Creating Conditions: The making and remaking of a genetic syndrome

How do the genes for a disease get discovered? How have new genetic technologies changed how diseases are described, diagnosed and classified? How do scientists, clinicians and family members interpret the results of new genetics? Does the rise of genetic testing and diagnosis mean that more traditional clinical expertise is now redundant? These are among the issues addressed in this book, which describes the fashioning of a disease - the making and re-making of the landscape of a syndrome - and its implications for our understanding of the impact of new genetics.