This wide-ranging work examines the role of science in modern medicine, in the past and present, and looks at what we can expect from scientific research in the future.

Science and the Quiet Art: Medical Research and Patient Care

Weatherall, David

Health, Fitness & Dieting

Oxford University Press

Science and the Quiet Art : Medical Research and Patient Care

An important milestone in medicine has been the recent completion of the Human Genome Project. The identification of 30,000 genes and their regulatory proteins provides the framework for understanding the metabolic basis of disease. This advance has also laid the foundation for a broad range of genomic tools that have opened the way for targeted genetic testing in a number of medical disorders. This book is designed to be the first major text to discuss genomics-based advances in disease susceptibility, diagnosis, prognostication,and prediction of treatment outcomes in various areas of medicine. After building a strong underpinning in the basic concepts of genomics, the authors of this book, all leaders in the field, proceed to discuss a wide range of clinical areas and the applications now afforded by genomic analysis.

Genomics and Clinical Medicine (Oxford Monographs on Medical Genetics)

Science & Math

Kumar, Dhavendra

Evolution

Thalassaemia is the most common type of genetic disorder in the human population, and one of the first whose genetic basis was established. Written by Sir David Weatherall, an expert in molecular medicine and the founder of the Institute of Molecular Medicine in Oxford in 1989, this tells the story of early reports of the disease, possible historical accounts, the identification of the disease as having an inherited basis, early work on thalassaemia as a disorder of the synthesis of haemoglobin, and from the 1960s, with the rise of molecular biology, the study of the condition at the DNA level. The commonality of the disease raised an important evolutionary question: if thalassaemia is a genetic disorder then why hasn't it been selected out? Why does it persist, especially in Mediterranean populations? The great geneticist JBS Haldane suggested a reason - that carriers might be more resistant to malaria. Now that we have much more detailed understanding of the molecular basis of this set of diseases, has Haldane proved to be right? Weatherall shows that Haldane turns out to have been partially right. The book ends with recent improvements in treatment that have transformed patients' lives and a general assessment of how molecular approaches are impacting on medicine. Thalassaemia: the biography is part of the Oxford series, Biographies of Disease, edited by William and Helen Bynum. In each individual volume an expert historian of medicine tells the story of a particular disease or condition throughout history - not only in terms of growing medical understanding of its nature and cure, but also shifting social and cultural attitudes, and changes in the meaning of the name of the disease itself.

Thalassaemia: The Biography (Biographies of Disease)

History & Philosophy

Hemoglobin is an iron-containing protein in red blood cells that transports oxygen to tissues throughout the body. The abundance, stability, and oxygen-carrying properties of hemoglobin can be altered by genetic mutations. More than one thousand hemoglobin disorders are known; hemoglobinopathies (e.g., sickle cell disease) and thalassemias are some of the most common human genetic diseases worldwide. Written and edited by experts in the field, this collection from Cold Spring Harbor Perspectives in Medicine covers all aspects of hemoglobin and its diseases. Contributors examine the structure, expression, and evolution of the globin genes, the assembly of globin subunits into functional forms of hemoglobin, and the numerous variants that result from genetic alterations. The pathophysiological consequences of hemoglobin disorders (e.g., ineffective erythropoiesis and aberrant iron homeostasis), their clinical manifestations, and epidemiological trends are also described. This volume includes discussions of management and treatment strategies for hemoglobin disorders, such as transfusions, iron-chelating agents, gene therapy, and stem cell transplantation. It is an indispensable reference for biochemists, geneticists, cell and developmental biologists, physiologists, and all who are interested in reducing the medical burden of these common genetic diseases.

Hemoglobin and Its Diseases (Cold Spring Harbor Perspectives in Medicine)

Nathan, David G.

Schechter, Alan N.

Biological Sciences

Cold Spring Harbor Laboratory Press

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Books by Weatherall, David