Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Musings on genome medicine: enzyme-replacement therapy of the lysosomal storage diseases | Genome Medicine Musings Musings on genome medicine enzyme-replacement therapy of the lysosomal storage diseases David G Nathan and Stuart H Orkin Address Dana-Farber Cancer Institute 44 Binney Street Boston MA 02115 USA. Correspondence David G Nathan. Email david_nathan@ Abstract The lysosomal storage diseases such as Gaucher s disease mucopolysaccharidosis I II and IV Fabry s disease and Pompe s disease are rare inherited disorders whose symptoms result from enzyme deficiency causing lysosomal accumulation. Until effective gene-replacement therapy is developed expensive and at best incomplete enzyme-replacement therapy is the only hope for sufferers of rare lysosomal storage diseases. Preventive strategies involving carrier detection should be a priority toward the successful management of these conditions. The onset of the molecular biology revolution in the 1970s created a tsunami of optimism in biological and clinical circles. Sydney Brenner has described the excitement of basic biologists for whom the new technology offered the opportunity to gather important genetic data in days instead of the weeks or years that were required by the old mating and phenotype technologies 1 . Clinical investigators were equally thrilled with the promise that the new biology might lead to complete correction of genetic diseases for which only partial replacement therapies such as insulin and blood transfusion were then available. We outlined the advent and progress of gene therapy in a previous column 2 in which we emphasized the very slow progress of that field one that has only recently begun to bear fruit. Dissatisfied with the frustrations surrounding the medical application of gene-replacement therapies clinical investigators traveled alternative routes. The first intact cell therapy utilizing hematopoietic stem cell transplant HST was at the start slow to be accepted but has become standard treatment. The field was made possible by the pioneering work of E