Etiology of Human Disease at the DNA Level

In this collection of review articles based on papers presented at a Nobel Symposium, biomedical researchers highlight advances in mapping of human disease traits, molecular characterization of genetic defects, investigation of multigenic disorders, gene replacement in humans and animals models, and diagnosis and therapy of genetic disease. Experts examine the genetics of colorectal cancer, the role of homeotic and other development-regulating genes in human malformations, the proteins of blood coagulation and their genes, DNA markers in neurogentic disorders, genetic predisposition to diabetes mellitus, and genetic control of plasma fibrinogen levels. Coverage of diagnosis and therapy includes discussions of high-resolution gene mapping by fluorescent in situ hybridization, diagnosis of genetic disease in preimplantation embryos, and marrow transplantation as a model system for corrections of genetic disease.