Written by internationally recognized experts in the field, the 44 chapters that constitute this edited volume provide the reader with a broad overview of the clinical features of the disease, the structure and expression of the NF1 gene, its germ line and somatic mutational spectra and genotype-phenotype relationships, the structure and function of its protein product (neurofibromin), NF1 modifying loci, the molecular pathology of NF1-associated tumours, animal models of the disease, psycho-social aspects and future prospects for therapeutic treatment.
The book will present information on all aspects of FXTAS, FXPOI and other premutation disorders including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed.
The individual contributions, based on seven international workshops on the history of human genetics, cover a diverse range of topics, including the early years of the discipline, gene mapping and diagnostics. Further, they discuss the status quo of human genetics in different countries and highlight the value of genetic counseling as an important subfield of medical genetics.
The Molecular Genetics of Lung Cancer describes how the new techniques, methods and approaches of molecular genetics are being used to unravel the complexities of the mechanisms underlying lung tumorigenesis by analysis at the DNA, RNA and protein levels with potentially important implications for tumour classification, diagnosis, prognosis and treatment as well as providing new insights into how lung tumours arise and how they progress to malignancy.
You're already living it.
Was diabetes evolution's response to the last Ice Age? Did a deadly genetic disease help our ancestors survive the bubonic plagues of Europe? Will a visit to the tanning salon help lower your cholesterol? Why do we age? Why are some people immune to HIV? Can your genes be turned on -- or off?
Joining the ranks of modern myth busters, Dr. Sharon Moalem turns our current understanding of illness on its head and challenges us to fundamentally change the way we think about our bodies, our health, and our relationship to just about every other living thing on earth, from plants and animals to insects and bacteria.
Through a fresh and engaging examination of our evolutionary history, Dr. Moalem reveals how many of the conditions that are diseases today actually gave our ancestors a leg up in the survival sweepstakes. When the option is a long life with a disease or a short one without it, evolution opts for disease almost every time.
Everything from the climate our ancestors lived in to the crops they planted and ate to their beverage of choice can be seen in our genetic inheritance. But Survival of the Sickest doesn't stop there. It goes on to demonstrate just how little modern medicine really understands about human health, and offers a new way of thinking that can help all of us live longer, healthier lives.
Survival of the Sickest is filled with fascinating insights and cutting-edge research, presented in a way that is both accessible and utterly absorbing. This is a book about the interconnectedness of all life on earth -- and, especially, what that means for us.
The phone rings. The doctor from California is on the line. “Are you ready Amanda?” The two people Amanda Baxley loves the most had begged her not to be tested—at least, not now. But she had to find out.
If your family carried a mutated gene that foretold a brutal illness and you were offered the chance to find out if you’d inherited it, would you do it? Would you walk toward the problem, bravely accepting whatever answer came your way? Or would you avoid the potential bad news as long as possible?
In Mercies in Disguise, acclaimed New York Times science reporter and bestselling author Gina Kolata tells the story of the Baxleys, an almost archetypal family in a small town in South Carolina. A proud and determined clan, many of them doctors, they are struck one by one with an inscrutable illness. They finally discover the cause of the disease after a remarkable sequence of events that many saw as providential. Meanwhile, science, progressing for a half a century along a parallel track, had handed the Baxleys a resolution—not a cure, but a blood test that would reveal who had the gene for the disease and who did not. And science would offer another dilemma—fertility specialists had created a way to spare the children through an expensive process.
A work of narrative nonfiction, Mercies in Disguise is the story of a family that took matters into its own hands when the medical world abandoned them. It’s a story of a family that had to deal with unspeakable tragedy and yet did not allow it to tear them apart. And it is the story of a young woman—Amanda Baxley—who faced the future head on, determined to find a way to disrupt her family’s destiny.