s) up to current 35-37 years. Some researchers, in their cystic fibrosis books, predict that babies born with CF during this century can live up to their 50s. But a group of Russian doctors claim that main symptoms of CF can be defeated. My own experience, in successful elimination of major symptoms of CF in my students, also suggests the same conclusions. These breathing methods address lifestyle factors that influence body O2 and use breathing exercises to increase body oxygenation. The book offers a detailed description of main lifestyle modules that increase body O2 naturally and significantly reduce many symptoms of CF (e.g., coughing, too much mucus, wheezing, and various digestive concerns) within days. How and why can these therapies work? CF is considered a genetic disease. So is asthma, or Down syndrome. Not all genetic diseases are the same. Many of them, CF included, are also lifestyle diseases meaning that lifestyle choices have a direct impact on quality of life (and CF life expectancy). Western medical studies clearly proved that tissue hypoxia (low O2 in cells) creates problems in the work of tiny ionic pumps that transport chemicals (sodium, chlorine and water) across the epithelial layers. This negative effect of hypoxia is present even in healthy people, but more expressed in people with CF due to the presence of the defective CFTR gene. Each and every study that measured respiratory parameters in people with CF found too fast and deep breathing (hyperventilation) in comparison with the medical norm (that is tiny). There are two long-term scenarios due to overbreathing. Either we get low CO2 levels in the blood (this causes spasm of blood vessels and reduced body O2) or we destroy our airways and lungs due to injurious effects of hypocapnia. In any scenario (with and without lung involvement), hyperventilation leads to low O2 levels in cells. Low cellular O2 causes formation of too thick and viscous mucus. Cell hypoxia also suppresses the immune system. Both factors promote growth of pathogens in people with CF in the respiratory and digestive systems, while other organs and body parts are also under physiological and biochemical stress due to low O2 in cells. Other factors, such as chronic mouth breathing and chest breathing, also reduce body O2 and make any treatment of CF less effective. Therefore, the suggested medical therapy, in order to increase CF life span, is to slow down automatic breathing back to the medical norm and increase body O2 naturally. Clinical experience of Buteyko breathing MDs in Russia suggests that results of a simple body O2 test predict cystic fibrosis life expectancy. People with moderate degree of CF usually have only about 15-20 seconds or less for their body oxygen test, while the medical norm is 40 seconds. In terminally ill people (with CF and many other disorders) body O2 is less than 10 seconds. With over 40 seconds for the body O2 test, a person with CF can eliminate all symptoms and have an average life expectancy.

Winner of the History of Science category of the Professional and Scholarly Publishing Awards given by the Association of American Publishers Why do racial and ethnic controversies become attached, as they often do, to discussions of modern genetics? How do theories about genetic difference become entangled with political debates about cultural and group differences in America? Such issues are a conspicuous part of the histories of three hereditary diseases: Tay-Sachs, commonly identified with Jewish Americans; cystic fibrosis, often labeled a "Caucasian" disease; and sickle cell disease, widely associated with African Americans. In this captivating account, historians Keith Wailoo and Stephen Pemberton reveal how these diseases—fraught with ethnic and racial meanings for many Americans—became objects of biological fascination and crucibles of social debate. Peering behind the headlines of breakthrough treatments and coming cures, they tell a complex story: about different kinds of suffering and faith, about unequal access to the promises and perils of modern medicine, and about how Americans consume innovation and how they come to believe in, or resist, the notion of imminent medical breakthroughs. With Tay-Sachs, cystic fibrosis, and sickle cell disease as a powerful backdrop, the authors provide a glimpse into a diverse America where racial ideologies, cultural politics, and conflicting beliefs about the power of genetics shape disparate health care expectations and experiences.

Recommended by Bill Gates and included in GatesNotes "Elaborating on the science as well as the business behind the fight against cystic fibrosis, Trivedi captures the emotions of the families, doctors, and scientists involved in the clinical trials and their 'weeping with joy' as new drugs are approved, and shows how cystic fibrosis, once a 'death sentence,' became, for many, a manageable condition. This is a rewarding and challenging work." —Publishers Weekly Cystic fibrosis was once a mysterious disease that killed infants and children. Now it could be the key to healing millions with genetic diseases of every type—from Alzheimer's and Parkinson's to diabetes and sickle cell anemia. In 1974, Joey O'Donnell was born with strange symptoms. His insatiable appetite, incessant vomiting, and a relentless cough—which shook his tiny, fragile body and made it difficult to draw breath—confounded doctors and caused his parents agonizing, sleepless nights. After six sickly months, his salty skin provided the critical clue: he was one of thousands of Americans with cystic fibrosis, an inherited lung disorder that would most likely kill him before his first birthday. The gene and mutation responsible for CF were found in 1989—discoveries that promised to lead to a cure for kids like Joey. But treatments unexpectedly failed and CF was deemed incurable. It was only after the Cystic Fibrosis Foundation, a grassroots organization founded by parents, formed an unprecedented partnership with a fledgling biotech company that transformative leaps in drug development were harnessed to produce groundbreaking new treatments: pills that could fix the crippled protein at the root of this deadly disease. From science writer Bijal P. Trivedi, Breath from Salt chronicles the riveting saga of cystic fibrosis, from its ancient origins to its identification in the dank autopsy room of a hospital basement, and from the CF gene's celebrated status as one of the first human disease genes ever discovered to the groundbreaking targeted genetic therapies that now promise to cure it. Told from the perspectives of the patients, families, physicians, scientists, and philanthropists fighting on the front lines, Breath from Salt is a remarkable story of unlikely scientific and medical firsts, of setbacks and successes, and of people who refused to give up hope—and a fascinating peek into the future of genetics and medicine.

The first broad survey of these two fields, this book deleniates a framework for integrating advances in human genetics into public health practice.

This manual combines research principles with practical guidelines for the clinical care of adult cystic fibrosis patients. There are discussions of clinical manifestations, pathophysiology, treatment options, patient management problems, and progress in developing new therapies. The work takes a multidisciplinary perspective, combining views from specialists in cystic fibrosis pathophysiology, pulmonology, cardiovascular disease, and gastroenterology. It also delivers key facts on disease manifestations at the molecular, cellular, tissue and organ system levels.

Intimate and medicalized, natural and technological, reproduction poses some of the most challenging ethical dilemmas of our time. This volume brings together scholars from multiple perspectives to address both traditional and novel questions about the rights and responsibilities of human reproducers, their caregivers, and the societies in which they live.